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Identification of the parental origin of polysomy in two 49,XXXXY cases
Author(s) -
Çelik Arzu,
Eraslan Serpil,
Gökgöz Nalan,
Ilgin Hatice,
Baçaran Seher,
Bökesoy Işik,
Kayserili Hülya,
YükselApak Memnune,
Kirdar Betül
Publication year - 1997
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1997.tb02504.x
Subject(s) - genetics , biology , polysomy , meiosis , polymerase chain reaction , variable number tandem repeat , locus (genetics) , restriction fragment length polymorphism , aneuploidy , microbiology and biotechnology , tandem repeat , fluorescence in situ hybridization , gene , allele , chromosome , genome
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.