Lack of meiotic crossovers during oogenesis in an apparent 4-5,X Ullrich-Turner syndrome patient with three children

American Journal of Medical Genetics

Volumn 140 A, Issue 10, 2006, Pages 1092-1097

  Houge, Gunnar ^a   Bonaan, Helge ^a   Lybæk, Helle ^a   Ness, Gro O ^a   Juliusson, Petor B ^a  

^a HAUKELAND UNIVERSITY HOSPITAL   (Norway)

Author keywords

Crossovers; Meiosis; Mosaicism; Oogenesis; Ullrich Turner syndrome

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CELL CULTURE; CHROMOSOME DELETION; CHROMOSOME DELETION X; CHROMOSOME PAIRING; CROSSING OVER; DISOMY; FEMALE; FIBROBLAST; HUMAN; HUMAN CELL; KARYOTYPE 45,X; MEIOSIS; OOCYTE; OOCYTE DEVELOPMENT; OVARY FOLLICLE DEVELOPMENT; PACHYTENE; PRIORITY JOURNAL; SKIN BIOPSY; TURNER SYNDROME;

CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, X; CROSSING OVER, GENETIC; FAMILY HEALTH; FEMALE; FERTILITY; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; MEIOSIS; MIDDLE AGED; MODELS, GENETIC; MOSAICISM; OOGENESIS; PEDIGREE; SEX CHROMOSOME ABERRATIONS; TURNER SYNDROME;

EID: 33646242247     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31204     Document Type: Article

References (20)

1. Barlow AL, Tease C, Hultén MA. 2002. Meiotic chromosome pairing in fetal oocytes of trisomy 21 human females. Cytogenet Genome Res 96:45-51.
2. Birkebaek NH, Cruger D, Hansen J, Nielsen J, Bruun-Petersen G. 2002. Fertility and pregnancy outcome in Danish women with Turner syndrome. Clin Genet 61:35-39.
3. Cools M, Rooman RP, Wauters J, Jacqemyn Y, Du Caju MV. 2004. A nonmosaic 45,X karyotype in a mother with Turner's syndrome and in her daughter. Fertil Steril 82:923-925.
4. Fernandez-Garcia R, Garcia-Doval S, Costoya S, Pasaro E. 2000. Analysis of sex chromosome aneuploidy in 41 patients with Turner syndrome: A study of 'hidden' mosaicism. Clin Genet 58:201-208.
5. Gardner RJM, Sutherland GR. 2004. In Motulsky AG, Bobrow M, Harper PS, Scriver C, Epstein CJ, Hall JG, editors. Chromosome abnormalities and genetic couseling. New York: Oxford University Press.
6. Hassold T, Arnovitz K, Jacobs PA, May K, Robinson D. 1990. The parental origin of the missing or additional chromosome in 45,X and 47,XXX females. Birth Defects Orig Artic Ser 26:297-304.
7. Held KR, Kerber S, Kaminsky E, Singh S, Goetz P, Seemanova E, Goedde HW. 1992. Mosaicism in 45,X Turner syndrome: Does survival in early pregnancy depend on the presence of two sex chromosomes? Hum Genet 88:288-294.
8. Jacobs P, Dalton P, James R, Mosse K, Power M, Robinson D, Skuse D. 1997. Turner syndrome: A cytogenetic and molecular study. Ann Hum Genet 61:471-483.
9. LeMaire-Adkins R, Hunt PA. 2000. Nonrandom segregation of the mouse univalent X chromosome: Evidence of spindle-mediated meiotic drive. Genetics 156:775-783.
10. Magee AC, Nevin NC, Armstrong MJ, McGibbon D, Nevin J. 1998. Ullrich-Turner syndrome: Seven pregnancies in an apparent 45,X woman. Am J Med Genet 75:1-3.
11. Palka G, Calabrese G, Stuppia L, Guanciali Franchi P, Morizio E, Peila R, Antonucci A. 1994. A woman with an apparent non-mosaic 45,X delivered a 46,X,der(X) liveborn female. Clin Genet 45:93-96.
12. Pasquino AM, Passeri F, Pucarelli I, Segni M, Municchi G. 1997. Spontaneous pubertal development in Turner's syndrome. Italian Study Group for Turner's Syndrome. J Clin Endocrinol Metab 82:1810-1813.
13. Philip J, Sele V. 1976. 45,XO Turner's syndrome without evidence of mosaicism in a patient with two pregnancies. Acta Obstet Gynecol Scand 55:283-286.
14. Soyke A, Stumm M, Krebs P, Kloos DU, Wieacker P, Mohnike K, Eisner J. 1998. Familial occurrence of a del(Xp-) chromosome: Pitfall in karyotype/phenotype correlation. Am J Med Genet 80:436-438.
15. Swapp GH, Johnston AW, Watt JL, Couzin DA, Stephen GS. 1989. A fertile woman with non-mosaic Turner's syndrome. Case report and review of the literature. Br J Obstet Gynaecol 96:876-880.
16. Tease C, Hultén MA. 2004. Inter-sex variation in synaptonemal complex lengths largely determine the different recombination rates in male and female germ cells. Cytogenet Genome Res 107:208-215.
17. Turner JM, Mahadevaiah SK, Fernandez-Capetillo O, Nussenzweig A, Xu X, Deng CX, Burgoyne PS. 2005. Silencing of unsynapsed meiotic chromosomes in the mouse. Nat Genet 37:41-47.
18. Varela M, Shapira E, Hyman DB. 1991. Ullrich-Turner syndrome in mother and daughter: Prenatal diagnosis of a 46,X,del (X)(p21) offspring from a 45,X mother with low-level mosaicism for the del(X)(p21) in one ovary. Am J Med Genet 39:411-412.
19. Wray HL, Freeman MV, Ming PM. 1981. Pregnancy in the Turner syndrome with only 45,X chromosomal constitution. Fertil Steril 35:509-514.
20. Zinn AR, Ouyang B, Ross JL, Varma S, Bourgeois M, Tonk V. 1997. Del (X)(p21.2) in a mother and two daughters with variable ovarian function. Clin Genet 52:235-239.