Frontonasal dysplasia, callosal agenesis, basal encephalocele, and eye anomalies syndrome with a partial 21q22.3 deletion
Contribuinte(s) |
UNIVERSIDADE DE SÃO PAULO |
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Data(s) |
04/11/2013
04/11/2013
2012
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Resumo |
We describe a girl with a phenotype characterized by frontonasal dysplasia, callosal agenesis, basal encephalocele, and eye anomalies who presents a 46,XX,r(21) karyotype. Array-comparative genomic hybridization using the Afflymetrix 100K DNA oligoarray set showed an interstitial deletion 21q22.3 of approximately 219?kb. Conventional karyotype of both parents was normal, and it was not possible to perform the molecular studies. In this report we raise the hypothesis that the deleted genes located at 21q22.3 could account to the phenotype. (C) 2012 Wiley Periodicals, Inc. CNPq CNPq [301789/2009-6, 302712/2010-0] |
Identificador |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, HOBOKEN, v. 158A, n. 7, supl. 1, Part 3, pp. 1676-1679, JUL, 2012 1552-4825 http://www.producao.usp.br/handle/BDPI/37785 10.1002/ajmg.a.35351 |
Idioma(s) |
eng |
Publicador |
WILEY-BLACKWELL HOBOKEN |
Relação |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A |
Direitos |
closedAccess Copyright WILEY-BLACKWELL |
Palavras-Chave | #FRONTONASAL DYSPLASIA #CNS MIDLINE ANOMALIES #BASAL ENCEPHALOCELE #21Q22 #3 DELETION #OPTIC DISC ANOMALIES #KNOBLOCH-SYNDROME #COLLAGEN-XVIII #GENETICS & HEREDITY |
Tipo |
article original article publishedVersion |