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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...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Share to In Situ Hybridization, Fluorescence

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Identifiers

PMID: 8116617
PMCID: PMC1918127

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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