{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,30]],"date-time":"2026-03-30T10:04:43Z","timestamp":1774865083008,"version":"3.50.1"},"reference-count":86,"publisher":"MDPI AG","issue":"13","license":[{"start":{"date-parts":[[2023,6,30]],"date-time":"2023-06-30T00:00:00Z","timestamp":1688083200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Funda\u00e7\u00e3o de Amparo \u00e0 Pesquisa do Estado de S\u00e3o Paulo (FAPESP)","award":["2019\/26780-9"],"award-info":[{"award-number":["2019\/26780-9"]}]},{"name":"Funda\u00e7\u00e3o de Amparo \u00e0 Pesquisa do Estado de S\u00e3o Paulo (FAPESP)","award":["307571\/2021-1"],"award-info":[{"award-number":["307571\/2021-1"]}]},{"name":"Funda\u00e7\u00e3o de Amparo \u00e0 Pesquisa do Estado de S\u00e3o Paulo (FAPESP)","award":["312543\/2021-2"],"award-info":[{"award-number":["312543\/2021-2"]}]},{"name":"Conselho Nacional de Desenvolvimento Cient\u00edfico e Tecnol\u00f3gico (CNPq)","award":["2019\/26780-9"],"award-info":[{"award-number":["2019\/26780-9"]}]},{"name":"Conselho Nacional de Desenvolvimento Cient\u00edfico e Tecnol\u00f3gico (CNPq)","award":["307571\/2021-1"],"award-info":[{"award-number":["307571\/2021-1"]}]},{"name":"Conselho Nacional de Desenvolvimento Cient\u00edfico e Tecnol\u00f3gico (CNPq)","award":["312543\/2021-2"],"award-info":[{"award-number":["312543\/2021-2"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>Background: Cytogenomic methods have gained space in the clinical investigation of patients with disorders\/differences in sexual development (DSD). Here we evaluated the role of the SNP array in achieving a molecular diagnosis in Brazilian patients with syndromic DSD of unknown etiology. Methods: Twenty-two patients with DSD and syndromic features were included in the study and underwent SNP-array analysis. Results: In two patients, the diagnosis of 46,XX SRY + DSD was established. Additionally, two deletions were revealed (3q29 and Xp22.33), justifying the syndromic phenotype in these patients. Two pathogenic CNVs, a 10q25.3-q26.2 and a 13q33.1 deletion encompassing the FGFR2 and the EFNB2 gene, were associated with genital atypia and syndromic characteristics in two patients with 46,XY DSD. In a third 46,XY DSD patient, we identified a duplication in the 14q11.2-q12 region of 6.5 Mb associated with a deletion in the 21p11.2-q21.3 region of 12.7 Mb. In a 46,XY DSD patient with delayed neuropsychomotor development and congenital cataracts, a 12 Kb deletion on chromosome 10 was found, partially clarifying the syndromic phenotype, but not the genital atypia. Conclusions: The SNP array is a useful tool for DSD patients, identifying the molecular etiology in 40% (2\/5) of patients with 46,XX DSD and 17.6% (3\/17) of patients with 46,XY DSD.<\/jats:p>","DOI":"10.3390\/diagnostics13132235","type":"journal-article","created":{"date-parts":[[2023,6,30]],"date-time":"2023-06-30T16:08:32Z","timestamp":1688141312000},"page":"2235","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Cytogenomic Investigation of Syndromic Brazilian Patients with Differences of Sexual Development"],"prefix":"10.3390","volume":"13","author":[{"suffix":"Jr.","given":"Jos\u00e9 Antonio Diniz","family":"Faria","sequence":"first","affiliation":[{"name":"Faculdade de Medicina, Universidade Federal da Bahia, Salvador 40110-909, Brazil"},{"name":"Unidade de Endocrinologia do Desenvolvimento, Laborat\u00f3rio de Horm\u00f4nios e Gen\u00e9tica Molecular LIM\/42, Hospital das Cl\u00ednicas da Faculdade de Medicina da Universidade de S\u00e3o Paulo, S\u00e3o Paulo 05403-010, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniela R.","family":"Moraes","sequence":"additional","affiliation":[{"name":"Unidade de Endocrinologia do Desenvolvimento, Laborat\u00f3rio de Horm\u00f4nios e Gen\u00e9tica Molecular LIM\/42, Hospital das Cl\u00ednicas da Faculdade de Medicina da Universidade de S\u00e3o Paulo, S\u00e3o Paulo 