Cytogenetic and molecular study of a premature male infant with 46,XX derived from ICSI: Case report

Human Reproduction

Volumn 18, Issue 11, 2003, Pages 2298-2301

  Ma, Sai ^a   Tang, S S ^a   Yuen, B Ho ^a   Bruyere, H ^a   Penaherrera M ^a   Robinson, W P ^a  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

Author keywords

46,XX male; Comparative genomic hybridization; Fluorescence in situ hybridization; ICSI; SRY gene

Indexed keywords

AMNION; ARTICLE; AZOOSPERMIA; CASE REPORT; CENTROMERE; CHORION VILLUS; CHROMOSOME BANDING PATTERN; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; CORRELATION ANALYSIS; CRYOPRESERVATION; CYTOGENETICS; DELIVERY; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; INFANT; INFERTILITY; INTRACYTOPLASMIC SPERM INJECTION; KARYOTYPE 46,XX; KARYOTYPE 46,XY; KARYOTYPING; MALE; MOLECULAR GENETICS; MOLECULAR PROBE; PHENOTYPE; PLACENTA; POLYMERASE CHAIN REACTION; PREGNANCY; PREMATURITY; SEMEN ANALYSIS; SEX CHROMOSOME MOSAICISM; SRY GENE; STROMA; SURVIVAL; TESTICULAR SPERM EXTRACTION; TROPHOBLAST; UMBILICAL CORD BLOOD; X CHROMOSOME; X CHROMOSOME INACTIVATION; Y CHROMOSOME;

EID: 0242522155     PISSN: 02681161     EISSN: None     Source Type: Journal    
DOI: 10.1093/humrep/deg462     Document Type: Article

References (28)

