Transient neonatal diabetes mellitus in a child with invdup(6)(q22q23) of paternal origin

Eidelman I. Arthur; Joël Zlotogora; Israela Lerer; Judith Dagan; Kyla Marks; Dvorah Abeliovich

doi:10.1159/000484801

Transient neonatal diabetes mellitus in a child with invdup(6)(q22q23) of paternal origin

Eidelman I. Arthur, Joël Zlotogora, Israela Lerer, Judith Dagan, Kyla Marks, Dvorah Abeliovich

Research output: Contribution to journal › Article › peer-review

40 Scopus citations

Abstract

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 invdup(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.

Original language	English
Pages (from-to)	417-419
Number of pages	3
Journal	European Journal of Human Genetics
Volume	5
Issue number	6
DOIs	https://doi.org/10.1159/000484801
State	Published - 1 Jan 1997
Externally published	Yes

Keywords

Chromosome 6q22-23
Imprinted gene
Inversion duplication
Transient neonatal diabetes mellitus

ASJC Scopus subject areas

Genetics
Genetics(clinical)

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1159/000484801

Cite this

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abstract = "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 invdup(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.",

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AU - Arthur, Eidelman I.

AU - Zlotogora, Joël

AU - Lerer, Israela

AU - Dagan, Judith

AU - Marks, Kyla

AU - Abeliovich, Dvorah

PY - 1997/1/1

Y1 - 1997/1/1

N2 - 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 invdup(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.

AB - 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 invdup(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.

KW - Chromosome 6q22-23

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Transient neonatal diabetes mellitus in a child with invdup(6)(q22q23) of paternal origin

Abstract

Keywords

ASJC Scopus subject areas

UN SDGs

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