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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 bot...

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Share to Abortion, Spontaneous
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 8900241
PMCID: PMC1914849

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-8900241-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

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

Uniparental isodisomy for paternal 2p and maternal 2q in a phenotypically normal female with two isochromosomes, i(2p) and i(2q).Semantic proximity Read ↗

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Maternal uniparental disomy 22 has no impact on the phenotype.Semantic proximity Read ↗

Non-pathological paternal isodisomy of chromosome 2 detected from a genome-wide SNP scan.Semantic proximity Read ↗

Initial maternal meiotic I error leading to the formation of a maternal i(2q) and a paternal i(2p) in a healthy maleSemantic proximity Read ↗

Uniparental disomy, isodisomy, and imprinting: probable effects in man and strategies for their detection.Semantic proximity Read ↗

Maternal isodisomy of chromosome 9 with no impact on the phenotype in a woman with two isochromosomes: i(9p) and i(9q).Semantic proximity Read ↗

Mosaic genome-wide maternal isodiploidy: an extreme form of imprinting disorder presenting as prenatal diagnostic challengeSemantic proximity Read ↗

Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy.Semantic proximity Read ↗

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