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BMC Medical Genetics
Published in: BMC Medical Genetics 1/2014

Open Access 01-12-2014 | Case report

Terminal chromosome 4q deletion syndrome in an infant with hearing impairment and moderate syndromic features: review of literature

Authors: Barbara Vona, Indrajit Nanda, Cordula Neuner, Jörg Schröder, Vera M Kalscheuer, Wafaa Shehata-Dieler, Thomas Haaf

Published in: BMC Medical Genetics | Issue 1/2014

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Abstract

Background

Terminal deletions of chromosome 4q are associated with a broad spectrum of phenotypes including cardiac, craniofacial, digital, and cognitive impairment. The rarity of this syndrome renders genotype-phenotype correlation difficult, which is further complicated by the widely different phenotypes observed in patients sharing similar deletion intervals.

Case presentation

Herein, we describe a boy with congenital hearing impairment and a variety of moderate syndromic features that prompted SNP array analysis disclosing a heterozygous 6.9 Mb deletion in the 4q35.1q35.2 region, which emerged de novo in the maternal germ line.

Conclusion

In addition to the index patient, we review 35 cases from the literature and DECIPHER database to attempt genotype-phenotype correlations for a syndrome with great phenotypic variability. We delineate intervals with recurrent phenotypic overlap, particularly for cleft palate, congenital heart defect, intellectual disability, and autism spectrum disorder. Broad phenotypic presentation of the terminal 4q deletion syndrome is consistent with incomplete penetrance of the individual symptoms.
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Metadata
Title
Terminal chromosome 4q deletion syndrome in an infant with hearing impairment and moderate syndromic features: review of literature
Authors
Barbara Vona
Indrajit Nanda
Cordula Neuner
Jörg Schröder
Vera M Kalscheuer
Wafaa Shehata-Dieler
Thomas Haaf
Publication date
01-12-2014
Publisher
BioMed Central
Published in
BMC Medical Genetics / Issue 1/2014
Electronic ISSN: 1471-2350
DOI
https://doi.org/10.1186/1471-2350-15-72

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