Familial Turner syndrome with an X;Y translocation mosaicism: Implications for genetic counseling

European Journal of Medical Genetics

Volumn 55, Issue 11, 2012, Pages 635-640

  Portnoï, Marie France ^a   Chantot Bastaraud, Sandra ^a   Christin Maitre, Sophie ^b   Carbonne, Bruno ^a   Beaujard, Marie Paule ^a   Keren, Boris ^c   Lévy, Jonathan ^a   Dommergues, Marc ^c   Cabrol, Sylvie ^a   Hyon, Capucine ^a   Siffroi, Jean Pierre ^a  

^a ARMAND TROUSSEAU HOSPITAL   (France)

^b HÔPITAL SAINT ANTOINE   (France)

^c ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

Author keywords

Pregnancy; SNP array; Turner syndrome; X; Y translocation

Indexed keywords

ESTROGEN;

ADULT; AORTA COARCTATION; ARTICLE; BODY HEIGHT; CELL LINE; CHROMOSOME ANALYSIS; CHROMOSOME TRANSLOCATION X; CHROMOSOME TRANSLOCATION Y; CHROMOSOME XP; CHROMOSOME YP; CYTOGENETICS; DISEASE SEVERITY; FAMILIAL DISEASE; FEMALE; FERTILITY; GENE TRANSLOCATION; GENETIC COUNSELING; GONADECTOMY; GROWTH RETARDATION; HUMAN; HUMAN CELL; INTRAUTERINE GROWTH RETARDATION; KARYOTYPING; MENARCHE; MONOSOMY; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; PARTIAL TRISOMY; PHYSICAL EXAMINATION; PREGNANCY; PRENATAL DIAGNOSIS; PUBERTY; RADIOCARDIOGRAPHY; SHORT STATURE; SINGLE NUCLEOTIDE POLYMORPHISM; TURNER SYNDROME;

ADULT; CHROMOSOMES, HUMAN, X; CHROMOSOMES, HUMAN, Y; FEMALE; GENETIC COUNSELING; HUMANS; INFANT, NEWBORN; MOSAICISM; POLYMORPHISM, SINGLE NUCLEOTIDE; PREGNANCY; TRANSLOCATION, GENETIC; TURNER SYNDROME;

EID: 84867141931     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2012.07.001     Document Type: Article

References (25)

