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Article

Paternal isodisomy for chromosome 5 in a child with spinal muscular atrophy.

American journal of human genetics - 1 Mar 1994

Brzustowicz L M, Allitto B A, Matseoane D, Theve R, Michaud L, Chatkupt S, Sugarman E, Penchaszadeh G K, Suslak L, Koenigsberger M R

Abstract excerpt

Paternal isodisomy for chromosome 5 was detected in a 2-year-old boy with type III spinal muscular atrophy (SMA), an autosomal recessive degenerative disorder of alpha motor neurons, known to map to 5q11.2-13.3. Examination of 17 short-sequence repeat polymorphisms spanning 5p15.1-15.3 to 5q33.3-qter produced no evidence of maternally inherited alleles. Cytogenetic analysis revealed a normal male karyotype, and...

Topics

Alleles
Child, Preschool
Chromosome Aberrations
Chromosome Mapping
Chromosomes, Human, Pair 5
Fathers
Female
Humans
In Situ Hybridization, Fluorescence
Karyotyping
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mothers

Polymorphism, Genetic

Repetitive Sequences, Nucleic Acid

Spinal Muscular Atrophies of Childhood

Source

Open in PubMed Open full text

Identifiers

PMID: 8116617
PMCID: PMC1918127

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-8116617-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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