Molecular analysis of Y chromosome long arm structural instability in patients with gonadal dysfunction

Clinical Genetics

Volumn 57, Issue 4, 2000, Pages 291-295

  Jakubowski, L ^a   Jeziorowska, A ^b   Constantinou, M ^b   Kaluzewski B ^b  

^a MEDICAL UNIVERSITY OF LODZ   (Poland)

^b NONE

Author keywords

Fluorescence in situ hybridization (FISH); Genitourinary malformations; PCR Y chromosome structural aberrations; Y chromosome instability

Indexed keywords

ADOLESCENT; AGED; ARTICLE; CHILD; CHROMOSOME ANALYSIS; CHROMOSOME BREAKAGE; CHROMOSOME YQ; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GONAD DYSFUNCTION; HUMAN; MALE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEX CHROMOSOME MOSAICISM; SOUTHERN BLOTTING;

ADOLESCENT; ADULT; BLOTTING, SOUTHERN; CENTROMERE; CHILD; CHILD, PRESCHOOL; CHROMOSOME BREAKAGE; CHROMOSOME MAPPING; DNA; FEMALE; GONADAL DISORDERS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; MALE; POLYMERASE CHAIN REACTION; SEX CHROMOSOME ABERRATIONS; Y CHROMOSOME;

EID: 0034010339     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2000.570408.x     Document Type: Article

References (21)

1. Bühler EM. A synopsis of the human Y chromosome. Hum Genet 1980: 55: 145-175.
2. Davis RM. Localisation of male determining faetors in man: a thorough review of structural anomalies of the Y chromosome. J Med Genet 1981: 18: 161-195.
3. Hsu LYF. Phenolype/karyotype correlations of Y chromosome aneuploidy with emphasis on structural aberrations in postnatally diagnosed cases. Am J Med Genet 1994: 53: 108-140.
4. Kałuźewski B, Jokinen A, Hortling H, de la Chapelle A. A theory explaining the abnormality in 45,X/46,XY mosaicism with non-fluorescent Y chromosome. Presentation of three cases. Ann Génét 1978: 21: 5-11.
5. Köhler MR. Vogt PH. Interstitial deletions of repetitive DNA blocks in dicentric human Y chromosomes. Chromosoma 1994: 103: 324-330.
6. Kałużewski B, Jakubowski L, Dȩbiec-Rychter M, Grzeschik K-H, Limon J, Gibas Z. Two mosaic cases with nonfluorescent Y chromosome analysed with Y-specific DNA probes. Am J Med Genet 1988: 31: 489-503.
7. Magenis E, Donlon T. Nonflurescent Y chromosomes. Cytologic evidence of origin. Hum Genet 1982: 60: 133-138.
8. Speleman F, van der Auwera B, Mangelschots K et al. Identification and characterization of normal length nonfluorescent Y chromosomes: cytogenetic analysis. Southern hybridization and non-isotopic in situ hybridization. Hum Genet 1990: 85: 569-575.
9. Miller SA, Dykes DD. Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988: 16: 1215.
10. Sambrook J, Fritsch EF, Maniatis T. Molecular Cloning: a Laboratory Manual. New York: Cold Spring Harbor Laboratory Press, 1989.
11. Jäger RJ. Anvret M, Hall K, Scherer G. A human XY female with a frame shift mutation in the candidatetestis-determining gene SR Y. Nature 1990: 348: 452.
12. Vollrath D. Foote S. Hilton A et al. The human Y chromosome: a 43-interval map based on naturally occurring deletions. Science 1992: 258: 52-59.
13. Stuppia L, Mastroprimiano G, Calabrese G, Peila R, Tenaglia R, Palka G. Microdeletionsin interval 6 of the Y chromosome detected by STS-PCR in 6 of 33 patients with idiopathic oligoor azoospermia. Cytogenet Cell Genet 1996: 72: 155-158.
14. Vergnaud G, Page DC. Simmler M-Ch et al. A deletion map of the human Y chromosome based on DNA hybridization. Am J Hum Genet 1986: 38: 109-124.
15. Müller U, Lalande M. A physical map of the human Y-chromosome short arm. Genomics 1990: 7: 517-523.
16. Reijo R, Lee T-Y, Salo P et al. Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene. Nat Genet 1995: 10: 383-393.
17. Vogt PH, Edelmann A, Kirsch S et al. Human Y chromosome azoospermia factors (AZF) mapped to different subregions Yq11. Hum Mol Genet 1996: 5: 933-943.
18. Schmid M. Arrangement of the Y chromosome in interphase and metaphase cells. In: Sandberg AA, ed. The Y Chromosome. Part A: Basic Characteristics of the Y Chromosome. New York: Alan R Liss, 1985: 17-61.
19. Limon J, Gibas Z, Kałużewski B, Moruzgala T. Demonstration of two different regions of lateral asymmetry in human Y chromosomes. Hum Genet 1979: 51: 247-252.
20. Graves JAM. The evolution of mammalian sex chromosomes and the origin of sex determining genes. Phil Trans R Soc Lond B 1995: 350: 305-312.
21. Ellis NA.The war of the sex chromosomes. Nat Genet 1998: 20: 9-10.