Molecular investigation of two male subjects with short stature and a 45,X/46,X,Ring(Y) karyotype

Hormone Research

Volumn 49, Issue 1, 1998, Pages 46-50

  Sher, Ellen S ^a   Addelston, Miriam B ^a   Plotnick, Leslie ^a   Urban, Maria D ^b   Berkovitz, Gary D ^a,c  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b WRIGHT STATE UNIVERSITY   (United States)

^c UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

Author keywords

Ring Y chromosome; Sex differentiation; Short stature; Ullrich Turner syndrome

Indexed keywords

DNA;

ARTICLE; CASE REPORT; CHILD; CHROMOSOME DELETION; HUMAN; KARYOTYPE; MALE; PRESCHOOL CHILD; PRIORITY JOURNAL; RING CHROMOSOME; SCHOOL CHILD; SHORT STATURE; TURNER SYNDROME; X CHROMOSOME; Y CHROMOSOME;

ANTIGENS, CD; BODY HEIGHT; CELL ADHESION MOLECULES; CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; CLONING, MOLECULAR; DNA PRIMERS; HUMANS; KARYOTYPING; MALE; RING CHROMOSOMES; SEX CHROMOSOME ABERRATIONS; Y CHROMOSOME;

EID: 0031984433     PISSN: 03010163     EISSN: None     Source Type: Journal    
DOI: 10.1159/000023125     Document Type: Article

References (21)

1. Jacobs PA: Mutation rates of structural chromosomal rearrangements in man. Am J Hum Genet 1981;33:44-54.
2. Daniel A, Malafie JP, Preece K, Chia N, Nelson J, Smith M: Identification of marker chromosomes in thirteen patients using FISH probing. Am J Med Genet 1994;53:8-18.
3. Pohlschmidt M, Rappold G. Krause M, Ahlert D, Hosenfeld D, Weissenbach J, Gal A: Ring Y chromosome: Molecular characterization by DNA probes. Cytogenet Cell Genet 1991;56: 65-68.
4. Wegner RD, Scherer G, Pohlschmidt M, L'Allemarel D, Gal A: Ring Y chromosome: Cytogenetic and molecular characterization. Clin Genet 1992;42:71-75.
5. Pezzolo A, Perroni L, Gimelli G, Arslanian A, Porta S, Giandullia P, Giandullia E: Identification of ring Y chromosome: Cytogenetic analysis, Southern blot and fluorescent in situ hybridization. Ann Genet 1993;36:121-125.
6. Sambrook J, Fritsch EF, Maniatis T: Analysis and cloning of eukaryotic genomic DNA; in Molecular Cloning: A Laboratory Manual, ed 2. Cold Spring Harbor, Cold Spring Harbor Laboratory, 1989, pp 174-177.
7. Fechner PY, Smith KD, Jabs EW, Migeon CJ, Berkovitz GD: Partial gonadal dysgenesis in a patient with a marker Y chromosome. Am J Med Genet 1992;42:807-812.
8. Vollrath D, Foole S, Hilton A, Brown LG, Beer-Romero P, Bogan JS, Page DC: The human Y chromosome: A 43-interval map based on naturally occurring deletions. Science 1992; 258:52-59.
9. Ma K, Inglis JD, Sharkey A, Bickmore WA, Hill RE, Presser EF, Speed RM, Thompson EJ, Jobling M, Taylor K, Wolfe J, Cooke HG, Hargreave TB, Chandler AL: A Y chromosome gene family with RNA-binding protein homology: Candidates for the azoospermia factor AZF controlling human spermatogenesis. Cell 1993;75:1287-1295.
10. Ellis N, Taylor A, Bengtsson BO, Kidd J, Rogers J, Goodfellow P: Population structure of the human pseudoautosomal boundary. Nature 1990;344:663-665.
11. Smith MJ, Goodfellow PJ, Goodfellow PN: The genomic organization of the human pseudoautosomal gene MIC2 and the detection of a related locus. Hum Molec Genet 1993;2:417-422.
12. Vergnaud G, Page DC, Simmler MC, Brown L, Rouyer F, Noel B, Botstein D, de la Chapelle A, Weissenbach J: A deletion map of the human Y chromosome based on DNA hybridization. Am J Hum Genet 1986;38:109-124.
13. Blizzard RM, Johanson A: Disorders of growth; in Kappy MS, Blizzard RB, Migeon CJ (eds): Wilkins, The Diagnosis of Endocrine Disorders in Childhood and Adolescence. Springfield, Thomas, 1994, pp 414-415.
14. Salo P, Daariaineri H, Page DC, de la Chapelle A: Deletion mapping of stature determinants on the long arm of the Y chromosome. Hum Genet 1995;95:283-286.
15. Fisher EML, Beer-Romero P, Brown LG, Ridley A, McNeil JA, Lawrence JB, Wiilard HF, Beiber FR, Page DC: Homologous ribosomal protein genes on the human X and Y chromosomes: Escape from X inactivation and possible implications for Turner syndrome. Cell 1990;63:1205-1208.
16. Weissenbach J, Goodfellow PN: Report of the committee on the genetic constitution of the Y chromosome. Cytogenet Cell Genet 1989;58: 967-985.
17. Ogata T, Tyler-Smith C, Purvis-Smith S, Turner G: Chromosomal localisation of gene(s) for Turner stigmata of Yp. J Med Genet 1993;30: 918-922.
18. Chang JH, Clark RD, Bachman H: The phenotype of 45,X/46,XY mosaicism: An analysis of 92 prenatally diagnosed cases. Am J Hum Genet 1990;46:156-157.
19. Hsu LYF: Prenatal diagnosis of 45,X/46,XY mosaicism - A review and update. Prenat Diagn 1989;9:31-48.
20. Wong C, Kazazian HH Jr, Stetten G, Earnshaw WC, Van Keuren ML, Antonarakis SE: Molecular mechanism in the formation of a human ring chromosome 21. Proc Natl Acad Sci USA 1989;86:1914-1918.
21. McGinnis MJ, Kazazian HH Jr, Stetten G, Petersen MB, Boman H, Engel E, Greenberg F, Hertz JM, Johnson A, Laca Z, Mikkelsen M, Patil SR, Schnizel AA, Tranebjaerg L, Antonarakis SE: Mechanisms of ring chromosome formation in 11 cases of human ring chromosome 21. Am J Hum Genet 1992;50:15-28.