Imprinted Genes on Chromosome 6 Are Unlikely to Cause Hydatidiform Mole. A Report of Two Cases

Nanna Brink Scholz; Helle Lund; Lars Bolund; Lone Sunde

Imprinted Genes on Chromosome 6 Are Unlikely to Cause Hydatidiform Mole. A Report of Two Cases

Nanna Brink Scholz, Helle Lund, Lars Bolund, Lone Sunde

Institut for Biomedicin - Forskning og uddannelse, Bartholin Bygningen

Publikation: Bidrag til tidsskrift/Konferencebidrag i tidsskrift /Bidrag til avis › Tidsskriftartikel › Forskning › peer review

Abstract

BACKGROUND: Hydatidiform moles are associated with an excess of paternal genome set(s) or abnormal imprinting of multiple imprinted genes. However, it appears unlikely that all imprinted genes are relevant for the pathogenesis of a hydatidiform mole.

CASES: We studied two rare cases of triploid, diandric moles that were tetrasomic for chromosome 6. DNA-marker analysis showed that in one mole the fourth chromosome 6 originated in the father, and in the other mole the fourth chromosome 6 originated in the mother. Histopathologic revision disclosed that both moles were partial moles with no significant difference in the phenotypes.

CONCLUSION: It is unlikely that a major gene involved in the pathogenesis of hydatidiform mole, or a major gene involved in determining the severity of the molar phenotype, is located on chromosome 6.

Originalsprog	Engelsk
Tidsskrift	Journal of Reproductive Medicine
Vol/bind	60
Nummer	5-6
Sider (fra-til)	261-4
Antal sider	4
ISSN	0024-7758
Status	Udgivet - 2 jul. 2015

1 Afsluttet
2 Igangværende

Kortlægning af gener relevante for tidlig differentiering
Sunde, L. (Deltager), Niemann, I. (Deltager), Bolund, L. (Deltager) & Lund, H. (Deltager)
01/01/2005 → …
Projekter: Projekt › Forskning
The Danish Mole Project
Sunde, L. (Deltager), Bolund, L. (Deltager), Niemann, I. (Deltager), Fisher, R. A. (Samarbejdspartner) & Slim, R. (Deltager)
01/04/1986 → …
Projekter: Projekt › Forskning
Genetic constitutions in rare types of hydatidiform mole
Niemann, I. (Deltager), Sunde, L. (Deltager), Bolund, L. (Deltager) & Hindkjær, J. J. (Deltager)
11/04/2007 → 02/09/2023
Projekter: Projekt › Forskning

Citationsformater

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title = "Imprinted Genes on Chromosome 6 Are Unlikely to Cause Hydatidiform Mole. A Report of Two Cases",

abstract = "BACKGROUND: Hydatidiform moles are associated with an excess of paternal genome set(s) or abnormal imprinting of multiple imprinted genes. However, it appears unlikely that all imprinted genes are relevant for the pathogenesis of a hydatidiform mole.CASES: We studied two rare cases of triploid, diandric moles that were tetrasomic for chromosome 6. DNA-marker analysis showed that in one mole the fourth chromosome 6 originated in the father, and in the other mole the fourth chromosome 6 originated in the mother. Histopathologic revision disclosed that both moles were partial moles with no significant difference in the phenotypes.CONCLUSION: It is unlikely that a major gene involved in the pathogenesis of hydatidiform mole, or a major gene involved in determining the severity of the molar phenotype, is located on chromosome 6.",

author = "Scholz, {Nanna Brink} and Helle Lund and Lars Bolund and Lone Sunde",

year = "2015",

month = jul,

day = "2",

language = "English",

volume = "60",

pages = "261--4",

journal = "Journal of Reproductive Medicine",

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publisher = "Journal of Reproductive Medicine, Inc.",

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TY - JOUR

T1 - Imprinted Genes on Chromosome 6 Are Unlikely to Cause Hydatidiform Mole. A Report of Two Cases

AU - Scholz, Nanna Brink

AU - Lund, Helle

AU - Bolund, Lars

AU - Sunde, Lone

PY - 2015/7/2

Y1 - 2015/7/2

N2 - BACKGROUND: Hydatidiform moles are associated with an excess of paternal genome set(s) or abnormal imprinting of multiple imprinted genes. However, it appears unlikely that all imprinted genes are relevant for the pathogenesis of a hydatidiform mole.CASES: We studied two rare cases of triploid, diandric moles that were tetrasomic for chromosome 6. DNA-marker analysis showed that in one mole the fourth chromosome 6 originated in the father, and in the other mole the fourth chromosome 6 originated in the mother. Histopathologic revision disclosed that both moles were partial moles with no significant difference in the phenotypes.CONCLUSION: It is unlikely that a major gene involved in the pathogenesis of hydatidiform mole, or a major gene involved in determining the severity of the molar phenotype, is located on chromosome 6.

AB - BACKGROUND: Hydatidiform moles are associated with an excess of paternal genome set(s) or abnormal imprinting of multiple imprinted genes. However, it appears unlikely that all imprinted genes are relevant for the pathogenesis of a hydatidiform mole.CASES: We studied two rare cases of triploid, diandric moles that were tetrasomic for chromosome 6. DNA-marker analysis showed that in one mole the fourth chromosome 6 originated in the father, and in the other mole the fourth chromosome 6 originated in the mother. Histopathologic revision disclosed that both moles were partial moles with no significant difference in the phenotypes.CONCLUSION: It is unlikely that a major gene involved in the pathogenesis of hydatidiform mole, or a major gene involved in determining the severity of the molar phenotype, is located on chromosome 6.

M3 - Journal article

C2 - 26126314

SN - 0024-7758

VL - 60

SP - 261

EP - 264

JO - Journal of Reproductive Medicine

JF - Journal of Reproductive Medicine

IS - 5-6

ER -

Imprinted Genes on Chromosome 6 Are Unlikely to Cause Hydatidiform Mole. A Report of Two Cases

Abstract

Fingeraftryk

Projekter

Kortlægning af gener relevante for tidlig differentiering

The Danish Mole Project

Genetic constitutions in rare types of hydatidiform mole

Citationsformater