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Article

Duplication 16q12----qter arising from 3:1 segregation in a 46,XX,t(13;16) (q12;q12) mother.

Annales de genetique - 1 Jan 1990

Pérez-Castillo A, Martin-Lucas M A, Abrisqueta J A

Abstract excerpt

A congenitally abnormal female baby was found to have the karyotype 46, XX, +der (16) t (13; 16) (q12;q12) mat. GTG, QFQ, CBG, THA and Ag-NOR banding techniques allowed the identification of the abnormal chromosomes in the proposita and in the translocation carriers through three generations. Duplication 16q resulted from 3:1 segregation in the carrier mother. The hypothesis of a specific meiotic segregation for...

Topics

Abnormalities, Multiple
Adult
Chromosome Aberrations
Chromosome Disorders
Chromosomes, Human, Pair 13
Chromosomes, Human, Pair 16
Female
Humans
Infant, Newborn
Pedigree
Phenotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Pregnancy

Translocation, Genetic

Source

Identifiers

PMID: 2241087

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-2241087-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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