期刊
EUROPEAN JOURNAL OF MEDICAL GENETICS
卷 52, 期 2-3, 页码 134-139出版社
ELSEVIER
DOI: 10.1016/j.ejmg.2009.03.003
关键词
8p12p21 Deletion; NRG1; NKX2-6; Congenital heart defect; GNRH1
资金
- European Commission: AnEUploidy [LSHG-CT-2006-037627]
- The Netherlands Organization for Health Research and Development [ZON-MW 917-86-319]
- Consortium VG Oost-Nederland
Clinical and molecular characteristics of two patients with a 6.75 Mb overlapping interstitial deletion in the 8p12p21 region are described and compared with previously reported cases with an overlapping deletion. The most common characteristics of interstitial deletions of proximal 8p are developmental delay, postnatal microcephaly and growth retardation. Other frequently reported findings are hypogonadism associated with haploinsufficiency of GNRH1 and ocular problems. Congenital heart anomalies are also common and might at least to some extent be due to haploinsufficiency of NKX2-6 or NRG1. The aforementioned clinical characteristics should be considered in the care of patients with a proximal interstitial 8p12p21 deletion. (C) 2009 Elsevier Masson SAS. All rights reserved.
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