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A cryptic microdeletion including MBD5 occurring within the breakpoint of a reciprocal translocation between chromosomes 2 and 5 in a patient with developmental delay and obesity
Author(s) -
Shichiji Minobu,
Ito Yasushi,
Shimojima Keiko,
Nakamu Hidetsugu,
Oguni Hirokazu,
Osawa Makiko,
Yamamoto Toshiyuki
Publication year - 2013
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.35768
Subject(s) - chromosomal translocation , intellectual disability , breakpoint , autism spectrum disorder , microarray , autism , hypotonia , genetics , deletion syndrome , gene , microarray analysis techniques , bioinformatics , biology , medicine , gene expression , psychiatry , phenotype
The 2q23.1 deletion syndrome has been recently recognized as a neurodevelopmental disorder associated with intellectual disability, epilepsy, and autism spectrum disorder. Recently, methyl‐CpG‐binding domain 5 gene ( MBD5 ), located in the 2q23.1 region, has been considered as a single causative gene of this syndrome. We report on a female patient with a de novo reciprocal translocation between chromosomes 2 and 5. Chromosomal microarray testing revealed a cryptic 896 kb deletion that included MBD5 . Although clinical manifestations of this patient are compatible with those of patients with 2q23.1 deletion syndrome, a focal pachygyria revealed by brain magnetic resonance imaging has never been observed in the previously reported cases. Obesity caused by hyperphagia was observed in our patient and 28% of the previously reported patients with the 2q23.1 deletion syndrome. For better medical management, appropriate dietary guidance against hyperphagia should be given to the patients' family. © 2013 Wiley Periodicals, Inc.