1. Jacobs P., Dalton P., James R., Mosse K., Power M., Robinson D., Skuse D. Turner syndrome: a cytogenetic and molecular study. Ann. Hum. Genet. 1997, 61:471-483.
2. Robinson D.O., Dalton P., Jacobs P.A., Mosse K., Power M.M., Skuse D.H., Crolla J.A. A molecular and FISH analysis of structurally abnormal Y chromosomes in patients with Turner syndrome. J. Med. Genet. 1999, 36:279-284.
3. Gravholt C.H., Fedder J., Naeraa R.W., Muller J. Occurrence of gonadoblastoma in females with Turner syndrome and Y chromosome material: a population study. J. Clin. Endocrinol. Metab. 2000, 85:3199-3202.
4. Mazzanti L., Cicognani A., Baldazzi L., Bergamaschi R., Scarano E., Strocchi S., Nicoletti A., Mencarelli F., Pittalis M., Forabosco A., Cacciari E. Gonadoblastoma in Turner syndrome and Y-chromosome-derived material. Am. J. Med. Genet. A 2005, 135:150-154.
5. Bondy C.A. Turner's syndrome and X chromosome-based differences in disease susceptibility. Gend. Med. 2006, 3:18-30.
6. Sybert V.P., McCauley E. Turner's syndrome. N. Engl. J. Med. 2004, 351:1227-1238.
7. Bryman I., Sylven L., Berntorp K., Innala E., Bergstrom I., Hanson C., Oxholm M., Landin-Wilhelmsen K. Pregnancy rate and outcome in Swedish women with Turner syndrome. Fertil. Steril. 2011, 95:2507-2510.
8. Hagman A., Kallen K., Barrenas M.L., Landin-Wilhelmsen K., Hanson C., Bryman I., Wennerholm U.B. Obstetric outcomes in women with Turner karyotype. J. Clin. Endocrinol. Metab. 2011, 96:3475-3482.
9. Lin A.E., Lippe B., Rosenfeld R.G. Further delineation of aortic dilation, dissection, and rupture in patients with Turner syndrome. Pediatrics 1998, 102:e12.
10. Bukvic N., Delli Carri N.V., Di Cosola M.L., Pustorinon G., Cesarano C., Chetta M., Santacroce R., Sarno M., Sessa F., Longo V., Novelli A., Gentile M., Margaglione M. Familial X;Y translocation with distinct phenotypic consequences: characterization using FISH and array CGH. Am. J. Med. Genet. Part A 2010, 152A:1730-1734.
11. 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, 118:640-651.
12. Baralle D., Willatt L.R., Shears D.J. Léri-Weill syndrome associated with a pseudodicentric X;Y translocation chromosome and skewed X-inactivation: implications for genetic counselling. Am. J. Med. Genet. 2000, 95(4):391-395.
13. Lau Y.F. Gonadoblastoma, testicular and prostate cancers, and the TSPY gene. Am. J. Hum. Genet. 1999, 64:921-927.
14. Hadnott T.N., Gould H.N., Gharib A.M., Bondy C.A. Outcomes of spontaneous and assisted pregnancies in Turner syndrome: the U.S. National Institutes of Health experience. Fertil. Steril. 2011, 95:2251-2256.
15. Magee A.C., Nevin N.C., Armstrong M.J., McGibbon D., Nevin J. Ullrich-Turner syndrome: seven pregnancies in an apparent 45, X woman. Am. J. Med. Genet. 1998, 75(1):1-3.
16. Mortensen K.H., Rohde M.D., Uldbjerg N., Gravholt C.H. Repeated spontaneous pregnancies in 45, X Turner syndrome. Obstet. Gynecol. 2010, 115:446-449.
17. Landin-Wilhelmsen K., Bryman I., Hanson C., Hanson L. Spontaneous pregnancies in a Turner syndrome woman with Y-chromosome mosaicism. J. Assist. Reprod. Genet. 2004, 21:229-230.
18. Sybert V.P. Cardiovascular malformations and complications in Turner syndrome. Pediatrics 1998, 101:E11.
19. Chevalier N., Letur H., Lelannou D., Ohl J., Cornet D., Chalas-Boissonnas C., Frydman R., Catteau-Jonard S., Greck-Chassain T., Papaxanthos-Roche A., Dulucq M.C., Couet M.L., Cedrin-Durnerin I., Pouly J.L., Fenichel P., French Study Group for Oocyte Donation Materno-fetal cardiovascular complications in Turner syndrome after oocyte donation: insufficient prepregnancy screening and pregnancy follow-up are associated with poor outcome. J. Clin. Endocrinol. Metab. 2011, 96:E260-E267.
20. Practice Committee of American Society For Reproductive Medicine Increased maternal cardiovascular mortality associated with pregnancy in women with Turner syndrome. Fertil. Steril. 2012, 97(2):282-284.
21. Tarani L., Lampariello S., Raguso G., Colloridi F., Pucarelli I., Pasquino A.M., et al. Pregnancy in patients with Turner's syndrome: six new cases and review of literature. Gynecol. Endocrinol. 1998, 12:83-87.
22. Blumenthal A.L., Allanson J.E. Turner syndrome in a mother and daughter: r(X) and fertility. Clin. Genet. 1997, 52:187-191.
23. Zinn A.R., Ouyang B., Ross J.L., Varma S., Bourgeois M., Tonk V. Del (X)(p21.2) in a mother and two daughters with variable ovarian function. Clin. Genet. 1997, 52:235-239.
24. Ogata T., Muroya K., Matsuo N., Shinohara O., Yorifuji T., Nishi Y., Hasegawa Y., Horikawa R., Tachibana K. Turner syndrome and Xp deletions: clinical and molecular studies in 47 patients. J. Clin. Endocrinol. Metab. 2001, 86(11):5498-5508.
25. Tachdjian G., Perreaux F., Aboura A., Chevalier P., Portnoi M.F., Esteva B., Trioche P., Labrune P. Molecular cytogenetic analysis of a Xp21.3-pter deletion in a family with normal and short stature. Clin. Genet. 2002, 61(2):163-165.