Document Detail


Paternal isodisomy for chromosome 5 in a child with spinal muscular atrophy.
MedLine Citation:
PMID:  8116617     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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 mechanisms 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.
Authors:
L M Brzustowicz; B A Allitto; D Matseoane; R Theve; L Michaud; S Chatkupt; E Sugarman; G K Penchaszadeh; L Suslak; M R Koenigsberger
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  American journal of human genetics     Volume:  54     ISSN:  0002-9297     ISO Abbreviation:  Am. J. Hum. Genet.     Publication Date:  1994 Mar 
Date Detail:
Created Date:  1994-03-25     Completed Date:  1994-03-25     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  0370475     Medline TA:  Am J Hum Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  482-8     Citation Subset:  IM    
Affiliation:
Department of Psychiatry, Columbia University, College of Physicians and Surgeons, New York, NY.
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MeSH Terms
Descriptor/Qualifier:
Alleles
Child, Preschool
Chromosome Aberrations*
Chromosome Mapping
Chromosomes, Human, Pair 5*
Fathers
Female
Humans
In Situ Hybridization, Fluorescence
Karyotyping
Male
Mothers
Polymorphism, Genetic
Repetitive Sequences, Nucleic Acid
Spinal Muscular Atrophies of Childhood / genetics*
Grant Support
ID/Acronym/Agency:
1R01 NS8877-01/NS/NINDS NIH HHS; R29 NS29893/NS/NINDS NIH HHS; S07 RR05393/RR/NCRR NIH HHS
Comments/Corrections

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