Sperm segregation patterns by fluorescence in situ hybridization studies of a 46,XY,t(2;6) heterozygote giving rise to a rare triploid product of conception with a 69,XXY,t(2;6)(p12;q24)der(6)t(2;6)(p12;q24)pat karyotype

American Journal of Medical Genetics

Volumn 117 A, Issue 2, 2003, Pages 172-176

  Lim, A S T ^a   Lim, T H ^a   Kee, S K ^a   Chieng, R ^a   Tay, S K ^a  

^a SINGAPORE GENERAL HOSPITAL   (Singapore)

Author keywords

Fluorescence in situ hybridization; Partial mole; Sperm; Triploid

Indexed keywords

ARTICLE; CHROMOSOME 6; CHROMOSOME REARRANGEMENT; CHROMOSOME TRANSLOCATION; CYTOGENETICS; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; HUMAN TISSUE; HYDATIDIFORM MOLE; KARYOTYPE; PLACENTA; PRIORITY JOURNAL; SEMEN ANALYSIS; SPERM; SPONTANEOUS ABORTION; TRIPLOIDY; ANEUPLOIDY; CHROMOSOME 2; CHROMOSOME BANDING PATTERN; CHROMOSOME SEGREGATION; EMBRYO; FEMALE; GENE TRANSLOCATION; GENETICS; HETEROZYGOTE; KARYOTYPING; MALE; METABOLISM; PATHOLOGY; PREGNANCY; SPERMATOZOON; UTERUS CANCER;

ANEUPLOIDY; CHROMOSOME BANDING; CHROMOSOME SEGREGATION; CHROMOSOMES, HUMAN, PAIR 2; CHROMOSOMES, HUMAN, PAIR 6; EMBRYO; FEMALE; HETEROZYGOTE; HUMANS; HYDATIDIFORM MOLE; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; MALE; PREGNANCY; SPERMATOZOA; TRANSLOCATION, GENETIC; UTERINE NEOPLASMS;

EID: 0041319066     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.10893     Document Type: Article

References (26)