05403-010, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2236-3956","authenticated-orcid":false,"given":"Leslie Domenici","family":"Kulikowski","sequence":"additional","affiliation":[{"name":"Laborat\u00f3rio de Citogen\u00f4mica e Patologia Molecular LIM\/03, Hospital das Cl\u00ednicas da Faculdade de Medicina da Universidade de S\u00e3o Paulo, S\u00e3o Paulo 05403-010, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5461-0301","authenticated-orcid":false,"given":"Rafael Loch","family":"Batista","sequence":"additional","affiliation":[{"name":"Unidade de Endocrinologia do Desenvolvimento, Laborat\u00f3rio de Horm\u00f4nios e Gen\u00e9tica Molecular LIM\/42, Hospital das Cl\u00ednicas da Faculdade de Medicina da Universidade de S\u00e3o Paulo, S\u00e3o Paulo 05403-010, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1072-7903","authenticated-orcid":false,"given":"Nathalia Lisboa","family":"Gomes","sequence":"additional","affiliation":[{"name":"Unidade de Endocrinologia do Desenvolvimento, Laborat\u00f3rio de Horm\u00f4nios e Gen\u00e9tica Molecular LIM\/42, Hospital das Cl\u00ednicas da Faculdade de Medicina da Universidade de S\u00e3o Paulo, S\u00e3o Paulo 05403-010, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6603-3188","authenticated-orcid":false,"given":"Mirian Yumie","family":"Nishi","sequence":"additional","affiliation":[{"name":"Unidade de Endocrinologia do Desenvolvimento, Laborat\u00f3rio de Horm\u00f4nios e Gen\u00e9tica Molecular LIM\/42, Hospital das Cl\u00ednicas da Faculdade de Medicina da Universidade de S\u00e3o Paulo, S\u00e3o Paulo 05403-010, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Evelin","family":"Zanardo","sequence":"additional","affiliation":[{"name":"Laborat\u00f3rio de Citogen\u00f4mica e Patologia Molecular LIM\/03, Hospital das Cl\u00ednicas da Faculdade de Medicina da Universidade de S\u00e3o Paulo, S\u00e3o Paulo 05403-010, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carolina Kymie Vasques","family":"Nonaka","sequence":"additional","affiliation":[{"name":"Centro de Biotecnologia e Terapia Celular, Hospital S\u00e3o Rafael, Salvador 41253-190, Brazil"},{"name":"Instituto D\u2019Or de Pesquisa e Ensino (IDOR), Salvador 41253-190, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bruno Solano","family":"de Freitas Souza","sequence":"additional","affiliation":[{"name":"Centro de Biotecnologia e Terapia Celular, Hospital S\u00e3o Rafael, Salvador 41253-190, Brazil"},{"name":"Instituto D\u2019Or de Pesquisa e Ensino (IDOR), Salvador 41253-190, Brazil"},{"name":"Instituto Gon\u00e7alo Moniz, Funda\u00e7\u00e3o Oswaldo Cruz (FIOCRUZ), Salvador 40296-710, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Berenice Bilharinho","family":"Mendonca","sequence":"additional","affiliation":[{"name":"Unidade de Endocrinologia do Desenvolvimento, Laborat\u00f3rio de Horm\u00f4nios e Gen\u00e9tica Molecular LIM\/42, Hospital das Cl\u00ednicas da Faculdade de Medicina da Universidade de S\u00e3o Paulo, S\u00e3o Paulo 05403-010, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sorahia","family":"Domenice","sequence":"additional","affiliation":[{"name":"Unidade de Endocrinologia do Desenvolvimento, Laborat\u00f3rio de Horm\u00f4nios e Gen\u00e9tica Molecular LIM\/42, Hospital das Cl\u00ednicas da Faculdade de Medicina da Universidade de S\u00e3o Paulo, S\u00e3o Paulo 05403-010, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,6,30]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"554","DOI":"10.1136\/adc.2006.098319","article-title":"Consensus statement on management of intersex disorders","volume":"91","author":"Hughes","year":"2006","journal-title":"Arch. Dis. Child."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1016\/j.beem.2007.11.001","article-title":"Disorders of sex development: A new definition and classification","volume":"22","author":"Hughes","year":"2008","journal-title":"Best Pract. Res. Clin. Endocrinol. Metab."