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Frontonasal dysplasia, callosal agenesis, basal encephalocele, and eye anomalies syndrome with a partial 21q22.3 deletion
Author(s) -
GuionAlmeida Maria Leine,
RichieriCosta Antonio,
Jehee Fernanda Sarquis,
PassosBueno Maria Rita Santos,
ZechiCeide Roseli Maria
Publication year - 2012
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.35351
Subject(s) - encephalocele , karyotype , biology , anatomy , basal (medicine) , phenotype , agenesis , genetics , gene , chromosome , endocrinology , insulin
We describe a girl with a phenotype characterized by frontonasal dysplasia, callosal agenesis, basal encephalocele, and eye anomalies who presents a 46,XX,r(21) karyotype. Array‐comparative genomic hybridization using the Afflymetrix 100K DNA oligoarray set showed an interstitial deletion 21q22.3 of approximately 219 kb. Conventional karyotype of both parents was normal, and it was not possible to perform the molecular studies. In this report we raise the hypothesis that the deleted genes located at 21q22.3 could account to the phenotype. © 2012 Wiley Periodicals, Inc.