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Delineation of the proximal 3q microdeletion syndrome
Author(s) -
Simovich Marcia J.,
Bland Steven D.,
Peiffer Daniel A.,
Gunderson Kevin L.,
Cheung Sau Wai,
Yatsenko Svetlana A.,
Shinawi Marwan
Publication year - 2008
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.32292
Subject(s) - craniofacial , craniofacial abnormality , phenotype , genetics , tetralogy of fallot , medicine , biology , gene , pathology , heart disease
Interstitial deletions of the proximal long arm of chromosome 3 are very rare and a defined clinical phenotype is not established yet. We report on the clinical, cytogenetic and molecular findings of a 20‐month‐old Hispanic male with a 2.5 Mb de novo deletion on q13.11q13.12. Up to now, this is the smallest deletion reported among patients with the proximal 3q microdeletion syndrome. The patient has distinct facial features including brachycephaly, broad and prominent forehead, flat nasal bridge, prominent ears, anteverted nose, tetralogy of Fallot, bilateral cryptorchidism, and peripheral skeletal abnormalities. To further delineate the proximal 3q deletion syndrome, the phenotype of our patient was compared with 10 other patients previously described. We found that ALCAM and CBLB are the only genes deleted in our patient and based on previously published data, we propose that the CBLB gene is responsible for the craniofacial phenotype in patients with deletions of proximal 3q region. © 2008 Wiley‐Liss, Inc.