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Delineation of the cryptic 1qter deletion phenotype
Author(s) -
Merritt J. Lawrence,
Zou Ying,
Jalal Syed M.,
Michels Virginia V.
Publication year - 2007
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.31611
Subject(s) - microcephaly , subtelomere , comparative genomic hybridization , phenotype , biology , genetics , chromosome , short stature , microdeletion syndrome , corpus callosum , chromosomal rearrangement , corpus callosum agenesis , karyotype , gene , anatomy , endocrinology
The 1qter microdeletion is often reported in the literature as a part of a complex chromosome rearrangement. We describe a patient with a normal initial cytogenetic analysis later found by subtelomeric FISH to have a de novo isolated 1qter microdeletion. Further characterization was completed through microarray comparative genomic hybridization (CGH) and specific bacterial artificial chromosomes (BACs) to a region of 5.2–5.3 Mbp. Six additional cases were reviewed from a literature search. While no particular feature is specifically unique, the most frequently associated features include short stature, developmental delay and mental retardation, microcephaly, seizures, abnormal corpus callosum, and abnormal ear shape. This further delineates the phenotype and further narrows the chromosomal region responsible for a 1qter microdeletion phenotype. © 2007 Wiley‐Liss, Inc.