Severe phenotypes associated with inactive ring X chromosomes

American Journal of Medical Genetics

Volumn 93, Issue 1, 2000, Pages 52-57

  Migeon, Barbara R ^a,d   Ausems, Margareet ^b   Giltay, Jacques ^b   Hasley Royster, Camille ^a   Kazi, Ethan ^a   Lydon, Thomas J ^a   Engelen, John J M ^e   Raymond, Gerald V ^c  

^a JOHNS HOPKINS UNIVERSITY   (United States)

^b UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^c KENNEDY KRIEGER INSTITUTE   (United States)

^d JOHNS HOPKINS HOSPITAL   (United States)

^e NONE

Author keywords

Inactive r(X); Mental retardation; Parental origin of ring X chromosomes; Ring X chromosome; Severe phenotype; Turner syndrome; XIST

Indexed keywords

ANDROGEN RECEPTOR;

ADOLESCENT; ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; DIAGNOSTIC PROCEDURE; DISOMY; FEMALE; FIBROBLAST; GENETIC ANALYSIS; HUMAN; MENTAL RETARDATION MALFORMATION SYNDROME; PHENOTYPE; PRIORITY JOURNAL; RING CHROMOSOME; TURNER SYNDROME; X CHROMOSOME ABERRATION;

EID: 0034601124     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/1096-8628(20000703)93:1<52::AID-AJMG9>3.0.CO;2-9     Document Type: Article

References (17)

1. Allen RC, Zoghbi HY, Moseley AB, Rosenblatt HM, Belmont JW. 1992. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. Am J Hum Genet 51:1229-1239.
2. Dennis NR, Collins AL, Crolla JA, Cockwell AE, Fisher AM, Jacobs PA. 1993. Three patients with ring chromosomes and a severe phenotype. J Med Genet 30:482-486.
3. Engelen JJM, Albrechts JCM, Hamers AHJ, Geraedts JPM. 1998. A simple and efficient method for microdissection and microFISH. J Med Genet 35:265-268.
4. Jani M, Torchia BS, Pai GS, Migeon BR. 1995. Molecular characterization of tiny ring X chromosomes from females with functional X chromosome disomy and lack of cis X inactivation. Genomics 27:182-188.
5. Kushnick T, Irons TG, Wiley JE, Gettis EA, Rao KW, Bowyer S. 1987. 45X/46/Xr(X) with syndactyly and severe mental retardation. Am J Med Genet 28:567-574.
6. Lafreniere RG, Brown CJ, Rider S, Chelly J, Taillon-Miller P, Chinault AC, Monaco AP, Willard HF. 1993. 2.6 Mb YAC contig of the human X inactivation center region in Xq13:physical linkage of the RPS4X, PHKA1, XIST and DXS128E genes. Hum Mol Genet 2:1105-1115.
7. Migeon BR, Wolf SF, Axelman J, Kaslow DC, Schmidt M. 1985. Incomplete X dosage compensation in chorionic villi of human placenta. Proc Natl Acad Sci USA 82:3390-3394.
8. Migeon BR, Luo S, Stasiowski BA, Jani M, Axelman J, Van Dyke DL, Weiss L, Jacobs P, Yang-Feng T, Wiley J. 1993. Deficient transcription of XIST from tiny ring X chromosomes in females with severe phenotypes. Proc Natl Acad Sci USA 90:12025-12029.
9. Migeon BR, Luo S, Jani M, Jeppesen P. 1994. The severe phenotype of females with tiny ring X chromosomes is associated with inability of these chromosomes to undergo X inactivation. Am J Hum Genet 55: 497-504.
10. Migeon BR, Kazi E, Haisley-Royster C, Hu J, Reeves RH, Call L, Lawler A, Moore CS, Morrison H, Jeppesen P. 1999. Human X inactivation center induces random X inactivation in male transgenic mice. Genomics 59: 113-121.
11. Sybert VP. 1995. The adult patient with Turner syndrome. Turner Syndrome in a life span perspective: research and clinical aspects. Gothenburg, Sweden: Elsevier Science.
12. Van Dyke DL, Witkor A, Roberson JR, Weiss L. 1991. Mental retardation in Turner syndrome. J Pediatr 118:415-417.
13. Van Dyke DL, Witkor A, Palmer CG, Miller DA, Witt M, Ramesh M, Babu V, Worsham M, Roberson J, Weiss L. 1992. Ullrich-Turner syndrome with a small ring chromosome and presence of mental retardation. Am J Med Genet 43:996-1005.
14. Walker CL, Cargile CB, Floy K, Delannoy M, Migeon BR. 1991. The Barr body is a looped X chromosome with telomere association. Proc Natl Acad Sci USA 88:6191-6195.
15. Wolff DJ, Brown CJ, Schwartz S, Duncan AMV, Surti U, Willard HF. 1994. Small marker X chromosomes lack the X inactivation center: implications for karyotype/phenotype correlations. Am J Hum Genet 55:87-95.
16. Yorifuji T, Muroi J, Uematsu A, Sasaki H, Momoi T, Yamanaka C, Furusho K. 1998. Uniparental and functional X disomy in Turner syndrome patients with unexplained mental retardation and X derived marker chromosomes. J Med Genet 35:539-544.
17. Zenger-Hain JL, Witkor A, Goldman J, Van Dyke DL, Weiss L. 1993. X-inactivation pattern in an Ullrich-Turner syndrome patient with a small ring X and normal intelligence. Am J Med Genet 47:490-493.