Transient Neonatal Diabetes mellitus in a Child with invdup(6)(q22q23) of Paternal Origin

被引：0
作者：
Eidelman I. Arthur
Joël Zlotogora
Israela Lerer
Judith Dagan
Kyla Marks
Dvorah Abeliovich
机构：
[1] Hebrew University Hadassah Medical School,Department of Neonatology, Shaare Zedek Medical Center
[2] Hadassah Hebrew University Hospital,Department of Human Genetics
[3] Hebrew University Hadassah Medical School,undefined
来源：
European Journal of Human Genetics | 1997年 / 5卷 / 6期
关键词：
Transient neonatal diabetes mellitus; Imprinted gene; Chromosome 6q22–23; Inversion duplication;
D O I：
10.1007/BF03405952
中图分类号：
学科分类号：
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 and resolved after 7 weeks of insulin treatment. Due to some minor dysmorphic features, we investigated her karyotype and identified inv-dup(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
收藏
页码：417 / 419
页数：2
相关论文
共 54 条
[1]  
Shield JP(1997)Aetiology and genetic basis of neonatal diabetes Arch Dis Child Fetal Neonatal Ed 76 F39-42
[2]  
Gardner RJ(1994)Molecular diagnosis of Prader-Willi syndrome: Parent-of-origin dependent methyl-ation sites and non-isotopic detection of (CA)n dinucleotide repeat polymorphisms Am J Med Genet 52 79-84
[3]  
Wadsworth EJ(1994)Isodisomy of chromosome 6 in a newborn with methylmalonic acidemia and agenesis of pancreatic beta cells causing diabetes mellitus J Clin Invest 94 418-421
[4]  
Whiteford EL(1996)An imprinted gene(s) for diabetes (?) Nat Genet 9 110-112
[5]  
James RS(1997)Paternal uniparental disomy for chromosome 6 causing transient neonatal diabetes J Med Genet 34 167-168
[6]  
Robinson DO(1990)Partial duplication of the long arm of chromosome 6: A clinically recognizable syndrome J Med Genet 27 523-526
[7]  
Baum JD(1995)Partial trisomy of chromosome 6q, an interstitial duplication of the long arm (abstract 741) Am J Hum Genet 53 A131-1124
[8]  
Temple IK(1995)Further evidence for an imprinted gene for neonatal diabetes localised to chromosome 9q22–q23 Hum Mol Genet 5 1117-undefined
[9]  
Lerer I(undefined)undefined undefined undefined undefined-undefined
[10]  
Meiner V(undefined)undefined undefined undefined undefined-undefined
123456