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Article

Different phenotypes in two cases of an apparently identical familial (Yq;13p) translocation.

Human reproduction (Oxford, England) - 1 Apr 1992

Doneda L, Magnani I, Tibiletti M G, Dalprà L, Larizza L

Abstract excerpt

A chromosome 13 with extra material on the short arm was observed in a 17-year-old boy showing defects in skeletal growth, an altered hormone profile and asthenoteratozoospermia, and in a 46 XX fetus subjected to prenatal diagnosis. The abnormal chromosome 13 had been transmitted from phenotypically normal parents who were the mother (case 1) and the father (case 2). The extra material on the abnormal chromosome...

Topics

Adolescent
Adult
Autoradiography
Chromosome Banding
Chromosomes, Human, Pair 13
DNA Probes
Female
Humans
Karyotyping
Male
Microscopy, Fluorescence
Nucleic Acid Hybridization

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Pedigree

Phenotype

Pregnancy

Translocation, Genetic

Y Chromosome

Source

Identifiers

PMID: 1522192
DOI: 10.1093/oxfordjournals.humrep.a137678

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1522192-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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Different phenotypes in two cases of an apparently identical familial (Yq;13p) translocation.PMID 1522192Read ↗

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