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1093\/bmb\/ldt008","article-title":"Understanding the genetic aetiology in patients with XY DSD","volume":"106","author":"Ahmed","year":"2013","journal-title":"Br. Med. Bull."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"1503","DOI":"10.1210\/jc.2013-3690","article-title":"Disorders of sex development (DSDs): An update","volume":"99","author":"Ostrer","year":"2014","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1111\/j.1365-2265.2008.03392.x","article-title":"46,XY disorders of sex development (DSD)","volume":"70","author":"Mendonca","year":"2009","journal-title":"Clin. Endocrinol."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"478","DOI":"10.1038\/nrendo.2015.69","article-title":"Disorders of sex development: Effect of molecular diagnostics","volume":"11","author":"Achermann","year":"2015","journal-title":"Nat. Rev. Endocrinol."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1111\/j.1399-0004.2012.01879.x","article-title":"Targeted massively parallel sequencing provides comprehensive genetic diagnosis for patients with disorders of sex development","volume":"83","author":"Arboleda","year":"2013","journal-title":"Clin. Genet."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"E333","DOI":"10.1210\/jc.2014-2605","article-title":"Exome sequencing for the diagnosis of 46,XY disorders of sex development","volume":"100","author":"Baxter","year":"2015","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1111\/cen.13717","article-title":"Long-term outcomes and molecular analysis of a large cohort of patients with 46,XY disorder of sex development due to partial gonadal dysgenesis","volume":"89","author":"Gomes","year":"2018","journal-title":"Clin. Endocrinol."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"1215","DOI":"10.1093\/nar\/16.3.1215","article-title":"A simple salting out procedure for extracting DNA from human nucleated cells","volume":"16","author":"Miller","year":"1988","journal-title":"Nucleic Acids Res."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1002\/ajmg.10168","article-title":"Detection of Y-specific sequences in 122 patients with Turner syndrome: Nested PCR is not a reliable method","volume":"107","author":"Nishi","year":"2002","journal-title":"Am. J. Med. Genet."},{"key":"ref_12","first-page":"680","article-title":"American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants","volume":"13","author":"Kearney","year":"2011","journal-title":"Genet. Med. Off. J. Am. Coll. Med. Genet."},{"key":"ref_13","first-page":"1","article-title":"Physical growth of Swiss children from birth to 20 years of age. First Zurich longitudinal study of growth and development","volume":"52","author":"Prader","year":"1989","journal-title":"Helv. Paediatr. Acta Suppl."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"1274","DOI":"10.1167\/iovs.05-1095","article-title":"Heterozygous and homozygous mutations in PITX3 in a large Lebanese family with posterior polar cataracts and neurodevelopmental abnormalities","volume":"47","author":"Bidinost","year":"2006","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_15","first-page":"367","article-title":"The PITX3 gene in posterior polar congenital cataract in Australia","volume":"12","author":"Burdon","year":"2006","journal-title":"Mol. Vis."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"1031","DOI":"10.1387\/ijdb.041854jg","article-title":"Congenital hereditary cataracts","volume":"48","author":"Graw","year":"2004","journal-title":"Int. J. Dev. Biol."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"401","DOI":"10.1002\/wsbm.1172","article-title":"Sex and the circuitry: Progress toward a systems-level understanding of vertebrate sex determination","volume":"4","author":"Munger","year":"2012","journal-title":"Wiley Interdiscip. Rev. Syst. Biol. Med."