1. Blanco J, Egozcue J, Clusellas N, Vidal F. 1998. FISH on sperm heads allows the analysis of chromosome segregation and inter-chromosomal effects in carriers of structural rearrangements: results in a translocation carrier, t(5;8)(q33;q13). Cytogenet Cell Genet 83:275-280.
2. Chew SH, Perlman EJ, Wiliams R, Kurman RJ, Ronnett BM. 2000. Morphology and DNA content analysis in the evaluation of first trimester placentas for partial hydatidiform mole (PHM). Hum Pathol 31:914-924.
3. Estop AM, Van Kirk V, Cieply K. 1995. Segregation analysis of four translocations, t(2;18),t(3;15),t(5;7), and t(10;12), by sperm chromosome studies and a review of the literature. Cytogenet Cell Genet 70:80-87.
4. Estop AM, Cieply KM, Wakim A, Feingold E. 1998. Meiotic products of two reciprocal translocations studied by multicolor fluorescence in situ hybridization. Cytogenet Cell Genet 83:193-198.
5. Gardner RJM, Sutherland GR. 1996. Chromosome abnormalities and genetic counseling. 2nd ed. New York: Oxford University Press, 478 p.
6. Goldman ASH, Hultén MA. 1993a. Analysis of chiasma frequency and the first meiotic segregation in a human male reciprocal translocation heterozygote, t(1;11)(p36.3;q13.1), using fluorescence in situ hybridisation. Cytogenet Cell Genet 63:16-23.
7. Goldman ASH, Hultén MA. 1993b. Meiotic analysis by FISH of a human male 46,XY,t(15;20)(q11.2;q11.2) translocation heterozygote: quadrivalent configuration, orientation and first meiotic segregation. Chromosoma 102:102-111.
8. Griffin DK, Abruzzo MA, Millie EA, Sheean LA, Feingold E, Sherman SL, Hassold TJ. 1995. Non-disjunction in human sperm: evidence for an effect of increasing paternal age. Hum Mol Genet 12:2227-2232.
9. Honda H, Miharu N, Ohashi Y, Hara T, Ohama K. 1999. Analysis of segregation and aneuploidy in two reciprocal translocation carriers, t(3;9)(q26.2;q32) and t(3;9)(p25;q32), by triple-color fluorescence in situ hybridization. Hum Genet 105:428-436.
10. Jauniaux E, Bersinger NA, Gulbis B, Meuris S. 1999. The contribution of maternal serum markers in the early prenatal diagnosis of molar pregnancies. Hum Reprod 14:842-846.
11. Lee JD, Kamiguchi Y, Yanagimachi R. 1996. Analysis of chromosome constitution of human spermatozoa with normal and aberrant head morphologies after injection into mouse oocytes. Hum Reprod 11:1942-1946.
12. Lim AST, Fong Y, Yu SL. 1999. Estimates of sperm sex chromosome disordy and diploidy rates in a 47,XXY/46,XY mosaic Klinefelter patient. Hum Genet 104:405-409.
13. Lindholm H, Flam F. 1999. The diagnosis of molar pregnancy by sonography and gross morphology. Acta Obstet Gynecol Scand 78:6-9.
14. Martin RH, Spriggs EL. 1995. Sperm chromosome complements in a man heterozygous for a reciprocal translocation 46,XY,t(9;13)(q21.1;q21.2) and a review of the literature. Clin Genet 47:42-46.
15. Munné S, Fung J, Cassel MJ, Marquez C, Weir HUG. 1998. Preimplantation genetic analysis of translocations: case specific probes for interphase cell analysis. Hum Genet 102:663-674.
16. Ogawa S, Araki S, Araki Y, Ohno M, Sato I. 2000. Chromosome analysis of human spermatozoa from an oligoasthenozoospermic carrier for a 13;14 Robertsonian translocation by their injection into mouse oocytes. Hum Reprod 14:1136-1139.
17. Pellestor F, Girardet A, Coignet L, Andréo B, Lefort G, Charliue JP. 1997. Cytogenetic analysis of meiotic segregation in sperm from two males heterozygous for reciprocal translocations using PRINS and humster techniques. Cytogenet Cell Genet 78:202-208.
18. Plachot M, Mandelbaum J, Junca AM, Grouchy J de, Salat-Baroux J, Cohen J. 1989. Cytogenetic analysis and developmental capacity of normal and abnormal embryos after IVF. Hum Reprod 4 (Suppl):99-103.
19. Redline RW, Hassold T, Zaragoza MV. 1998. Prevalence of the partial molar phenotype in triploidy of maternal and paternal origin. Hum Pathol 29:505-511.
20. Robbins W, Baulch J, Moore D, Weier H, Blakey D, Wyrobek A. 1995. Three probe FISH to assess chromosome X, Y and 8 aneuploidy in sperm of 14 men from two healthy groups: evidence for a paternal age effect on sperm aneuploidy. Reprod Fertil Dev 7:799-809.
21. Rochon L, Vekemans MJJ. 1990. Triploidy arising from a first meiotic non-disjunction in a mother carrying a reciprocal translocation. J Med Genet 27:724-726.
22. Seckl MJ, Fisher RA, Salerno G, Rees H, Paradinas FJ, Foskett M, Newlands ES. 2000. Choriocarcinoma and partial hydatidiform moles. Lancet 356:36-39.
23. Van Assche E, Staessen C, Vegetti W, Bonduelle M, Vandervorst M, Van-Steirteghem A, Liebaers I. 1999. Preimplantation genetic diagnosis and sperm analysis by fluorescence in-situ hybridization for the most common reciprocal translocation t(11;22). Mol Hum Reprod 5:682-690.
24. Van Dyke DL, Weiss L, Roberson JR, Babu VR. 1983. The frequency and mutation rate of balanced autosomal rearrangements in man estimated from prenatal genetic studies for advanced maternal age. Am J Hum Genet 35:301-308.
25. Van Hummelen P, Manchester D, Lowe X, Wyrobek AJ. 1997. Meiotic segregation, recombination, and gamete aneuploidy assessed in a t(1;10)(p22.1;q22.3) reciprocal translocation carrier by three- and four-probe multicolor FISH in sperm. Am J Hum Genet 61:651-659.
26. Zaragoza MV, Surti U, Redline RW, Millie E, Chakravarti A, Hassold TJ. 2000. Parental origin and phenotype of triploidy in spontaneous abortions: predominance of diandry and association with the partial hydatidiform mole. Am J Hum Genet 66:1807-1820.