Transient neonatal diabetes mellitus in a child with invdup(6)(q22q23) of paternal origin

被引：33

作者：

Arthur, EI

Zlotogora, J

Lerer, I

Dagan, J

Marks, K

Abeliovich, D ^{[1
]}

机构：

[1] Hebrew Univ Jerusalem, Hadassah Univ Hosp, Dept Human Genet, Hadassah Med Sch, IL-91120 Jerusalem, Israel

[2] Shaare Zedek Med Ctr, Dept Neonatol, Jerusalem, Israel

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 1997年 / 5卷 / 06期

关键词：

transient neonatal diabetes mellitus; imprinted gene; chromosome; 6q22-23; inversion duplication;

D O I：

10.1159/000484801

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

An association between the rare condition of transient neonatal diabetes mellitus and either uniparental disomy for chromosome 6 or dup(6)(q22q23) raised the assumption that in this location on chromosome 6 there is an imprinted gene. We diagnosed diabetes that developed in a baby girl immediately after birth acid resolved after 7 weeks of insulin treatment, Due to some minor dysmorphic features, we investigated her karyotype and identified invdup(6)(q22q23), The duplication spans at least 10 cM including the DNA sites DS270, S314, S1684 and S310. This case further supports the assumption that an imprinted gene exists on chromosome 6q22-23.

引用

页码：417 / 419

页数：3

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