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"16012","DOI":"10.1038\/hgv.2016.12","article-title":"Integrated small copy number variations and epigenome maps of disorders of sex development","volume":"3","author":"Amarillo","year":"2016","journal-title":"Hum. Genome Var."},{"key":"ref_19","doi-asserted-by":"crossref","unstructured":"White, S., Ohnesorg, T., Notini, A., Roeszler, K., Hewitt, J., Daggag, H., Smith, C., Turbitt, E., Gustin, S., and van den Bergen, J. (2011). Copy number variation in patients with disorders of sex development due to 46,XY gonadal dysgenesis. PLoS ONE, 6.","DOI":"10.1371\/journal.pone.0017793"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"1801","DOI":"10.1016\/j.juro.2014.06.040","article-title":"DNA copy number variations in patients with 46,XY disorders of sex development","volume":"192","author":"Harrison","year":"2014","journal-title":"J. Urol."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"2637","DOI":"10.1093\/humrep\/deq167","article-title":"Array-CGH analysis in patients with syndromic and non-syndromic XY gonadal dysgenesis: Evaluation of array CGH as diagnostic tool and search for new candidate loci","volume":"25","author":"Ledig","year":"2010","journal-title":"Hum. Reprod. Oxf. Engl."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"172","DOI":"10.1038\/307172a0","article-title":"Human XX males with Y single-copy DNA fragments","volume":"307","author":"Guellaen","year":"1984","journal-title":"Nature"},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"912","DOI":"10.1007\/PL00008369","article-title":"Familial disorder of sex determination in seven individuals from three related sibships","volume":"159","author":"Jarrah","year":"2000","journal-title":"Eur. J. Pediatr."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1016\/j.jfma.2012.02.009","article-title":"Cytogenic and molecular analyses of 46,XX male syndrome with clinical comparison to other groups with testicular azoospermia of genetic origin","volume":"112","author":"Chiang","year":"2013","journal-title":"J. Formos. Med. Assoc. Taiwan Yi Zhi"},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"1518","DOI":"10.4238\/2014.March.12.4","article-title":"Investigation of mutations in the SRY, SOX9, and DAX1 genes in sex reversal patients from the Sichuan region of China","volume":"13","author":"Chen","year":"2014","journal-title":"Genet. Mol. Res. GMR"},{"key":"ref_26","doi-asserted-by":"crossref","unstructured":"Grinspon, R.P., and Rey, R.A. (2019). Molecular Characterization of XX Maleness. Int. J. Mol. Sci., 20.","DOI":"10.3390\/ijms20236089"},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"3458","DOI":"10.1210\/jc.2007-0447","article-title":"Clinical, endocrinological, and epigenetic features of the 46,XX male syndrome, compared with 47,XXY Klinefelter patients","volume":"92","author":"Vorona","year":"2007","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1159\/000445088","article-title":"Disorders of Sex Development with Testicular Differentiation in SRY-Negative 46,XX Individuals: Clinical and Genetic Aspects","volume":"10","author":"Grinspon","year":"2016","journal-title":"Sex. Dev."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"308","DOI":"10.4274\/jcrpe.galenos.2019.2019.0101","article-title":"A Duplication Upstream of SOX9 Associated with SRY Negative 46,XX Ovotesticular Disorder of Sex Development: A Case Report","volume":"12","author":"Mengen","year":"2020","journal-title":"J. Clin. Res. Pediatr. Endocrinol."},{"key":"ref_30","doi-asserted-by":"crossref","unstructured":"Aci\u00e9n, P., and Aci\u00e9n, M. (2020). Disorders of Sex Development: Classification, Review, and Impact on Fertility. J. Clin. Med., 9.","DOI":"10.3390\/jcm9113555"},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"667","DOI":"10.1111\/cen.14389","article-title":"SRY-negative 46,XX testicular\/ovotesticular DSD: Long-term outcomes and early blockade of gonadotropic axis","volume":"94","author":"Lambert","year":"2021","journal-title":"Clin. Endocrinol."