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Normal phenotype with maternal isodisomy in a female with two isochromosomes: i(2p) and i(2q)


Bernasconi, Fabiana; Karagüzel, Ahmet; Celep, Figen; Keser, Ibrahim; Lüleci, Güven; Dutly, Fabrizio; Schinzel, Albert (1996). Normal phenotype with maternal isodisomy in a female with two isochromosomes: i(2p) and i(2q). American Journal of Human Genetics, 59(5):1114-1118.

Abstract

A 36-year-old normal healthy female was karyotyped because all of her five pregnancies had terminated in spontaneous abortions during the first 3 mo. Cytogenetic investigation disclosed a female karyotype with isochromosomes of 2p and 2q replacing the two normal chromosomes 2. Her husband and both of her parents had normal karyotypes. Molecular studies revealed maternal only inheritance for chromosome 2 markers. Reduction to homozygosity of all informative markers indicated that the isochromosomes derived from a single maternal chromosome 2. Except for the possibility of homozygosity for recessive mutations, maternal uniparental disomy 2 appears to have no adverse impact on the phenotype. Our data indicate that no maternally imprinted genes with major effect map to chromosome 2.

Abstract

A 36-year-old normal healthy female was karyotyped because all of her five pregnancies had terminated in spontaneous abortions during the first 3 mo. Cytogenetic investigation disclosed a female karyotype with isochromosomes of 2p and 2q replacing the two normal chromosomes 2. Her husband and both of her parents had normal karyotypes. Molecular studies revealed maternal only inheritance for chromosome 2 markers. Reduction to homozygosity of all informative markers indicated that the isochromosomes derived from a single maternal chromosome 2. Except for the possibility of homozygosity for recessive mutations, maternal uniparental disomy 2 appears to have no adverse impact on the phenotype. Our data indicate that no maternally imprinted genes with major effect map to chromosome 2.

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > Institute of Medical Genetics
Dewey Decimal Classification:570 Life sciences; biology
610 Medicine & health
Scopus Subject Areas:Life Sciences > Genetics
Health Sciences > Genetics (clinical)
Uncontrolled Keywords:Genetics
Language:English
Date:November 1996
Deposited On:18 Apr 2023 14:47
Last Modified:29 Apr 2024 01:37
Publisher:Elsevier
ISSN:0002-9297
OA Status:Closed
Free access at:PubMed ID. An embargo period may apply.
Official URL:https://europepmc.org/article/PMC/1914849
PubMed ID:8900241
Other Identification Number:PMCID: PMC1914849