Document Detail

Maternal origin of a unique extra chromosome, der(9)(pter-->q13::q13-->q12:) in a girl with typical trisomy 9p syndrome.
MedLine Citation:
PMID:  11471168     Owner:  NLM     Status:  MEDLINE    
We report on a girl with the typical trisomy 9p syndrome who had an additional E-sized metacentric chromosome. On the basis of GTG- and CBG-banding, her karyotype was considered to be 47,XX,+der(9)(pter-->q13::q13-->q12:) de novo. Results of a fluorescence in situ hybridization study using a chromosome 9-specific painting probe were compatible with this cytogenetic interpretation. Molecular analyses of six highly polymorphic dinucleotide repeat loci on the short arm and the proximal long arm of chromosome 9 demonstrated that the girl inherited one allele from her father and two identical or different alleles from the mother. We speculated that the extra chromosome may have resulted from either nondisjunction of chromosome 9 followed by a U-type exchange and a crossing-over between different sister chromatids during maternal meiosis I and subsequent breakage and malsegregation during meiosis II, or nondisjunction during meiosis II followed by isochromosome formation in one of the two maternal chromosomes 9 and subsequent breakage.
M Teraoka; K Narahara; Y Yokoyama; S Ninomiya; S Mizuta; T Une; Y Seino
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of medical genetics     Volume:  102     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  2001 Jul 
Date Detail:
Created Date:  2001-07-25     Completed Date:  2001-08-23     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  United States    
Other Details:
Languages:  eng     Pagination:  25-8     Citation Subset:  IM    
Copyright Information:
Copyright 2001 Wiley-Liss, Inc.
Department of Pediatrics, Okayama University Medical School, Okayama, Japan.
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MeSH Terms
Child, Preschool
Chromosome Mapping
Chromosomes, Human, Pair 9 / genetics*
Cytogenetic Analysis
Family Health
In Situ Hybridization, Fluorescence
Microsatellite Repeats / genetics
Polymorphism, Genetic

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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