Document Detail

Identification of the parental origin of polysomy in two 49,XXXXY cases.
MedLine Citation:
PMID:  9237509     Owner:  NLM     Status:  MEDLINE    
The parental origin and mechanism of formation of polysomy X were studied in two polysomic cases, using four X-linked restriction fragment length polymorphisms, three (CA)n dinucleotide repeat sequences and one variable number tandem repeat (VNTR) locus as genetic markers. A nonradioactive technique based on the hybridization of the polymerase chain reaction (PCR) product was developed for the analysis of dinucleotide repeats. Segregation analysis using different nonradioactive approaches based on the PCR, revealed that all four X chromosomes were of maternal origin. These data provide additional evidence of an identical mechanism of successive nondisjunctions in maternal meiosis I and II.
A Celik; S Eraslan; N Gökgöz; H Ilgin; S Başaran; I Bökesoy; H Kayserili; M Yüksel-Apak; B Kirdar
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Clinical genetics     Volume:  51     ISSN:  0009-9163     ISO Abbreviation:  Clin. Genet.     Publication Date:  1997 Jun 
Date Detail:
Created Date:  1997-09-25     Completed Date:  1997-09-25     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0253664     Medline TA:  Clin Genet     Country:  DENMARK    
Other Details:
Languages:  eng     Pagination:  426-9     Citation Subset:  IM    
Department of Molecular Biology and Genetics, Bogazici University, Istanbul, Turkey.
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MeSH Terms
Child, Preschool
Chromosome Aberrations / genetics*
Chromosome Disorders
Developmental Disabilities / genetics
Dinucleotide Repeats
Diseases in Twins
Face / abnormalities
Genetic Markers
Mental Retardation / genetics
Polymorphism, Restriction Fragment Length
Repetitive Sequences, Nucleic Acid
Twins, Dizygotic
X Chromosome*
Reg. No./Substance:
0/Genetic Markers

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