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Article

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

American journal of human genetics - 1 Nov 1996

Bernasconi F, Karagüzel A, Celep F, Keser I, Lüleci G, Dutly F, Schinzel A A

Abstract excerpt

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....

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Identifiers

PMID: 8900241
PMCID: PMC1914849

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Normal phenotype with maternal isodisomy in a female with two isochromosomes: i(2p) and i(2q)PMID 8900241Read ↗

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