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. 1994 Mar;54(3):482–488.

Paternal Isodisomy for Chromosome 5 in a Child with Spinal Muscular Atrophy

L M Brzustowicz, B A Allitto, D Matseoane, R Theve, L Michaud, S Chatkupt, E Sugarman, G K Penchaszadeh, L Suslak, M R Koenigsberger, T C Gilliam, B L Handelin
PMCID: PMC1918127  PMID: 8116617

Abstract

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 FISH with probes closely flanking the SMA locus confirmed the presence of two copies of chromosome 5. No developmental abnormalities, other than those attributable to classical childhood-onset SMA, were present. While the absence of a maternally derived chromosome 5 could have produced the symptoms of SMA through the mechanism of genomic imprinting, the lack of more global developmental abnormalities would be unusual. Paternal transmission of two copies of a defective gene at the SMA locus seems to be the most likely cause of disease, but proof of this will have to await the identification of the SMA gene. While uniparental isodisomy is a rare event, it must be considered as a possible mechanism involved in SMA when conducting prenatal testing and counseling for this disorder.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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