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"154","DOI":"10.1086\/431653","article-title":"3q29 microdeletion syndrome: Clinical and molecular characterization of a new syndrome","volume":"77","author":"Willatt","year":"2005","journal-title":"Am. J. Hum. Genet."},{"key":"ref_33","doi-asserted-by":"crossref","unstructured":"Murphy, M.M., Lindsey Burrell, T., Cubells, J.F., Espana, R.A., Gambello, M.J., Goines, K.C.B., Klaiman, C., Li, L., Novacek, D.M., and Papetti, A. (2018). Study protocol for The Emory 3q29 Project: Evaluation of neurodevelopmental, psychiatric, and medical symptoms in 3q29 deletion syndrome. BMC Psychiatry, 18.","DOI":"10.1186\/s12888-018-1760-5"},{"key":"ref_34","first-page":"1103","article-title":"Spasma-in-flexion syndrome, callosal agenesis, chorioretinal abnormalities","volume":"26","author":"Aicardi","year":"1969","journal-title":"Arch. Fr. Pediatr."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"364","DOI":"10.1007\/BF00276602","article-title":"Agenesis of corpus callosum, ocular, and skeletal anomalies (X-linked dominant Aicardi\u2019s syndrome) in a girl with balanced X\/3 translocation","volume":"61","author":"Ropers","year":"1982","journal-title":"Hum. Genet."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1002\/ajmg.1320320405","article-title":"Clinical, cytogenetic, and pedigree findings in 18 cases of Aicardi syndrome","volume":"32","author":"Donnenfeld","year":"1989","journal-title":"Am. J. Med. Genet."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"911","DOI":"10.1016\/S0022-3476(05)80649-3","article-title":"Heterogeneity of clinical severity and molecular lesions in Aicardi syndrome","volume":"116","author":"Neidich","year":"1990","journal-title":"J. Pediatr."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1002\/mrdd.10025","article-title":"Genetic basis of Rett syndrome","volume":"8","author":"Zoghbi","year":"2002","journal-title":"Ment. Retard. Dev. Disabil. Res. Rev."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"531","DOI":"10.1177\/0883073807309782","article-title":"New incidence, prevalence, and survival of Aicardi syndrome from 408 cases","volume":"23","author":"Kroner","year":"2008","journal-title":"J. Child. Neurol."},{"key":"ref_40","first-page":"423","article-title":"Aicardi syndrome, an unsolved mystery: Review of diagnostic features, previous attempts, and future opportunities for genetic examination","volume":"178","author":"Wong","year":"2018","journal-title":"Am. J. Med. Genet. C. Semin. Med. Genet."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1093\/hmg\/1.4.221","article-title":"Deletions and translocations involving the distal short arm of the human X chromosome: Review and hypotheses","volume":"1","author":"Ballabio","year":"1992","journal-title":"Hum. Mol. Genet."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"1347","DOI":"10.4103\/1673-5374.213557","article-title":"Impact of Pitx3 gene knockdown on glial cell line-derived neurotrophic factor transcriptional activity in dopaminergic neurons","volume":"12","author":"Chen","year":"2017","journal-title":"Neural. Regen. Res."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1002\/jnr.24245","article-title":"Relationship between neural crest cell specification and rare ocular diseases","volume":"97","author":"Akula","year":"2018","journal-title":"J. Neurosci. Res."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"314","DOI":"10.1080\/13816810.2018.1430243","article-title":"Identification of PITX3 mutations in individuals with various ocular developmental defects","volume":"39","author":"Plaisancie","year":"2018","journal-title":"Ophthalmic Genet."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1007\/BF00291317","article-title":"Partial deletion 10q","volume":"42","author":"Lewandowski","year":"1978","journal-title":"Hum. Genet."