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

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

diabetes, diagnosis, therapeutic use, treatment outcome, pair 6, genetic, infant, growth, hypoglycemic agents, birth, genetics, chromosomes, agents, female, endocrinology, report, human, hyperglycemia, diabetes complications, etiology, insulin, therapy, fetal growth retardation, uniparental disomy, macroglossia, humans, complications, child, polymorphism, newborn, health, diabetes mellitus, drug therapy

0334-018X

1353-1357

http://www.ncbi.nlm.nih.gov/pubmed/17220064

Milenkovic, T.

fa014362-6142-43bb-bf74-71d1635a24d6

Martic, J.

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Robinson, D.O.

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Mackay, D.J.

588a653e-9785-4a00-be71-4e547850ee4a

Petrovic, K.

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Zdravkovic, D.

1ee435ee-c5db-4be1-b33f-fc182da5c916

November 2006

Milenkovic, T.

fa014362-6142-43bb-bf74-71d1635a24d6

Martic, J.

c61bd433-b48f-4236-87c2-542a2275dd74

Robinson, D.O.

6b7e8cdc-b9c4-4ecf-a344-1bf0ae990f8a

Mackay, D.J.

588a653e-9785-4a00-be71-4e547850ee4a

Petrovic, K.

b5652c9a-0026-4929-b7ea-9a2280bd63c1

Zdravkovic, D.

1ee435ee-c5db-4be1-b33f-fc182da5c916

Milenkovic, T., Martic, J., Robinson, D.O., Mackay, D.J., Petrovic, K. and Zdravkovic, D. (2006) Transient neonatal diabetes mellitus in an infant with paternal uniparental disomy of chromosome 6 including heterodisomy for 6q24. Journal of Pediatric Endocrinology and Metabolism, 19 (11), 1353-1357.

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Published date: November 2006

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http://www.unboundmedicine.com..._for_6q24_

Keywords: diabetes, diagnosis, therapeutic use, treatment outcome, pair 6, genetic, infant, growth, hypoglycemic agents, birth, genetics, chromosomes, agents, female, endocrinology, report, human, hyperglycemia, diabetes complications, etiology, insulin, therapy, fetal growth retardation, uniparental disomy, macroglossia, humans, complications, child, polymorphism, newborn, health, diabetes mellitus, drug therapy

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