A teenager with a t(X;17)(q22;q25) and ovarian failure

Genetic Counseling

Volumn 21, Issue 3, 2010, Pages 269-275

  Martinez Valenzuela M ^a,b   Rivera, H ^a,b   Mundo Ayala, J N ^a,b   Gonzalez Mercado M G ^a,b   Dávalos Rodríguez, Ingrid P ^a,b  

^a CENTRO DE INVESTIGACIÓN BIOMÉDICA DE OCCIDENTE   (Mexico)

^b UNIVERSITY OF GUADALAJARA   (Mexico)

Author keywords

Premature ovarian failure; X chromosome; X; autosome translocation; Xq critical region

Indexed keywords

FOLLITROPIN; LUTEINIZING HORMONE;

ADOLESCENT; ARTICLE; CASE REPORT; CHROMOSOME 17Q; CHROMOSOME TRANSLOCATION X; CHROMOSOME XQ; EPIGENETICS; FEMALE; GENE MUTATION; HUMAN; KARYOTYPE 46,XX; OVARY DEVELOPMENT; PREMATURE OVARIAN FAILURE; SECONDARY AMENORRHEA;

ADOLESCENT; CHROMOSOME ABERRATIONS; CHROMOSOME BANDING; CHROMOSOMES, HUMAN, PAIR 17; CHROMOSOMES, HUMAN, X; DOWN-REGULATION; EPIGENESIS, GENETIC; FEMALE; GENE SILENCING; HETEROZYGOTE DETECTION; HUMANS; HYPOGONADISM; KARYOTYPING; MUTATION; PHENOTYPE; PRIMARY OVARIAN INSUFFICIENCY; SEX CHROMOSOME ABERRATIONS; TRANSLOCATION, GENETIC;

EID: 77957732285     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (22)

1. ALLEN R.C., ZOGHBI H.Y., MOSELEY A.B., ROSENBLATT H.M., BELMONT J.W.: 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., 1992, 51, 1229-1239.
2. DISTECHE C.M., SWISSHELM K., FORBES S., PAGON R.A: X-inactivation patterns in lymphocytes and skin fibroblasts of three cases of X-autosome translocations with abnormal phenotypes. Hum. Genet., 1984, 66, 71-76.
3. HAGEMEIJER A., HOOVERS J., SMIT E.M., BOOTSMA D.: Replication pattern of the X chromosomes in three X/autosomal translocations. Cytogenet. Cell Genet., 1977, 18, 333-348.
4. HATCHWELL E., ROBINSON D., CROLLA J.A., COCKWELL A.E.: X inactivation analysis in a female with hypomelanosis of Ito associated with a balanced X;17 translocation: evidence for functional disomy of Xp. J. Med. Genet., 1996, 33, 216-220.
5. HODGSON S.V., NEVILLE B., JONES R.W., FEAR C., BOBROW M.: Two cases of X/autosome translocation in females with incontinentia pigmenti. Hum. Genet., 1985, 71, 231-234.
6. JAYAKAR P., LEDBETTER D.H., DERAY M., DONAHUE R., LUBS H.: Cerebral gigantism (Sotos syndrome) in a patient with a de novo X;17 translocation. Am. J. Hum. Genet., 1990, 47, A221.
7. KALZ-FÜLLER B., SLEEGERS E., SCHWANITZ G., SCHUBERT R.: Characterisation, phenotypic manifestations and X-inactivation pattern in 14 patients with X-autosome translocations. Clin. Genet., 1999, 55, 362-366.
8. KLEINJAN D.A., VAN HEYNINGEN V.: Long-range control of gene expression: emerging mechanisms and disruption in disease. Am. J. Hum. Genet., 2005, 76, 8-32.
9. MATTEI M.G., MATTEI J.F., AYME S., GIRAUD F.: X-autosome translocations: cytogenetic characteristics and their consequences. Hum. Genet., 1982, 61, 295-309.
10. Online Mendelian Inheritance in Man, OMIM (TM). McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD), January 27, 2010. World Wide Web URL:http://www.ncbi.nim.nih. gov/omim/
11. PALMER C.G., HUBBARD T.W., HENRY G.W., WEAVER D.D.: Failure of X inactivation in the autosomal segment of a X/A translocation. Am. J. Hum. Genet., 1980, 32, 179-187.
12. PERRIN A., DOUET-GUILBERT N., LE BRIS M.J., KEROMNES G., LANGLOIS M.L., BARRIÈRE P., AMICE J., AMICE V., DE BRAEKELEER M., MOREL F.: Segregation of chromosomes in sperm of a t(X;18)(q11;p11.1) carrier inherited from his mother: case report. Hum. Reprod., 2008, 23, 227-230.
13. PORTNOÏ M.F., ABOURA A., TACHDJIAN G., BOUCHARD P., DEWAILLY D., BOURCIGAUX N., FRYDMAN R., REYSS A.C., BRISSET S., CHRISTINMAITRE S.: Molecular cytogenetic studies of Xq critical regions in premature ovarian failure patients. Hum. Reprod., 2006, 21, 2329-2334.
14. RIVERA H., ENRÍQUEZ-GUERRA M.A., ROLÓN A., JIMÉNEZ-SÁINZ M.E., NÚÑEZ-GONZÁLEZ L., CANTÚ J.M:. Whole-arm t(X;17) (Xp17q;Xq17p) and gonadal dysgenesis. A further exception to the critical region hypothesis. Clin. Genet., 1986, 29, 425-428.
15. RIZZOLIO F., BIONE S., SALA C., GOEGAN M., GENTILE M., GREGATO G., ROSSI E., PRAMPARO T., ZUFFARDI O., TONIOLO D.: Chromosomal rearrangements in Xq and premature ovarian failure: mapping of 25 new cases and review of the literature. Hum. Reprod., 2006, 21, 1477-1483.
16. RIZZOLIO F., PRAMPARO T., SALA C., ZUFFARDI O., DESANTIS L., RABELLOTTI E., CALZI F., FUSI F., BELLAZZI R., TONIOLO D:. Epigenetic analysis of the critical region I for premature ovarian failure: demonstration of a highly heterochromatic domain on the long arm of the mammalian X chromosome. J. Med. Genet., 2009, 46, 585-592.
17. SCHLESSINGER D., HERRERA L., CRISPONI L., MUMM S., PERCESEPE A., PELLEGRINI M., PILIA G., FORABOSCO A:. Genes and translocations involved in POF. Am. J Med. Genet., 2002, 111, 328-333.
18. SCHMIDT M., DU SART D: 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., 1992, 42, 161-169.
19. STEICHEN-GERSDORF E., TRAWÖGER R., DUBA H.C., MAYR U., FELBER S., UTERMANN G.: Hypomelanosis of Ito in a girl with plexus papilloma and translocation (X;17). Hum. Genet., 1993, 90, 611-613.
20. THERMAN E., LAXOVA R., SUSMAN B.: The critical region on the human Xq. Hum Genet., 1990, 85, 455-461.
21. WATERS J.J., CAMPBELL P.L., CROCKER A.J., CAMPBELL C.M.: Phenotypic effects of balanced X-autosome translocations in females: a retrospective survey of 104 cases reported from UK laboratories. Hum. Genet., 2001, 108, 318-327.
22. YAMAMOTO Y., ENDO Y., KUROKI Y.: A case of partial trisomy 17 resulting from X-autosomal translocation. J. Med. Genet., 1979, 16, 395-399.