Familial t(11;13)(q21;q14) and the duplication 11q, 13q phenotype.

doi:10.1002/ajmg.1320450113

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Article

Familial t(11;13)(q21;q14) and the duplication 11q, 13q phenotype.

American journal of medical genetics - 1 Jan 1993

Park J P, McDermet M K, Doody A M, Marin-Padilla J M, Moeschler J B, Wurster-Hill D H

Abstract excerpt

Cases of duplication of distal 11q or proximal 13q have been reported independently. A specific translocation resulting in duplication of distal 11q, [der(22)t(11;22)(q23;q11)], has been documented in over 40 cases. We report on a male fetus with chromosomal excess of both distal 11q and proximal...

Topics

Abnormalities, Multiple
Chromosomes, Human, Pair 11
Chromosomes, Human, Pair 13
Female
Fetal Diseases
Humans
Karyotyping
Male
Multigene Family
Neural Tube Defects
Phenotype
Pregnancy
Translocation, Genetic
Ultrasonography, Prenatal

Source

Open in PubMed

Identifiers

PMID: 8418658
DOI: 10.1002/ajmg.1320450113

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8418658-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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