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1002\/ajmg.1320200122","article-title":"Deletions of the long arm of chromosome 10","volume":"20","author":"Shapiro","year":"1985","journal-title":"Am. J. Med. Genet."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1002\/ajmg.a.20220","article-title":"Deletion of the distal long arm of chromosome 10; is there a characteristic phenotype? A report of 15 de novo and familial cases","volume":"123A","author":"Irving","year":"2003","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"791","DOI":"10.1002\/ajmg.a.37014","article-title":"Persistence of m\u00fcllerian duct structures in a genetic male with distal monosomy 10q","volume":"167A","author":"Tosur","year":"2015","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"597","DOI":"10.1002\/ajmg.1320460527","article-title":"Complete and partial XY sex reversal associated with terminal deletion of 10q: Report of 2 cases and literature review","volume":"46","author":"Wilkie","year":"1993","journal-title":"Am. J. Med. Genet."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1046\/j.1442-200x.1999.01105.x","article-title":"Terminal deletion of chromosome 10q: Clinical features and literature review","volume":"41","author":"Tanabe","year":"1999","journal-title":"Pediatr. Int."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1111\/j.1399-0004.2008.01115.x","article-title":"Identification of critical regions for clinical features of distal 10q deletion syndrome","volume":"76","author":"Yatsenko","year":"2009","journal-title":"Clin. Genet."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"875","DOI":"10.1016\/S0092-8674(01)00284-7","article-title":"Male-to-female sex reversal in mice lacking fibroblast growth factor 9","volume":"104","author":"Colvin","year":"2001","journal-title":"Cell"},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"16558","DOI":"10.1073\/pnas.0702581104","article-title":"Fibroblast growth factor receptor 2 regulates proliferation and Sertoli differentiation during male sex determination","volume":"104","author":"Kim","year":"2007","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/sj.ejhg.5201777","article-title":"FGFR2, FGF8, FGF10 and BMP7 as candidate genes for hypospadias","volume":"15","author":"Lundberg","year":"2007","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_55","doi-asserted-by":"crossref","unstructured":"Tannour-Louet, M., Han, S., Corbett, S.T., Louet, J.F., Yatsenko, S., Meyers, L., Shaw, C.A., Kang, S.H., Cheung, S.W., and Lamb, D.J. (2010). Identification of de novo copy number variants associated with human disorders of sexual development. PLoS ONE, 5.","DOI":"10.1371\/journal.pone.0015392"},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"6699","DOI":"10.1093\/hmg\/ddv374","article-title":"FGFR2 mutation in 46,XY sex reversal with craniosynostosis","volume":"24","author":"Ono","year":"2015","journal-title":"Hum. Mol. Genet."},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"1653","DOI":"10.1242\/dev.124.9.1653","article-title":"Defects of urogenital development in mice lacking Emx2","volume":"124","author":"Miyamoto","year":"1997","journal-title":"Development"},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"5893","DOI":"10.1210\/en.2010-0915","article-title":"Abnormal epithelial cell polarity and ectopic epidermal growth factor receptor (EGFR) expression induced in Emx2 KO embryonic gonads","volume":"151","author":"Kusaka","year":"2010","journal-title":"Endocrinology"},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"669","DOI":"10.1002\/ajmg.a.32705","article-title":"Molecular (SNP) analyses of overlapping hemizygous deletions of 10q25.3 to 10qter in four patients: Evidence for HMX2 and HMX3 as candidate genes in hearing and vestibular function","volume":"149A","author":"Miller","year":"2009","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"2618","DOI":"10.1002\/ajmg.a.36662","article-title":"Severe sex differentiation disorder in a boy with a 