Random X inactivation in a girl with a balanced t(X;9) and an abnormal phenotype

American Journal of Medical Genetics

Volumn 77, Issue 5, 1998, Pages 401-404

  Wolff, Daynna J ^a,c   Schwartz, Stuart ^a   Montgomery, Thomas ^b   Zackowski, Joleen L ^b  

^a UNIVERSITY HOSPITALS OF CLEVELAND   (United States)

^b EASTERN VIRGINIA MEDICAL SCHOOL   (United States)

^c Center for Medical Genetics   (United States)

Author keywords

Duplication; Translocation; X chromosome; X inactivation

Indexed keywords

ANDROGEN; ANDROGEN RECEPTOR;

ARTICLE; CASE REPORT; CHROMOSOME ANALYSIS; CHROMOSOME TRANSLOCATION; DISOMY; FEMALE; HUMAN; KARYOTYPE; LYMPHOCYTE; MENTAL DEFICIENCY; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; X CHROMOSOME; X CHROMOSOME INACTIVATION;

CHILD; CHROMOSOME BANDING; CHROMOSOMES, HUMAN, PAIR 9; DOSAGE COMPENSATION, GENETIC; FEMALE; HUMANS; KARYOTYPING; MALE; PHENOTYPE; TRANSLOCATION, GENETIC; X CHROMOSOME;

MAMMALIA;

EID: 0032486141     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19980605)77:5<401::AID-AJMG9>3.0.CO;2-P     Document Type: Article

References (15)

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. Benn PA, Perle MA (1986): Chromosome staining and banding techniques. In Rooney DE, Czepulkowski BH (eds): "Human Cytogenetics, a Practical Approach." Oxford: IRL Press, pp 73-77.
3. Carrel L, Willard HF (1996): An assay for X inactivation based on differential methylation at the Fragile X locus, FMR1. Am J Med Genet 64:27-30.
4. Disteche CM, Eicher EM, Latt SA (1979): Late replication in an X-autosome translocation in the mouse: Correlation with genetic inactivation and evidence for selective effects during embryogenesis. Proc Natl Acad Sci USA 76:5234-5238.
5. Du Sart D, Kalitsis P, Schmidt M (1992): Noninactivation of a portion of Xq28 in a balanced X-autosome translocation. Am J Med Genet 42: 156-160.
6. Hatchwell E, Robinson D, Crolla JA, Cockwell AE (1996): X inactivation in a female with hypomelanosis of Ito associated with a balanced X;17 translocation: Evidence for functional disomy of Xp. J Med Genet 33: 216-220.
7. Hellkuhl B, de la Chapelle A, Grzeschik K-H (1982): Different patterns of X chromosome inactivity in lymphocytes and fibroblasts of a human balanced Xautosome translocation. Hum Genet 60:126-129.
8. Keitges EA, Palmer CG (1986): Analysis of spreading of inactivation in eight X autosome translocations utilizing the high resolution RBG technique. Hum Genet 72:231-236.
9. Lyon MF (1961): Gene action in the X-chromosome of the mouse (Mus musculus L). Nature 190:372-373.
10. Mattei MG, Mattei JF, Aymé S, Giraud F (1982): X-autosome translocations: Cytogenetic characteristics and their consequences. Hum Genet 61:295-309.
11. Miller AP, Willard HF (1995): Five genes that escape X chromosome inactivation are clustered within 1 Mb in Xp11.21. Am J Hum Genet 57 (suppl):A147.
12. Schmidt M, Du Sart D (1992): Functional disomies of the X chromosome influence the cell selection and hence the X inactivation pattern in females with balanced X-autosome translocations: A review of 122 cases. Am J Med Genet 42:161-169.
13. Wolff DJ, Carrel L, Kelly CL, Willard HF, Schwartz S (1996): Correlation of X inactivation pattern with phenotype in females with an abnormal phenotype. Am J Hum Genet 59 (suppl):A99.
14. Zonana J, Roberts SH, Thomas NS, Harper P (1988): Recognition and reanalysis of a cell line from a manifesting female with X linked hypohidrotic ectodermal dysplasia and an X;autosome balanced translocation. J Med Genet 25:383-386.
15. Zuffardi O (1983): Cytogenetics of human X/autosome translocations. In Sandberg AA (ed): "Cytogenetics of the Mammalian X Chromosome, Part B: Basic Mechanisms of X Chromosome Behaviour." New York: Alan R. Liss, pp 193-210.