Partial trisomy 8q. Two case reports with maternal translocation and inverted insertion: phenotype analyses and reflections on the risk.

doi:10.1111/j.1399-0004.1992.tb03234.x

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Article

Partial trisomy 8q. Two case reports with maternal translocation and inverted insertion: phenotype analyses and reflections on the risk.

Clinical genetics - 1 Oct 1992

Stengel-Rutkowski S, Lohse K, Herzog C, Apacik C, Couturier J, Albert A, Belohradsky B

Abstract excerpt

Partial trisomy 8qter-->q23 or q24.1 has been reported in 15 literature cases. We add two further case reports here. Patient 1 inherited the derivative (2) of a balanced maternal reciprocal translocation t(2;8)(qter;q2300) after 2:2 disjunction and adjacent-1 segregation, and is trisomic for the segment 8qter-->q2300. Patient 2 inherited a recombinant (8) of a balanced maternal inverted insertion inv...

Topics

Abnormalities, Multiple
Child
Chromosome Aberrations
Chromosome Disorders
Chromosome Inversion
Chromosomes, Human, Pair 8
Female
Heart Defects, Congenital
Humans
Infant, Newborn

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Intellectual Disability

Pedigree

Phenotype

Risk Factors

Translocation, Genetic

Trisomy

Source

Open in PubMed

Identifiers

PMID: 1424241
DOI: 10.1111/j.1399-0004.1992.tb03234.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1424241-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Partial trisomy 8q. Two case reports with maternal translocation and inverted insertion: phenotype analyses and reflections on the risk.PMID 1424241Read ↗

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