Recurrent Transmission of a 17q12 Microdeletion and a Variable Clinical Spectrum

被引：27

作者：

George, A. M. ^{[1
]}

Love, D. R. ^{[1
]}

Hayes, I. ^{[2
]}

Tsang, B. ^{[3
]}

机构：

[1] LabPlus Auckland City Hosp, Diagnost Genet, POB 110031, Auckland 1148, New Zealand

[2] LabPlus Auckland City Hosp, Northern Reg Genet Serv, Auckland, New Zealand

[3] North Shore Hosp, Dept Paediat, Auckland, New Zealand

来源：

MOLECULAR SYNDROMOLOGY | 2011年 / 2卷 / 02期

关键词：

Deletion of 17q12; Developmental delay; Diabetes mellitus; Renal cysts;

D O I：

10.1159/000335344

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The relatively rare proximal microdeletion of 17q12 (including deletion of the HNF1B gene) is associated with the renal cysts and diabetes syndrome. Recent reports have suggested that there may also be an association between this microdeletion and learning difficulties/autism. This case report describes one of only a few reported families segregating the 17q12 microdeletion, but which highlights the nonpenetrance and variable expressivity of multiple features of this condition. Copyright (C) 2011 S. Karger AG, Basel

引用

页码：72 / 75

页数：4

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