Detailed clinical and molecular study of 20 females with Xq deletions with special reference to menstruation and fertility

European Journal of Medical Genetics

Volumn 56, Issue 1, 2013, Pages 1-6

  Mercer, Catherine L ^a   Lachlan, Katherine ^a   Karcanias, Alexandra ^b   Affara, Nabeel ^b   Huang, Shuwen ^c   Jacobs, Patricia A ^c,d   Thomas, N Simon ^c,d  

^a PRINCESS ANNE HOSPITAL   (United Kingdom)

^b UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^c SALISBURY DISTRICT HOSPITAL   (United Kingdom)

^d UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

Author keywords

Array CGH; Premature ovarian failure; X inactivation; X; autosome translocation; Xq deletion

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHROMOSOME DELETION X; CHROMOSOME DELETION XQ; CHROMOSOME MAP; CHROMOSOME TRANSLOCATION X; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; FEMALE INFERTILITY; HUMAN; MENSTRUATION DISORDER; ONSET AGE; OVARY FUNCTION; OVARY INSUFFICIENCY; PHENOTYPE; PRIMARY AMENORRHEA;

CHROMOSOME ABERRATIONS; CHROMOSOME DELETION; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, X; FEMALE; FERTILITY; HUMANS; MENOPAUSE; MENSTRUATION; PHENOTYPE; PUBERTY; X CHROMOSOME INACTIVATION;

EID: 84871689338     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2012.08.012     Document Type: Article

References (16)

1. Lachlan K.L., Youings S., Costa T., Jacobs P.A., Thomas N.S. A clinical and molecular study of 26 females with Xp deletions with special emphasis on inherited deletions. Hum. Genet. 2006, 1185:640-651.
2. Toniolo D. X-linked premature ovarian failure: a complex disease. Curr. Opin. Genet. Dev. 2006, 16:293-300.
3. Therman E., Laxova R., Susman B. The critical region on the human Xq. Hum. Genet. 1990, 85:455-461.
4. 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, 216:1477-1483.
5. Rizzolio F., Sala C., Bione S., Villa A., Berti E., Cassetti A., Bulfone A., tribioli C., Toniolo D. Epigenetic control of the critical region for premature ovarian failure on autosomal genes translocated to the X chromosome: a hypothesis. Hum. Genet. 2007, 121:441-450.
6. Yachelevich N., Gittler J., Klugman S., Feldman B., Martin J., Brooks S., Dobkin C., Nolin S. Terminal deletions of the long arm of chromosome X that include the FMR1 Gene in female patients; a case series. Am. J. Med. Genet. 2011, 155A:870-874.
7. Aboura A., Dupas C., Tachdjian G., Portnoï M.F., Bourcigaux N., Dewailly D., Frydman R., Fauser B., Ronci-Chaix N., Donadille B., Bouchard P., Christin-Maitre S. Array comparative genomic hybridization profiling analysis reveals deoxyribonucleic acid copy number variations associated with premature ovarian failure. J. Clin. Endocrinol. Metab. 2009, 94:4540-4546.
8. Dudding T.E., Lawrence O., Winship I., Froyen G., Vandewalle J., Scott R., Shelling A.N. Array comparative genomic hybridization for the detection of submicroscopic copy number variations of the X chromosome in women with premature ovarian failure. Hum. Reprod. 2010, 25:3159-3160.
9. Quilter C.R., Karcanias A.C., Bagga M.R., Duncan S., Murray A., Conway G.S., Sargent C.A., Affara N.A. Analysis of X chromosome genomic DNA sequence copy number variation associated with premature ovarian failure (POF). Hum. Reprod. 2010, 25:2139-2150.
10. Karcanias A.C., Ichimura K., Mitchell M.J., Sargent C.A., Affara N.A. Analysis of sex chromosome abnormalities using X and Y chromosome DNA tiling path arrays. J. Med. Genet. 2007, 44:429-436.
11. Sharp A.J., Robinson D.O., Jacobs P.A. Age- and tissue-specific variation of X chromosome inactivation ratios in normal women. Hum. Genet. 2000, 107:343-349.
12. Sharp A.J., Spotswood H.T., Robinson D.O., Turner B.M., Jacobs P.A. Molecular and cytogenetic analysis of the spreading of X inactivation in X;autosome translocations. Hum. Mol. Genet. 2002, 11:3145-3156.
13. Eggermann T., Meschede D., Schuler H., Palm S., Glaser D., Horsthemke B., Eggermann K., Haverkamp F., Zerres K. Premature ovarian failure associated with a small terminal Xq deletion: narrowing the POF1 region down to Xq27.2/Xq27.3-qter. Clin. Genet. 2005, 675:434-437.
14. Rossetti F., Rizzolio F., Pramparo T., Sala C., Bione S., Bernadi F., Goegan M., Zuffardi O., Toniolo D. A susceptibility gene for premature ovarian failure (POF) maps to proximal Xq28. Eur. J. Hum. Genet. 2004, 12:829-834.
15. Marozzi A., Manfredini A., Tibileth M.G., Furlan D., Villa N., Vegetti W., Crosignani P.G., Ginelli E., Menever R., Dalpra L. Molecular definition of Xq common-deleted region in patients affected by premature ovarian failure. Hum. Genet. 2000, 1074:304-311.
16. Murray A. Premature ovarian failure and the FMR1 gene. Semin. Reprod. Med. 2000, 18:59-66.