3.8 Mb 10q25.3-q26.12 microdeletion encompassing EMX2","volume":"164A","author":"Piard","year":"2014","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"439","DOI":"10.1016\/j.devcel.2004.06.016","article-title":"Hmx2 and Hmx3 homeobox genes direct development of the murine inner ear and hypothalamus and can be functionally replaced by Drosophila Hmx","volume":"7","author":"Wang","year":"2004","journal-title":"Dev. Cell"},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"16008","DOI":"10.1038\/hgv.2016.8","article-title":"A de novo microdeletion in a patient with inner ear abnormalities suggests that the 10q26.13 region contains the responsible gene","volume":"3","author":"Sangu","year":"2016","journal-title":"Hum. Genome Var."},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"1325","DOI":"10.1002\/ajmg.a.37579","article-title":"Novel 14q11.2 microduplication including the CHD8 and SUPT16H genes associated with developmental delay","volume":"170A","author":"Smyk","year":"2016","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1034\/j.1600-0447.2002.01323.x","article-title":"An interstitial deletion of the long arm of chromosome 21 in a case of a first episode of psychosis","volume":"106","author":"Takhar","year":"2002","journal-title":"Acta Psychiatr. Scand."},{"key":"ref_65","first-page":"1","article-title":"Deletion of chromosome 21 disturbs human brain morphogenesis","volume":"8","author":"Yao","year":"2006","journal-title":"Genet. Med. Off. J. Am. Coll. Med. Genet."},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"454","DOI":"10.1038\/ejhg.2008.214","article-title":"Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21","volume":"17","author":"Lyle","year":"2009","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1111\/j.1399-0004.2009.01289.x","article-title":"Detailed molecular and clinical characterization of three patients with 21q deletions","volume":"77","author":"Lindstrand","year":"2010","journal-title":"Clin. Genet."},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1038\/ejhg.2010.150","article-title":"Genomic analysis of partial 21q monosomies with variable phenotypes","volume":"19","author":"Roberson","year":"2011","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_69","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1111\/j.1399-0004.1995.tb04074.x","article-title":"Monosomy 21q: Two cases of del(21q) and review of the literature","volume":"48","author":"Huret","year":"1995","journal-title":"Clin. Genet."},{"key":"ref_70","first-page":"499","article-title":"The 13q-deletion syndrome","volume":"21","author":"Allderdice","year":"1969","journal-title":"Am. J. Hum. Genet."},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"739","DOI":"10.1002\/ajmg.1320290403","article-title":"Interstitial deletion 13q: Further delineation of the syndrome by clinical and high-resolution chromosome analysis of five patients","volume":"29","author":"Tranebjaerg","year":"1988","journal-title":"Am. J. Med. Genet."},{"key":"ref_72","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1016\/j.ejmg.2008.10.002","article-title":"Twelve new patients with 13q deletion syndrome: Genotype-phenotype analyses in progress","volume":"52","author":"Bendavid","year":"2009","journal-title":"Eur. J. Med. Genet."},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1016\/j.ymgme.2016.03.007","article-title":"Terminal microdeletions of 13q34 chromosome region in patients with intellectual disability: Delineation of an emerging new microdeletion syndrome","volume":"118","author":"Reinstein","year":"2016","journal-title":"Mol. Genet. Metab."},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"1145","DOI":"10.1007\/s00439-019-02048-y","article-title":"The rare 13q33-q34 microdeletions: Eight new patients and review of the literature","volume":"138","author":"Goldberg","year":"2019","journal-title":"Hum. Genet."