Interchromosomal effects in man

Hecht, Frederick; Patil, Shivanand R.

doi:10.1111/j.1399-0004.1977.tb00924.x

Clinical Genetics

1977

DOI: 10.1111/j.1399-0004.1977.tb00924.x

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Interchromosomal effects in man

Frederick Hecht

Shivanand R. Patil

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Cited by 7 publications

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“…There have been several investigations into the families of Down's Syndrome probands which have uncovered a different chromosomal abnormality in one or more family members, including XO (Broustet et al 1975, Lajborek-Czyz 1976, XXY (Wright et al 1963), XYY (Hauschka et al 1962), XXX (Breg et al 1962), trisomy 18 (Turner et al 1964), ring 18 (Grace & Sills 1978), pericentric inversion of Y (Sparkes et al 1970) and balanced reciprocal translocation (Lundsteen et al 1974, Oikawa et al 1977. These reports suggest that there is an interchromosomal effect in man, but Lundsteen et al (1974) consider that it is not yet possible to establish a correlation between chromosomal abnormalities and the occurrence of non-disjunction, and Hecht & Patil (1977) state that there is no proof that chromosomal rearrangements influence the meiotic behaviour of other chromosomes.…”

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confidence: 99%

Occurrence of sex chromosome mosaicism and translocation Down's syndrome in the same family

Smith

Elliott

1980

Clinical Genetics

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The proband in this family has translocation Down's Syndrome 46, XX, t(14;21)(pll;qll), and this translocation was present in other family members. Sex chromosome mosaicism was demonstrated in three generations of the family, providing another example of familial mosaicism. There was also excessive foetal wastage in different family members. It was not possible to assign one common aetiological factor to account for these various abnormalities. Dermatoglyphic studies showed dominant inheritance of finger‐tip arch patterns in one branch of the family.

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confidence: 99%

Occurrence of sex chromosome mosaicism and translocation Down's syndrome in the same family

Smith

Elliott

1980

Clinical Genetics

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Genetic counseling in translocations

Simpson

Bischoff

2002

Urologic Clinics of North America

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Study of the occurrence of interchromosomal effect in spermatozoa of chromosomal rearrangement carriers by fluorescence in-situ hybridization and primed in-situ labelling techniques

Pellestor

Imbert²,

Andréo³

et al. 2001

Human Reproduction

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The possibility that a chromosomal rearrangement might disturb the meiotic behaviour of chromosomes not involved in the rearrangement and favour non-disjunction is a controversial issue in human cytogenetics. Using two-colour fluorescence in-situ hybridization and primed in-situ labelling techniques, we have investigated the segregation pattern of 10 chromosomes (chromosomes 1, 4, 9, 13, 15, 16, 20, 21, X and Y) in spermatozoa from nine carriers of balanced structural rearrangements and three normal men. The patients were divided into two groups according to their semen parameters. In rearrangement carriers and normal subjects, sex chromosomes and chromosome 21 displayed a higher rate of disomy than the other chromosomes. No evidence for the occurrence of interchromosomal effect was found in the spermatozoa of fertile rearrangement carriers, but significant variations were observed for all chromosomes tested in the group of infertile translocation carriers, suggesting a direct correlation between poor quality spermatozoa and increased aneuploidy rate in this group. In fertile carriers of chromosomal rearrangements, the occurrence of non-disjunction of chromosomes not involved in the rearrangement might therefore be considered as fortuitous, whereas in infertile carriers, the risk for interchromosomal effect appears to be real and should be taken into consideration in the genetic counselling of infertile couples with a male partner carrying a chromosomal rearrangement.

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Interchromosomal effects in man

Cited by 7 publications

References 2 publications

Occurrence of sex chromosome mosaicism and translocation Down's syndrome in the same family

Occurrence of sex chromosome mosaicism and translocation Down's syndrome in the same family

Genetic counseling in translocations

Study of the occurrence of interchromosomal effect in spermatozoa of chromosomal rearrangement carriers by fluorescence in-situ hybridization and primed in-situ labelling techniques

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