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1.15 Mb microdeletion in chromosome band 20p13 associated with moderate developmental delay—Additional case and data's review
Author(s) -
JezelaStanek Aleksandra,
Kucharczyk Marzena,
Pelc Magdalena,
Gutkowska Anna,
KrajewskaWalasek Małgorzata
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.35654
Subject(s) - facial dysmorphism , genetic counseling , pediatrics , short stature , multiplex ligation dependent probe amplification , medicine , anterior fontanelle , phenotype , gene deletion , genetics , biology , anatomy , gene , exon , mutant
We report on a 9‐year‐old girl with subtelomeric 20p microdeletion. She was referred for genetic counseling because of learning difficulties/school problems. During the evaluation short stature, hypoplastic fingernails, submucous cleft palate with cleft uvula, flat feet, and frequent upper respiratory infections, as well as the large fontanelle after birth were observed. No facial dysmorphic features specific for chromosomal aberrations were present. The diagnosis of deletion of 20p13 was established by MLPA, and delineated by arrayCGH. Our report describes the third individual with this approximate deletion, and presents detailed molecular and phenotypic characteristics providing new data supporting future genotype–phenotype study. © 2012 Wiley Periodicals, Inc.