Monozygotic twins with 45,X/46,XY mosaicism discordant for phenotypic sex

American Journal of Medical Genetics

Volumn 75, Issue 1, 1998, Pages 40-44

  Costa, Teresa ^a,c   Lambert, Marie ^b   Teshima, Ikuko ^a   Ray, Peter N ^a   Richer, Claude Lise ^b   Dallaire, Louis ^b  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b UNIVERSITY OF MONTREAL   (Canada)

^c IWK HEALTH CENTRE   (Canada)

Author keywords

Chromosome mosaicism; Discordant; Monozygotic; Sex chromosome abnormality; Twins; Ullrich Turner syndrome

Indexed keywords

ARTICLE; CASE REPORT; FEMALE; HUMAN; HUMAN CELL; KARYOTYPE 45,X; KARYOTYPE 46,XY; LYMPHOCYTE; MALE; MONOZYGOTIC TWINS; NEWBORN; PHENOTYPE; PRIORITY JOURNAL; SEX CHROMOSOME MOSAICISM; SKIN FIBROBLAST; TURNER SYNDROME;

FEMALE; HUMANS; INFANT, NEWBORN; KARYOTYPING; MALE; MOSAICISM; PHENOTYPE; PREGNANCY; SEX CHROMOSOME ABERRATIONS; TURNER SYNDROME; TWINS, MONOZYGOTIC; X CHROMOSOME;

EID: 0031964422     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19980106)75:1<40::AID-AJMG9>3.0.CO;2-U     Document Type: Article

References (27)

1. Arizawa M, Suehara N, Takemura T, Nakayama M (1988): Monozygotic twins discordant for sex. Acta Obst Gynaec Jpn 40:1479-1482.
2. Chang HJ, Clark RD, Bachman H (1990): The Phenotype of 45,X/46,XY mosaicism: An analysis of 92 prenatally diagnosed cases. Am J Hum Genet 46:156-167.
3. Edwards JH, Dent T, Kahn J (1966): Monozygotic twins of different sex. J Med Genet 3:117-123.
4. Fujimoto A, Boelter WD, Sparkes RS, Lin MS, Battersby K (1991): Monozygotic twins of discordant sex both with 45,X/46,X,idic(Y) mosaicism. Am J Med Genet 41:239-245.
5. Gonsoulin W, Copeland KL, Carpenter RJ, Hughes MR, Elder FFB (1990): Fetal blood sampling demonstrating chimerism in monozygotic twins discordant for sex and tissue karyotype (46,XY and 45,X). Prenat Diag 10:25-28.
6. Gourlay WA, McGillivray B, Johnson HW, Crawford R, Pantzar JT, Nielsen WR (1994): Gonadal tumours in disorders of sexual differentiation. Urology 43:537-540.
7. Hall JG (1996): Twins and twinning. Am J Med Genet 61:202-204.
8. Hamerton JL, Canning N, Ray M, Smith S (1975): A cytogenetic survey of 14,069 newborn infants. Clin Genet 8:223-243.
9. Held KR, Kerber S, Kaminsky E, Singh S, Goetz P, Seemanová 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.
10. Horn D, Majewski F, Hildebrandt B, Körner H (1995): Pallister-Killian syndrome: normal karyotype in prenatal chorionic villi, in postnatal lymphocytes, and in slowly growing epidermal cells, but mosaic tetrasomy 12p in skin fibroblasts. J Med Genet 32:69-71.
11. Hsu LY (1989): Prenatal diagnosis of 45,X/46,XY mosaicism: A review and update. Prenat Diag 9:31-48.
12. Hsu LY (1994): Phenotype/karyotype correlations of Y chromosome aneuploidy with emphasis on structural aberrations in postnatally diagnosed cases. Am J Med Genet 53:108-140.
13. Hughesdon PE, Kumarasamy T (1970): Mixed germ cell tumours (gonadoblastomas) in normal and dysgenetic gonads: Case report and review. Virchow Arch Path Anat 349:258-280.
14. Karp L, Bryant JI, Tagatz G, Giblett E, Fialkow PJ (1975): The occurrence of gonadal dysgenesis in association with monozygotic twinning. J Med Genet 12:70-78.
15. Kingston HM, Umberto N, Haslam J, Andrews T (1993): 46,XY/47,XY, + 17p + Mosaicism in aminocytes associated with fetal abnormalities despite normal fetal blood karyotype. Prenat Diag 13:637-642.
16. Kocova M, Siegel SF, Wenger SL, Lee PA, Trucco M (1993): Detection of Y chromosome sequences in Turner's syndrome by Southern blot analysis of amplified DNA. Lancet 342:140-143.
17. Lejeune J, Aurias A (1976): Les monozygotes hétérocaryotes. Acta Genet Med Gemellol (Roma) 25:50-52.
18. Machin GA (1996): Some causes of genotypic and phenotype discordance in monozygotic twin pairs. Am J Med Genet 61:216-228.
19. Machin G, Still K, Lalani T (1996): Correlations of placental vascular anatomy and clinical outcomes in 69 monochorionic twin pregnancies. Am J Med Genet 61:229-236.
20. Perlman EJ, Stetten G, Tuck-Muller CM, Farber RA, Neuman WL, Blakemore KJ, Hutchins GM (1990): Sexual discordance in monozygotic twins. Am J Med Genet 37:551-557.
21. Reindollar RH, Byrd JR, Hahn DH, Haseltine FP, McDonough PG (1987): A cytogenetic and endocrinologic study of a set of monozygotic isokaryotic 45,X/46,XY twins discordant for phenotypic sex: Mosaicism versus chimerism. Fertil Steril 47:626-633.
22. Rosenberg C, Mustacchi Z, Braz A, Arnhold IJP, Chu TH, Carnevale J, Frota-Pessoa O (1984): Testicular regression in a patient with virilized femal phenotype. Am J Med Genet 19:183-188.
23. Schmidt R, Sobel EH, Nitowsky HM, Dar H, Allen FH (1976): Monozygotic twins discordant for sex. J Med Genet 13:64-79.
24. Talerman A, Delemarre FJM (1975): Gonadoblastoma associated with embryonal carcinoma in an anatomically normal man. J Urology 113:355-359.
25. Troche V, Hernandez E (1986): Neoplasia arising in dysgenetic gonads. Obstet Gynecol Survey 41:74-78.
26. Turpin R, Lejeune J, Lafourcade J, Chigot P-L, Salmon C (1961): Présomption de monozygotisme en dépit d'un dimorphisme sexuel: Sujet masculin XY et sujet neutre haplo X. CR Acad Sci (Paris) 252:2946.
27. Vassart G, George M, Monsieur R, Brocas H, Lequarre AS, Chistophe D (1987): A sequence in M13 phage detects hypervariable minisatellites in human and animal DNA. Science 235:683-684.