Deletion of 16q22.2q23.3 in a Boy with a Phenotype Reminiscent of Silver-Russell Syndrome-Reference-Cited by-同舟云学术

Deletion of 16q22.2q23.3 in a Boy with a Phenotype Reminiscent of Silver-Russell Syndrome

Published:2021 Issue:5 Volume:12 Page:300-304
ISSN:1661-8769
Container-title:Molecular Syndromology
language:en
Short-container-title:Mol Syndromol

Author:

Lengyel Anna,Pinti Éva,Eggermann Thomas,Fekete György,Haltrich Irén

Abstract

A 15-month-old boy presented with growth and global developmental delay, feeding difficulties, sleep disturbance and several minor anomalies, including a large anterior fontanel, relative macrocephaly, and a triangular face. Clinical suspicion prompted genetic investigations for Silver-Russell syndrome and related disorders. SNP array analysis led to the diagnosis of an approximately 10-Mb large deletion of the long arm in chromosome 16q22.2q23.3. Interstitial deletions of 16q show a wide variability of related features; however, considering the differences in size and location of the deletions in the known patients, the phenotypic overlap is surprising. Here, we report a novel microdeletion, compare the proband with data from scientific literature and international databases, and discuss possible diagnostic implications.

Publisher

S. Karger AG

Subject

Genetics (clinical),Genetics

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