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

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

Record type: Article

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

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More information

Published date: November 2006
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

Identifiers

Local EPrints ID: 60055
URI: http://eprints.soton.ac.uk/id/eprint/60055
ISSN: 0334-018X
PURE UUID: 3732a064-406a-460d-8836-761797513965
ORCID for D.J. Mackay: ORCID iD orcid.org/0000-0003-3088-4401

Catalogue record

Date deposited: 05 Sep 2008
Last modified: 20 Jul 2019 01:10

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Contributors

Author: T. Milenkovic
Author: J. Martic
Author: D.O. Robinson
Author: D.J. Mackay ORCID iD
Author: K. Petrovic
Author: D. Zdravkovic

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