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

Journal Article · Fri Nov 01 04:00:00 EST 1996 · American Journal of Human Genetics

OSTI ID:508231

Bernasconi, F; Dutly, F; Schinzel, A A ^[1]

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1. Univ. of Zuerich (Switzerland); and others

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. 17 refs., 2 figs., 1 tab.

• OSTI ID: 508231
• Journal Information: American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: 5 Vol. 59; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
ABORTION
BANDING TECHNIQUES
BIOLOGICAL MARKERS
CHROMOSOMAL ABERRATIONS
ETIOLOGY
GENES
GENETIC MAPPING
GENETICS
HUMAN CHROMOSOME 2
HUMAN CHROMOSOMES
KARYOTYPE
PATIENTS
PHENOTYPE
SEX DEPENDENCE