TY  - JOUR
A1  - Haaf, Thomas
A1  - Vona, Barbara
A1  - Nanda, Indrajit
A1  - Neuner, Cordula
A1  - Schröder, Jörg
A1  - Kalscheuer, Vera M.
A1  - Shehata-Dieler, Wafaa
T1  - Terminal chromosome 4q deletion syndrome in an infant with hearing impairment and moderate syndromic features: review of literature
N2  - 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.
KW  - Genotype-phenotype association
KW  - Copy number variation
KW  - Parent-of-origin
KW  - SNP array
KW  - Terminal 4q deletion syndrome
Y1  - 2014
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-110540
ER  -