},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1002\/ajmg.1320450115","article-title":"Preliminary definition of a \u201ccritical region\u201d of chromosome 13 in q32: Report of 14 cases with 13q deletions and review of the literature","volume":"45","author":"Brown","year":"1993","journal-title":"Am. J. Med. Genet."},{"key":"ref_76","first-page":"859","article-title":"The 13q- syndrome: The molecular definition of a critical deletion region in band 13q32","volume":"57","author":"Brown","year":"1995","journal-title":"Am. J. Hum. Genet."},{"key":"ref_77","doi-asserted-by":"crossref","first-page":"396","DOI":"10.1007\/s003830000379","article-title":"Penoscrotal inversion, hypospadias, imperforate anus, facial anomalies, and developmental delay: Definition of a new clinical syndrome","volume":"16","author":"Kuhnle","year":"2000","journal-title":"Pediatr. Surg. Int."},{"key":"ref_78","doi-asserted-by":"crossref","first-page":"166","DOI":"10.1046\/j.1469-0705.2001.00335.x","article-title":"Prenatal diagnosis of 13q- syndrome in a fetus with holoprosencephaly and thumb agenesis","volume":"17","author":"Gutierrez","year":"2001","journal-title":"Ultrasound Obs. Gynecol"},{"key":"ref_79","doi-asserted-by":"crossref","first-page":"272","DOI":"10.1016\/j.ydbio.2004.03.027","article-title":"Bidirectional signaling mediated by ephrin-B2 and EphB2 controls urorectal development","volume":"271","author":"Dravis","year":"2004","journal-title":"Dev. Biol."},{"key":"ref_80","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1016\/S0959-437X(02)00316-7","article-title":"Eph family functions from an evolutionary perspective","volume":"12","author":"Drescher","year":"2002","journal-title":"Curr Opin Genet Dev"},{"key":"ref_81","doi-asserted-by":"crossref","first-page":"4105","DOI":"10.1242\/dev.074997","article-title":"Eph\/ephrin signalling during development","volume":"139","author":"Klein","year":"2012","journal-title":"Development"},{"key":"ref_82","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1016\/B978-0-12-386503-8.00002-8","article-title":"Essential roles of EphB receptors and EphrinB ligands in endothelial cell function and angiogenesis","volume":"114","author":"Salvucci","year":"2012","journal-title":"Adv. Cancer Res."},{"key":"ref_83","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1016\/j.kint.2016.04.021","article-title":"Multimodal Eph\/Ephrin signaling controls several phases of urogenital development","volume":"90","author":"Peuckert","year":"2016","journal-title":"Kidney Int."},{"key":"ref_84","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1007\/s00467-015-3112-8","article-title":"Eph\/ephrin signaling in the kidney and lower urinary tract","volume":"31","author":"Weiss","year":"2016","journal-title":"Pediatr. Nephrol."},{"key":"ref_85","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1007\/BF00304557","article-title":"Deficiency of coagulation factors VII and X associated with deletion of a chromosome 13 (q34). Evidence from two cases with 46,XY,t(13;Y)(q11;q34)","volume":"62","author":"Pfeiffer","year":"1982","journal-title":"Hum. Genet."},{"key":"ref_86","first-page":"32","article-title":"Structural genes of coagulation factors VII and X located on 13q34","volume":"29","author":"Gilgenkrantz","year":"1986","journal-title":"Ann. Genet."}],"container-title":["Diagnostics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2075-4418\/13\/13\/2235\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T20:04:11Z","timestamp":1760126651000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2075-4418\/13\/13\/2235"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,6,30]]},"references-count":86,"journal-issue":{"issue":"13","published-online":{"date-parts":[[2023,7]]}},"alternative-id":["diagnostics13132235"],"URL":"https:\/\/doi.org\/10.3390\/diagnostics13132235","relation":{},"ISSN":["2075-4418"],"issn-type":[{"value":"2075-4418","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,6,30]]}}}