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Article

[Familial chromosome translocation (1;5;15) as a cause of partial trisomy 1p].

Klinische Padiatrie - 1 Jan 2000

Schürmann M, Wethling H, Niemeyer M L, Schwinger E

Abstract excerpt

An unbalanced structural chromosome aberration was found in a 6-year-old girl. Mother and maternal grandmother were shown to be carriers of a complex balanced translocation involving chromosomes 1, 5 and 15 and are of normal phenotype. The unbalanced status in the proband was defined as a partial trisomy 1p21-1p31. Partial trisomies of this chromosomal segment have rarely been reported. Unexpectedly, the...

Topics

Abnormalities, Multiple
Child, Preschool
Chromosome Aberrations
Chromosome Disorders
Chromosomes, Human, Pair 1
Chromosomes, Human, Pair 15
Chromosomes, Human, Pair 5
Developmental Disabilities
Female
Humans
Karyotyping

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Pedigree

Phenotype

Translocation, Genetic

Trisomy

Source

Identifiers

PMID: 2435950
DOI: 10.1055/s-2008-1026754

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-2435950-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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[Familial chromosome translocation (1;5;15) as a cause of partial trisomy 1p].PMID 2435950Read ↗

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Girl with monosomy 1p36 and Angelman syndrome due to unbalanced der(1) transmission of a maternal translocation t(1;15)(p36.3;q13.1)Semantic proximity Read ↗

Structural chromosomal mosaicism and prenatal diagnosisSemantic proximity Read ↗

Trisomy 15 mosaicism owing to familial reciprocal translocation t(1;15): implication for prenatal diagnosisSemantic proximity Read ↗

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