A reinvestigation of non-disjunction resulting in 47, XXY males of paternal origin

European Journal of Human Genetics

Volumn 8, Issue 10, 2000, Pages 805-808

  Thomas, N Simon ^a   Collins, Andrew R ^b   Hassold, Terry J ^c   Jacobs, Patricia A ^a,b  

^a SALISBURY DISTRICT HOSPITAL   (United Kingdom)

^b SOUTHAMPTON GENERAL HOSPITAL   (United Kingdom)

^c CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Microdeletion; PAR 1; PAR 2; Recombination; Sex chromosome non disjunction

Indexed keywords

ARTICLE; AUTOSOME; CHROMOSOME ANALYSIS; CHROMOSOME MAP; CHROMOSOME POLYMORPHISM; CHROMOSOME XQ; CHROMOSOME YQ; CROSSING OVER; GENE DELETION; GENE FREQUENCY; GENETIC LINKAGE; GENETIC RECOMBINATION; HUMAN; KARYOTYPE 47,XXY; MAJOR CLINICAL STUDY; MALE; MEIOSIS; NONDISJUNCTION; PATERNAL AGE; PRIORITY JOURNAL; X CHROMOSOME; Y CHROMOSOME;

ADULT; CASE-CONTROL STUDIES; DNA; FEMALE; GENE DELETION; HUMANS; MALE; MICROSATELLITE REPEATS; NONDISJUNCTION, GENETIC; RECOMBINATION, GENETIC; SEX CHROMOSOME ABERRATIONS; TELOMERE; X CHROMOSOME; Y CHROMOSOME;

RICKETTSIA SP. PAR;

EID: 0033777149     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200531     Document Type: Article

References (22)

1. Nondisjunction in the human male
2. Klinefelter's syndrome: An analysis of the origin of the additional sex chromosome using molecular probes
3. Reduced recombination and paternal age effect in Klinefelter syndrome
4. Turner syndrome: A cytogenetic and molecular study
5. Genetic homology and crossing over in the X and Y chromosomes in mammals
6. Genetic map of the human pseudoautosomal region reveals a high rate of recombination in female meiosis at the Xp telomere
7. On the nature and extent of XY pairing at meiotic prophase in man
8. Identification of a second pseudoautosomal region near the Xq and Yq telomeres
9. Recombination and allelic association in the Xq/Yq homology region
10. The sequence organisation of the long arm pseudoautosomal region of the human sex chromosomes
11. Prophase of meiosis in human spermatocytes analysed by EM microspreading in infertile men and their controls and comparisons with human oocytes
12. The frequency of chromosome abnormalities detected in consecutive newborn studies
13. XY chromosome nondisjunction in man is associated with diminished recombination in the pseudoautosomal region
14. Role of the pseudoautosomal region in sex-chromosome pairing during male meiosis: Meiotic studies in a man with a deletion of distal Xp
15. Deletion of the pseudoautosomal region and lack of sex-chromosome pairing at pachytene in two infertile men carrying a X;Y translocation
16. SHOX mutations in dyschondrosteosis (Leri-Weill syndrome)
17. Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis
18. Linkage map integration
19. A mapping function for man
20. Non-disjunction of chromosome 18
21. Double crossover in the human Xp/Yp pseudoautosomal region and its bearing on interference
22. Single sperm typing demonstrates that reduced recombination is associated with the production of aneuploid 24, XY human sperm