Saethre-Chotzen phenotype with learning disability and hyper IgE phenotype in a patient due to complex chromosomal rearrangement involving chromosomes 3 and 7
| Contribuinte(s) |
UNIVERSIDADE DE SÃO PAULO |
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| Data(s) |
05/11/2013
05/11/2013
2012
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| Resumo |
The authors describe on a Brazilian girl with coronal synostosis, facial asymmetry, ptosis, brachydactyly, significant learning difficulties, recurrent scalp infections with marked hair loss, and elevated serum immunoglobulin E. Standard lymphocyte karyotype showed a small additional segment in 7p21[46,XX,add(7)(p21)]. Deletion of the TWIST1 gene, detected by Multiplex Ligation Probe-dependent Amplification (MPLA) and array-CGH, was consistent with phenotype of SaethreChotzen syndrome. Array CGH also showed deletion of four other genes at 7p21.1 (SNX13, PRPS1L1, HD9C9, and FERD3L) and the deletion of six genes (CACNA2D2, C3orf18, HEMK1, CISH, MAPKAPK3, and DOCK3) at 3p21.31. Our case reinforces FERD3L as candidate gene for intellectual disability and suggested that genes located in 3p21.3 can be related to hyper IgE phenotype. (C) 2012 Wiley Periodicals, Inc. CNPq CNPq [301789/2009-6] FAPESP FAPESP |
| Identificador |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, HOBOKEN, v. 158A, n. 7, supl. 1, Part 3, pp. 1680-1685, JUL, 2012 1552-4825 http://www.producao.usp.br/handle/BDPI/40977 10.1002/ajmg.a.35367 |
| Idioma(s) |
eng |
| Publicador |
WILEY-BLACKWELL HOBOKEN |
| Relação |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A |
| Direitos |
closedAccess Copyright WILEY-BLACKWELL |
| Palavras-Chave | #TWIST1 GENE MICRODELETION #SAETHRE-CHOTZEN SYNDROME #HYPER-IGE SYNDROME #ARRAY-CGH #CISH GENE #FERD3L GENE #DOCK3 GENE #MICRODELETION SYNDROME #GENETIC-ANALYSIS #TWIST MUTATION #PROTEIN #DEFICIENCY #FAMILY #CNS #GENETICS & HEREDITY |
| Tipo |
article original article publishedVersion |
