Phenotypical characterization of 13q deletion syndrome: Report of two cases.
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Date
2014-04
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Abstract
Patients with 13q deletion syndrome are characterized
with different phenotypical features depending on the size
and location of the deleted region on chromosome 13.
These patients fall into three groups: In Group 1, deleted
region is in the proximal and does not extend into q32; in
Group 2, deleted region involves proximal to the q32 and
in Group 3 q33‑q34 is deleted. We present two cases with
13q syndrome with two different deleted region and different
severity on clinical features: One case with interstitial
deletion belongs to the Group 1 with mild mental retardation
and minor malformations and the other case with terminal
deletion belongs to Group 3 with moderate to severe mental
retardation and major malformations.
Description
Keywords
13q deletion syndrome, mental retardation, multiple anomalies
Citation
Bagherizadeh Eiman, Shafaghati Yousef, Hadipour Fatemeh, Behjati Farkhondeh. Phenotypical characterization of 13q deletion syndrome: Report of two cases. Indian Journal of Human Genetics. 2014 Apr-Jun ; 20 (2): 203-205.