Transient neonatal diabetes mellitus in a child with paternal uniparental disomy of chromosome 6

被引：0
作者：
Milenkovic, T
Zdravkovic, D
Gardner, RJ
Ignjatovic, M
Jankovic, B
机构：
[1] Mother & Child Hlth Care Inst Serbia, Dept Endocrinol, Belgrade, Yugoslavia
[2] Salisbury Dist Hosp, Wessex Reg Genet Lab, Salisbury, Wilts, England
[3] Mother & Child Hlth Care Inst Serbia, Dept Neonatol, Belgrade, Yugoslavia
来源：
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM | 2001年 / 14卷 / 07期
关键词：
transient neonatal diabetes mellitus; paternal uniparental disomy; UPD6;
D O I：
暂无
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
We report a male infant with transient neonatal diabetes mellitus (TNDM; MIM 601410), macroglossia, hypertelorism, umbilical hernia, inguinoscrotal hernia and onychomycosis. Diabetes mellitus was diagnosed 10 days after birth and resolved after 6.5 months of treatment. Genetic investigation indicated the presence of paternal uniparental disomy of chromosome 6 (UPD 6). The finding of paternal LTD 6 allows prediction of a transient, rather than permanent NDM, and no increased recurrence risk of TNDM in subsequent pregnancies. Therefore, finding of NDM should be a strong indicator for genetic testing.
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页码：893 / 895
页数：3
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