In:
American Journal of Medical Genetics Part A, Wiley, Vol. 170, No. 3 ( 2016-03), p. 743-749
Abstract:
The association of maternal uniparental disomy of human chromosome 7 (upd(7) mat) and the growth retardation disorder Silver–Russell syndrome (SRS) is well established, but the causative gene or region is currently unknown. However, several observations indicate that molecular alterations of the genomically imprinted MEST region in 7q32.2 are associated with growth retardation and a phenotype reminiscent to SRS. We now report on a second patient with a similar phenotype and a de novo 7q32.2 microdeletion including MEST affecting the paternal allele. This confirms the central role of imprinted genes in 7q32.2 in the etiology of a growth retardation phenotype associated with SRS features. © 2015 Wiley Periodicals, Inc.
Type of Medium:
Online Resource
ISSN:
1552-4825
,
1552-4833
DOI:
10.1002/ajmg.a.v170.3
DOI:
10.1002/ajmg.a.37492
Language:
English
Publisher:
Wiley
Publication Date:
2016
detail.hit.zdb_id:
1493479-6
SSG:
12
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