Chromosome segregation in a man heterozygous for a pericentric inversion, inv(9)(p11q13), analyzed by using sperm karyotyping and two-color fluorescence in situ hybridization on sperm nuclei

Human Genetics

Volumn 99, Issue 6, 1997, Pages 761-765

  Colls, P ^a   Blanco, J ^a   Martinez Pasarell O ^a   Vidal, F ^a   Egozcue, J ^a   Marquez C ^a   Guitart, M ^b   Templado, C ^a  

^a UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

^b Laboratori Genetica   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ANEUPLOIDY; ARTICLE; CASE REPORT; CELL FUSION; CHROMOSOME 21; CHROMOSOME 9; CHROMOSOME 9P; CHROMOSOME 9Q; CHROMOSOME SEGREGATION; DISOMY; FLUORESCENCE IN SITU HYBRIDIZATION; HAMSTER; HETEROZYGOTE; HUMAN; KARYOTYPING; MALE; OOCYTE; PERICENTRIC CHROMOSOME INVERSION; PRIORITY JOURNAL; SPERM; STRUCTURAL CHROMOSOME ABERRATION;

ADULT; ANIMALS; CELL NUCLEUS; CHROMOSOMES, HUMAN, PAIR 9; CRICETINAE; HETEROZYGOTE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INVERSION, CHROMOSOME; KARYOTYPING; MALE; SPERMATOZOA;

CRICETINAE;

EID: 0030906676     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050444     Document Type: Article

References (30)

1. Ashley T (1988) G-band position on meiotic synapsis and crossing over. Genetics 118:307-317
2. Balkan W, Burns K, Martin RH (1983) Sperm chromosome analysis of a man heterozygous for a pericentric inversion of chromosome 3. Cytogenet Cell Genet 35:295-297
3. Batanian J. Hultén MA (1987) Electron microscopic investigations of synaptonemal complexes in an infertile human male carrier of a pericentric inversion inv(1)(q32;q42): regular loop formation but defective synapsis including a possible interchromosomal effect. Hum Genet 76:81-86
4. Benet J, Genescà A, Navarro J, Egozcue J, Templado C (1986) G-banding of human sperm chromosomes. Hum Genet 73:181-182
5. Benet J, Navarro J, Genescà A, Egozcue J, Templado C (1991) Chromosome abnormalities in human sperm after albumin or TEST-Yolk capacitation. Hum Reprod 6:369-375
6. Benet J, Genescà A, Navarro J, Egozcue J, Templado C (1992) Cytogenetic studies in motile sperm from normal men. Hum Genet 89:176-180
7. Blanco J, Egozcue J, Vidal F (1996) Incidence of chromosome 21 disomy in human spermatozoa as determined by fluorescence in-situ hybridization. Hum Reprod 11:722-726
8. Bourrouillou G, Colombies P, Dastugue N (1985) Trisomie 21 et l'inversion péricentrique du chromosome 9 dans le caryotype parental. Presse Méd 14:1801
9. Gabriel-Robez O, Ratomponirina C, Rumpler Y, Le Marec B, Luciani JM, Guichaoua MR (1986) Synapsis and synaptic adjustment in an infertile human male heterozygous for a pericentric inversion in chromosome 1. Hum Genet 72:148-152
10. Gagné R, Laberge C, Tanguay R (1973) Aspect cytologique et localisation intranucléaire de l'hétérochromatine constitutive des chromosomes C9 chez l'homme. Chromosoma 41:159-166
11. Guichaoua MR, Gabriel-Robez O, Ratomponirina C, Delafontaine D, Le Marec B, Taillemite JL, Rumpler Y, Luciani JM (1986) Meiotic behaviour of familial pericentric inversions of chromosomes 1 and 9. Ann Génét 29:207-214
12. Jenderny J, Gebauer J, Röhrborn G, Rüger A (1992) Sperm chromosome analysis of a man heterozygous for a pericentric inversion of chromosome 20. Hum Genet 89:117-119
13. Laurie DA, Hultén MA (1985) Further studies on chiasma distribution and interference in the human male. Ann Hum Genet 49:203-214
14. Laurie DA, Palmer RW, Hultén MA (1982) Chiasma derived genetic lengths and recombination fractions: chromosomes 2 and 9. Ann Hum Genet 46:233-244
15. Lejeune J (1963) Autosomal disorders. Pediatrics 32:326-337
16. Martin RH (1983) A detailed method for obtaining preparations of human sperm chromosomes. Cytogenet Cell Genet 35:252-256
17. Martin RH (1991) Cytogenetic analysis of sperm from a man heterozygous for a pericentric inversion, inv(3)(p25q21). Am J Hum Genet 48:856-861
18. Martin RH (1993) Analysis of sperm chromosome complements from a man heterozygous for a pericentric inversion, inv(8)(p23q22). Cytogenet Cell Genet 62:199-202
19. Martin RH, Chernos JE, Lowry RB, Pattinson HA, Barclay L, Ko E (1994) Analysis of sperm chromosome complements from a man heterozygous for a pericentric inversion of chromosome 1. Hum Genet 93:135-138
20. Navarro J, Benet J, Martorell MR, Templado C, Egozcue J (1993) Segregation analysis in a man heterozygous for a pericentric inversion of chromosome 7 (p13;q36) by sperm chromosome studies. Am J Hum Genet 53:214-219
21. Neri G, Tedeschi B, Serra A, Sanfilipo S (1981) Pericentric inversion of chromosome 9 and Down's syndrome: a retrospective and prospective family survey. Clin Genet 19:526-527
22. Schinzel AA, Adelsberger PA, Binkert F, Basaran S, Antonarakis SE (1992) No evidence for a paternal interchromosomal effect from analysis of the origin of nondisjunction in Down syndrome patients with concomitant familial chromosome rearrangements. Am J Hum Genet 50:288-293
23. Serra A, Bova R, Neri G, Brahe C, Tedeschi B (1980) Potential effects of pericentric inversion of the heterochromatic region of chromosome 9. Clin Genet 18:87
24. Serra A, Brahe C, Millington-Ward A, Neri G, Tedeschi B, Tassone F, Bova R (1990) Pericentric inversion of chromosome 9: prevalence in 300 Down syndrome families and molecular studies of nondisjunction. Am J Med Genet Suppl 7:162-168
25. Stahl A, Hartung M (1981) L'hétérochromatine. Ann Génet 24: 69-77
26. Stahl A, Luciani JM, Devictor M, Capodano AM, Gagné R (1975) Constitutive heterochromatin and micronucleoli in the human oocytes at the diplotene stage. Humangenetik 26:315-327
27. Vidai F, Moragas M, Català V, Torelló MJ, Santaló J, Calderón G, Giménez C, Barri PN, Egozcue J, Veiga A (1993) Sephadex filtration and human serum albumin gradients do not select spermatozoa by sex chromosome: a fluorescent in-situ hybridization study. Hum Reprod 8:1740-1743
28. Wang HS, Hamerton JL (1979) C-band polymorphism of chromosomes 1, 9 and 16 in four subgroups of mentally retarded patients and a normal control population. Hum Genet 51:269-275
29. Winsor EJT, Palmer CG, Ellis PM, Hunter JLP, Ferguson-Smith MA (1978) Meiotic analysis of a pericentric inversion, inv(7)(p22q32) in the father of a child with a duplication-deletion of chromosome 7. Cytogenet Cell Genet 20:169-184
30. Yavetz H, Yogez L, Hommonai Z, Paz G (1991) Prerequisites for successful human sperm cryobanking: sperm quality and pre-freezing holding time. Fertil Steril 55:812-816