A man who inherited his SRY gene and Leri-Weill dyschondrosteosis from his mother and neurofibromatosis type 1 from his father

American Journal of Medical Genetics

Volumn 102, Issue 4, 2001, Pages 353-358

  Wei, Fanglin ^a   Cheng, Sou ^a   Badie, Nicole ^b   Elder, Frederick ^c   Scott Jr , Charles ^a   Nicholson, Linda ^a   Ross, Judith L ^a   Zinn, Andrew R ^b  

^a UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^b NEMOURS ALFRED I DUPONT HOSPITAL FOR CHILDREN   (United States)

^c THOMAS JEFFERSON UNIVERSITY   (United States)

Author keywords

Leri Weill dyschondrosteosis; Mosaicism; Pseudoautosomal region; Sex chromosome abnormalities; SHOX; SRY; Turner syndrome

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CHROMOSOME DISORDER; CHROMOSOME MOSAICISM; DYSCHONDROSTEOSIS; HAPLOTYPE; HUMAN; HUMAN CELL; KARYOTYPE; MALE; NEUROFIBROMATOSIS; PRIORITY JOURNAL; SEGREGATION ANALYSIS; SEX CHROMOSOMAL INHERITANCE; SEX CHROMOSOME ABERRATION; SEX DIFFERENCE; TURNER SYNDROME;

ADULT; CHROMOSOME BANDING; DNA-BINDING PROTEINS; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; MALE; NEUROFIBROMATOSIS 1; NUCLEAR PROTEINS; OSTEOCHONDRODYSPLASIAS; PEDIGREE; SEX DETERMINATION (GENETICS); SEX-DETERMINING REGION Y PROTEIN; TRANSCRIPTION FACTORS;

EID: 0035451571     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/1096-8628(20010901)102:4<353::AID-AJMG1481>3.0.CO;2-7     Document Type: Article

References (26)

1. Familial case of 46,XX male and 46,XX true hermaphrodite associated with a paternal-derived SRYbearing X chromosome
2. SHOX mutations in dyschondrosteosis (Leri-Weill syndrome)
3. A unique dicentric X;Y translocation with Xq and Yp breakpoints: Cytogenetic and molecular studies
4. X/Y translocation in a family with Leri-Weill dyschondrosteosis
5. The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome
6. SHOX gene mutations and deletions in dyschondrosteosis or Leri-Weill syndrome
7. Strong linkage disequilibrium between the XY274 polymorphism and the pseudoautosomal boundary
8. Establishment of permanent cell lines by Epstein-Barr virus transformation. Current protocols in human genetics
9. Are t(X;Y) (p22;q11) translocations in females frequently associated with Madelung deformity?
10. Prune-belly syndrome and other anomalies in a stillborn fetus with a ring X chromosome lacking XIST
11. Incomplete masculinization of XX subjects carrying the SRY gene on an inactive X chromosome
12. IXDB, an X chromosome integrated database
13. Turner syndrome
14. A minority of 46,XX true hermaphrodites are positive for the Y-DNA sequence including SRY
15. Differential contribution of stature phenotypes to assortative mating in parents of Philadelphia black and white school children
16. Deletion mapping of the testis determining locus with DNA probes in 46,XX males and in 46,XY and 46,X,dic(Y) females
17. Short arm rearrangements of sex chromosomes with haploinsufficiency of the SHOX gene are associated with Leri-Weill dyschondrosteosis
18. Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome
19. Phenotypic variation and genetic heterogeneity in Leri-Weill syndrome
20. Replication banding. Current protocols in human genetics
21. Presence of Y chromosome sequences and their effect on the phenotype of six patients with Y chromosome anomalies
22. Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis
23. Eleventh International Workshop on Human Gene Mapping
24. X/Y translocations resulting from recombination between homologous sequences on Xp and Yq
25. Del (X)(p21.2) in a mother and two daughters with variable ovarian function
26. The role of Yp in sex determination: New evidence from X/Y translocations