{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:10:08Z","timestamp":1761718208427},"reference-count":40,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2012,2,2]],"date-time":"2012-02-02T00:00:00Z","timestamp":1328140800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2012,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on a child with dextrocardia, atrial septal defect (ASD), severe developmental delay, hypotonia, 13 pairs of ribs, left preauricular choristoma, hirsutism, and craniofacial abnormalities. Prenatal cytogenetic evaluation showed karyotype 46,XY,?dup(8p)ish del(8)pter. Postnatal array CGH demonstrated a 6.8\u2009Mb terminal deletion at 8p23.3\u2013p23, an interstitial 31.1\u2009Mb duplication within 8p23.1\u2013p11, and a terminal duplication of 0.24\u2009Mb at 22q13.33, refining the karyotype to 46,XY,der(8)dup(8)(p23.1p11.1)t(8;22)(p23.1;q13.1).ish der(8)dup(8)(p23.1p11.1)t(8;22)(p23.1;q13.1) (D8S504\u2010,MS607\u2009+\u2009,ARSA\u2009+\u2009,D8Z1\u2009+\u2009, RP115713\u2009+\u2009+). Previous reports of distal 8p deletion, 8p duplication, and distal 22q duplication have shown similar manifestations, including congenital heart disease, intellectual impairment, and multiple minor anomalies. We correlate the patient's clinical findings with these particular areas of copy number. This case study supports the use of aCGH to identify subtle chromosomal rearrangement in infants with cardiac malformation as their most significant or only apparent birth defect. Additionally, it illustrates why aCGH is essential in the description of chromosome rearrangements, even those seemingly visible via routine karyotype. This method shows that there is often greater complexity submicroscopically, essential to an adequate understanding of a patient's genotype and phenotype. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.34431","type":"journal-article","created":{"date-parts":[[2012,2,2]],"date-time":"2012-02-02T19:38:25Z","timestamp":1328211505000},"page":"641-647","source":"Crossref","is-referenced-by-count":7,"title":["Dextrocardia, atrial septal defect, severe developmental delay, facial anomalies, and supernumerary ribs in a child with a complex unbalanced 8;22 translocation including partial 8p duplication"],"prefix":"10.1002","volume":"158A","author":[{"given":"Kathleen","family":"Pope","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joy","family":"Samanich","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K.H.","family":"Ramesh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Linda","family":"Cannizzaro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qiulu","family":"Pan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Melanie","family":"Babcock","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2012,2,2]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/hrt.2004.048330"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.27.5.327"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.amjcard.2007.02.095"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.anngen.2004.02.004"},{"key":"e_1_2_6_6_1","first-page":"313","article-title":"Fluorescent in situ hybridization (FISH) for DNA probes in the interphase and metaphase stages of the cell cycle","volume":"75","author":"Cannizzaro LA","year":"1997","journal-title":"Methods Mol Biol"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32248"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320590318"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1086\/302330"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980217)75:5<534::AID-AJMG15>3.0.CO;2-L"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1749-6632.2008.03610.x"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.32.10.792"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2008.058776"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1442-200X.2010.03181.x"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1460"},{"key":"e_1_2_6_16_1","first-page":"171","article-title":"Normal phenotype and slight mental retardation in de novo distal 8p deletion (8pter\u2013\u20138p23.1:)","volume":"32","author":"Fryns JP","year":"1989","journal-title":"Ann Genet"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature01827"},{"key":"e_1_2_6_18_1","first-page":"419","article-title":"Duplication of 8p with minimal phenotypic effect transmitted from a mother to her two daughters","volume":"36","author":"Gibbons B","year":"1999","journal-title":"J Med Genet"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.102.4.432"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.2001.tb00174.x"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320580307"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30684"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1978.tb04256.x"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.29.6.407"},{"key":"e_1_2_6_25_1","first-page":"62","volume-title":"An International System for Human Cytogenetic Nomenclature","author":"ISCHCN","year":"2009"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20001002)94:4<306::AID-AJMG8>3.0.CO;2-V"},{"key":"e_1_2_6_27_1","unstructured":"Online Mendelian Inheritance in Man OMIM\u00ae. 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