Artículos de revistas
Saethre-Chotzen phenotype with learning disability and hyper IgE phenotype in a patient due to complex chromosomal rearrangement involving chromosomes 3 and 7
Fecha
2012Registro en:
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, HOBOKEN, v. 158A, n. 7, supl. 1, Part 3, pp. 1680-1685, JUL, 2012
1552-4825
10.1002/ajmg.a.35367
Autor
Zechi-Ceide, Roseli Maria
Rodrigues, Melina Guerreiro
Jehee, Fernanda Sarquis
Kokitsu-Nakata, Nancy Mizue
Bueno, Maria Rita dos Santos e Passos
Guion-Almeida, Maria Leine
Institución
Resumen
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.