一名患有父源6号染色体单亲二体（包括6q24异源二体）的婴儿出现短暂性新生儿糖尿病。

Transient neonatal diabetes mellitus in an infant with paternal uniparental disomy of chromosome 6 including heterodisomy for 6q24.

作者信息

Milenkovic Tatjana, Martic Jelena, Robinson David O, Mackay Deborah J G, Petrovic Katarina, Zdravkovic Dragan

机构信息

Department of Endocrinology, Mother and Child Health Care Institute of Serbia, Radoja Dakica 8, 11070 Belgrade, Serbia.

出版信息

J Pediatr Endocrinol Metab. 2006 Nov;19(11):1353-7. doi: 10.1515/jpem.2006.19.11.1353.

DOI:10.1515/jpem.2006.19.11.1353

PMID:17220064

Abstract

We describe a female infant who developed transient neonatal diabetes mellitus (TNDM) (MIM 601410). At birth she presented with growth retardation and macroglossia. Diabetes was diagnosed on the fourth day of life and it resolved after two months of insulin therapy. Genetic testing revealed the presence of paternal uniparental disomy of chromosome 6 (UPD6) including heterodisomy of 6q24. This is the first documented case of uniparental heterodisomy for chromosome 6.

摘要

我们描述了一名患有短暂性新生儿糖尿病（TNDM，MIM 601410）的女婴。出生时，她表现出生长发育迟缓及巨舌症。在出生后第四天被诊断为糖尿病，经过两个月的胰岛素治疗后病情缓解。基因检测显示存在6号染色体单亲二体性（UPD6），包括6q24异源二体性。这是有记录的首例6号染色体单亲异源二体性病例。