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Complex Phenotype Associated with 17q21.31 Microdeletion

Overview
Journal Mol Syndromol
Date 2013 Oct 30
PMID 24167466
Citations 5
Authors
H Dornelles-Wawruk
A Pic-Taylor
C Rosenberg
A C V Krepischi
H P N Safatle
I Ferrari
J F Mazzeu
Affiliations
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Abstract

We report on a patient carrying a 17q21.31 microdeletion and exhibiting many common syndrome features, together with other clinical signs which have rarely or never been described to date. The detected 695-kb 17q21.31 deletion is larger than in most previously reported cases but is still probably the result of recombination between flanking low-copy repeats. Due to the complexity of the patient's clinical condition, together with the presence of 3 previously unreported symptoms, namely chronic anemia, cervical vertebrae arthrosis and vertebrae fusion, this case is an important addition to the existing knowledge about the 17q21.31 microdeletion syndrome.

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