1. Abbas, N.E., Toublanc, J.E., Boucekkine, C. et al. (1990) A possible common mechanism of "Y-negative" human XX males and XX true hermaphrodites. Hum. Genet., 84, 356-360.
2. Abusheikha, N., Lass, L. and Brinsden, P. (2001) XX males without SRY gene and with infertility. Hum. Reprod., 16, 717-718.
3. Aboulghar, H., Aboulghar, M., Mansour, R., Serour, G., Amin Y. and Al-Inany H. (2001) A prospective controlled study of karyotyping for 430 consecutive babies conceived through intracytoplasmic sperm injection. Fertil. Steril., 76, 249-253.
4. Bonduelle, M., Van Assche, E., Joris, H., Keymolen, K., Devroey, P.,Van Steirteghem A. and Liebaers I. (2002) Prenatal testing in ICSI pregnancies: Incidence of chromosomal anomalies in 1586 karyotypes and relation to sperm parameters. Hum. Reprod., 17, 2600-2614.
5. Boucekkine, C., Toublanct, J.E., Abbast, N., Chaabouni, S., Ouahid, S., Semrouni, M., Jaubert, F., Toublanc, M., McElreavey, K., Vilain, E. and Ellous, M. (1994) Clinical and anatomical spectrum in XX sex reversed patients. Relationship to the presence of Y specific DNA-sequences. Clin. Endocrinol., 40, 733-742.
6. De La Chapelle, A. (1972) Analytic review: Nature and origin of males with XX sex chromosomes. Am. J. Hum. Genet., 24, 71-105.
7. Fechner, P.Y., Smith, K.D., Jabs, E.W., Migeon, C.J., Berkovitz, G.D. (1992) Partial gonadal dysgenesis in a patient with a marker Y chromosome. Am. J. Med. Genet., 42, 807-812.
8. Ferguson-Smith, M.A., Cooke, A., Affara, N.A., Byd, E. and Tolmie, J.J. (1990) Genotype-phenotype correlations in XX males and their bearing on current theories of sex determination. Hum. Genet., 84, 198-202.
9. Kallioniemi, A., Kallioniemi, O.P., Sudar, D., Rutovitz, D., Gray, J.W., Waldman, F. and Pinkel, D. (1992) Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors. Science, 258, 818-821.
10. Kalousek, D.K. and Dill, F.J. (1983) Chromosomal mosaicism confined to the placenta in human conceptions. Science, 221, 665-667.
11. Kolon, T., Ferrer, F.A. and McKenna, P.H. (1998) Clinical and molecular analysis of XX sex reversed patients. J. Urol., 160, 1169-1172.
12. Koopman, P., Gubbay, J., Vivian, N, et al. (1991) Male development of chromosomally female mice transgenic for Sry. Nature, 351, 117-121.
13. Lam, R., Ma, S., Robinson, W.P., Chan, T. and Ho Yuen, H. (2001) Cytogenetic investigation of fetuses and infants conceived through intracytoplasmic sperm injection. Fertil. Steril., 76, 1272-1275.
14. Lau, A.W., Brown, C.J., Penaherrera, M., Langlois, S., Kalousek, D.K. and Robinson, W.P. (1997) Skewed X-chromosomal inactivation is common in fetuses or newborns associated with confined placental mosaicism. Am. J. Hum. Genet., 61, 1353-1361.
15. Lomax, B.L., Kuchinka, B.K., Barrett, I.J. and Kalousek, D.K. (1994) The utilization of interphase cytogenetic analysis for the detection of mosaicism. Hum. Genet., 93, 243-247.
16. Ma, S. and Ho Yuen, B. (2001) Intracytoplasmic sperm injection could minimize the incidence of prematurely condensed human sperm chromosomes (PCC). Fertil. Steril., 75, 1095-1101.
17. Ma, S., Nigro, M.K., Rowe, T., Sanders, B., Allaire, C. and Ho Yuen, B. (2000) Selection of viable sperm from frozen-thawed immotile spermatozoa based on the phenomenon of sperm tail curling in men who underwent testicular biopsy and epididymal sperm aspiration. Fertil. Steril., 74, 172-173.
18. Ma, S., Robinson, W.P., Lam, R. and Ho Yuen, B. (2001) Maternal origin of monosomy 21 derived from intracytoplasmic sperm injection. Hum. Reprod., 16, 1100-1103.
19. Nielsen, J. and Sillesen, I. (1975) Incidence of chromosome aberrations among 11148 newborn children. Hum. Genet., 30, 1-12.
20. Palermo, J. and Joris, H., Devroey, P. and Van Steirteghem, A.C. (1992) Pregnancies after intracytoplasmic sperm injection of single spermatozoon into an oocyte. Lancet, 340, 17-18.
21. Palmer, M.S., Sinclair, A.H., Berta, P., Ellis, N.A., Goodfellow, P.N., Abbas, N.A. and Fellous, M. (1989) Genetic evidence that ZFY is not the testis-determining factor. Nature, 342, 937-939.
22. Peñaherrera, M., Ma, S., Ho Yuen, B., Brown, C.J. and Robinson, W.P. (2003) X-chromosome inactivation (XCI) patterns in placental tissues of a paternally derived bal t(X;20) case. Am. J. Med. Genet., 118A, 29-34.
23. Sinclair, A.H., Berta, P., Palmer, M.S. et al. (1990) A gene from the human sex determining region encodes a protein with homology to a conserved DNA binding motif. Nature, 346, 240-243.
24. Tesarik, J. and Mendoza, C. (1996) Genomic imprinting abnormalities: A new potential risk of assisted reproduction. Mol. Hum. Reprod., 2, 295-298.
25. Vernole, P., Terrinoni, A., Didona, B. et al. (2000) An SRY-negative XX male with Huriez syndrome. Clin. Genet., 57, 61-67.
26. Vilain, E., McElreavey, K., Jaubert, F., Raymond, J.P., Richaud, F. and Follous, M. (1992) Familial case with sequence variant in the testis-determining region associated with two sex phenotypes. Am. J. Hum. Genet., 50, 1008-1011.
27. Wennerholm, U.B., Bergh, C., Hamberger, L., Lundin, K., Nisson, L., Wikland, M. and Källén, B. (2000) Incidence of congenital malformations in children born after ICSI. Hum. Reprod., 15, 944-948.
28. Zenteno, J.C., Lopez, M., Vera, C. et al. (1997) Two SRY-negative XX male brothers without genital ambiguity. Hum. Genet., 100, 606-610.