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Article

Monosomy of 1p13.3-22.3 in twins.

Clinical genetics - 1 Mar 1991

Dockery H, Van der Westhuyzen J

Abstract excerpt

Twin girls with deletion 1p13.3----22.3 are reported. They are characterised by psychomotor retardation, short stature, narrowing of the external auditory meati and abnormalities of the digits. A high resolution analysis revealed the karyotype to be: 46,XX,-1,-4,-9,-18, +der(1)t(1:9) (p22.3;q13)inv(1)(p13.2:q25) del (1)(p13.3----22.3)t(4:18)(4qter----4q32::18q22----1 8qter; 18qter----18q22::4q32----4qter). A...

Topics

Adult
Chromosome Aberrations
Chromosome Disorders
Chromosomes, Human, Pair 1
Female
Gene Rearrangement
Humans
Karyotyping
Monosomy
Phenotype
Translocation, Genetic
Twins

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Source

Identifiers

PMID: 2036744
DOI: 10.1111/j.1399-0004.1991.tb03016.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-2036744-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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