Phenotypic variability in a Hungarian patient with the 4q21 microdeletion syndrome

Molecular Cytogenetics
Katalin KomlósiBéla Melegh

Abstract

Interstitial deletions of 4q21 (MIM 613509) have already been reported in more than a dozen patients with deletions ranging from 2 to 15.1 Mb delineating a common phenotype including marked growth restriction, hypotonia, severe developmental delay with absent or delayed speech and distinctive facial features. A minimal critical region of 1.37 Mb accounting for the common features with 5 known genes (PRKG2, RASGEF1B, HNRNPD, HNRPDL, and ENOPH1) has been described so far. Here we report on a 5 year-old Hungarian girl presenting with severe developmental delay, good receptive language but absent spoken speech, short stature, dystrophy, hypotonia, distinctive facies including broad forehead, frontal bossing, downward slanting palpebral fissures, hypertelorism, hypoplastic ear-lobes, anteverted nostrils, short philtrum, small mouth, higharched palate, short, small hands and feet, distally narrowing fingers and clinodactyly. Cerebral MRI showed ventricular dilation and an increase in periventricular signal intensity. After extensive metabolic tests and exclusion of subtelomeric deletions array CGH analysis was performed using the Agilent Human Genome G3 SurePrint 8x60K Microarray (Agilent Technologies, USA), which detected a 4,85 Mb ...Continue Reading

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Citations

Sep 9, 2016·American Journal of Medical Genetics. Part a·Xuyun HuYiping Shen
Apr 4, 2017·American Journal of Medical Genetics. Part a·Mehdi ZarreiStephen W Scherer
Jul 13, 2020·Journal of Cellular Physiology·Bo WangJian Hong

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Methods Mentioned

BETA
nucleotide exchange
Feature Extraction

Software Mentioned

Agilent Cytogenomics
Agilent Feature Extraction
ECARUCA
Ensembl

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