Insertional translocation of 15q25-q26 into 11p13 and duplication at 8p23.1 characterized by high resolution arrays in a boy with congenital malformations and aniridia
| Contribuinte(s) |
UNIVERSIDADE DE SÃO PAULO |
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| Data(s) |
19/09/2013
19/09/2013
2012
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| Resumo |
We report on a boy presenting submucous cleft palate, hydronephrosis, ventriculoseptal defect, aniridia, and developmental delay. Additional material on 11p13 was cytogenetically visible and array analyses identified a duplicated segment on 15q25-26 chromosome region; further, array analyses revealed a small deletion (49?kb) at 11p13 region involving the ELP4 gene and a duplication at 8p23.1. Results were confirmed with both molecular and molecular cytogenetics techniques. Possibilities for etiological basis of clinical phenotype are discussed. (c) 2012 Wiley Periodicals, Inc. Fundacao de Amparo a Pesquisa (FAPESP) [2008/10596-0, 2009/00898-1] Fundacao de Amparo a Pesquisa (FAPESP) |
| Identificador |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, HOBOKEN, v. 158A, n. 11, pp. 2905-2910, NOV, 2012 1552-4825 http://www.producao.usp.br/handle/BDPI/33505 10.1002/ajmg.a.35603 |
| Idioma(s) |
eng |
| Publicador |
WILEY-BLACKWELL HOBOKEN |
| Relação |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A |
| Direitos |
closedAccess Copyright WILEY-BLACKWELL |
| Palavras-Chave | #TRANSLOCATION #ARRAY COMPARATIVE GENOMIC HYBRIDIZATION #COPY NUMBER VARIATION #ANIRIDIA #SUBMUCOUS CLEFT PALATE #CARDIAC DEFECTS #PAX6 GENE #FAMILIAL ANIRIDIA #EYE ANOMALIES #RECEPTOR GENE #HUMAN GENOME #COPY NUMBER #EXPRESSION #OVERGROWTH #DELETION #GROWTH #GENETICS & HEREDITY |
| Tipo |
article original article publishedVersion |
