{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,19]],"date-time":"2023-10-19T08:10:18Z","timestamp":1697703018398},"reference-count":13,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2009,2,12]],"date-time":"2009-02-12T00:00:00Z","timestamp":1234396800000},"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":[[2009,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Unbalanced chromosomal abnormalities are frequent and account for about 10% of all chromosomal abnormalities identified in live births. Diagnosis of a coinherited neuromuscular genetic disorder in these individuals is often challenging based on the severity and variability of the phenotype resulting from the genomic imbalance. Herein, we report on a 4\u2010month\u2010old male with multiple congenital anomalies, craniosynostosis, dysmorphic features, and hypotonia. Karyotype analysis revealed an abnormal male karyotype: 46,XY,der(3)(3;7)(p25;q36), with partial monosomy of 3pter and partial trisomy of 7qter. The targeted array\u2010based comparative genomic hybridization (array\u2010CGH) validated the cytogenetic abnormality, with further elucidation of trisomy of the Sonic Hedgehog (<jats:italic>SHH<\/jats:italic>) locus on chromosome 7. Based on the severity of hypotonia in this infant, molecular analysis for spinal muscular atrophy (SMA) was performed and the common homozygous deletion of exon 7 in the survival of motor neuron 1 gene (<jats:italic>SMN1<\/jats:italic>) was identified. This case demonstrates the challenges in diagnoses of coexisting genetic disorders in infants with neuromuscular disease. A high index of suspicion in such cases is essential for appropriate case management and family risk assessment. \u00a9 2009 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32667","type":"journal-article","created":{"date-parts":[[2009,2,12]],"date-time":"2009-02-12T23:57:41Z","timestamp":1234483061000},"page":"515-518","source":"Crossref","is-referenced-by-count":1,"title":["Coexistence of an unbalanced chromosomal rearrangement and spinal muscular atrophy in an infant with multiple congenital anomalies"],"prefix":"10.1002","volume":"149A","author":[{"given":"Shay","family":"Ben\u2010Shachar","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bhattacharjee M.","family":"Bidwa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lorraine","family":"Potocki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Seema R.","family":"Lalani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2009,2,12]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1195-335"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/nbt0402-393"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10323"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.1983.03330390038028"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(95)90460-3"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200304000-00010"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00304563"},{"key":"e_1_2_5_9_1","first-page":"401","article-title":"Follow\u2010up of an intelligent odd\u2010mannered teenager with del(3)(p26). Remarks on authorship and ethical commitment","volume":"17","author":"Rivera H","year":"2006","journal-title":"Genet Couns"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1196-357"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970331)69:3<325::AID-AJMG20>3.0.CO;2-S"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31325"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00218278"},{"key":"e_1_2_5_14_1","first-page":"29","article-title":"Boy with seizures (West syndrome) and distal 7q duplication syndrome due to an unbalanced 7q;9p translocation","volume":"19","author":"T\u00fcys\u00fcz B","year":"2008","journal-title":"Genet Couns"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.32667","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.32667","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T04:01:21Z","timestamp":1697601681000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.32667"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,2,12]]},"references-count":13,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2009,3]]}},"alternative-id":["10.1002\/ajmg.a.32667"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.32667","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,2,12]]}}}