Aspermia, associated with a presumably balanced X/autosomal translocation

Stengel‐Rutkowski, S.; Zankl, Heinrich; Rodewald, A.; Scharrer, S.; Chaudhuri, J. P.; Zang, K. D.

doi:10.1007/bf00270405

Cited by 19 publications

(1 citation statement)

References 38 publications

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“…The incidence of Klinefelter's syndrome in our study is particularly low and although this (Grell & Valencia, 1964;Oikawa, Trent & Lebovitz, 1977) (Buckton, Jacobs, Rae, Newton & Sanger, 1971;Dutrillaux, Couturier, Rotman, Salat & Lejeune, 1972;Stengel-Rutkowski et al, 1976;Turleau, Chavin-Colin, De Grouchy, Repesse & Beauvais, 1977 (Chandley et al, 1975). We have no evidence on this point and prefer to regard our patient as being the carrier of a variant chromosome.…”

Section: Family Studiesmentioning

confidence: 50%

A cytogenetic survey of men being investigated for subfertility

Faed¹,

Robertson²,

Lamont³

et al. 1979

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Section: Family Studiesmentioning

confidence: 50%

A cytogenetic survey of men being investigated for subfertility

Faed¹,

Robertson²,

Lamont³

et al. 1979

Reproduction

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Dicentric chromosome 13 and centromere inactivation

et al. 1983

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The karyotype of a child with dysmorphic findings suggestive of both trisomy 13 and the 13q--syndrome was found to have cells with one of two different dicentric chromosomes: one bearing a duplication of chromosome 13q [46,XX,-13, + psu dic (13)t(13;13)(pter leads to cen leads to q34::q34 leads to pter)] and the other a deletion of 13q [46,XX,-13, + psu dic (13)t(13;13)(pter leads to cen leads to q22::q11 leads to pter]. Longitudinal cytogenetic studies in leukocytes demonstrated a loss of those cells possessing the small dicentric [psu dic(13)(q22;q11)], whereas fibroblasts from two separate skin biopsies contained only this marker. Q-band polymorphisms indicated that both dicentrics were of paternal origin, with the smaller dicentric derived from the larger via the bridge-breakage-fusion cycle. The presence of two active centromeres could not be confirmed in either dicentric.

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X-Autosome translocations: Cytogenetic characteristics and their consequences

et al. 1982

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To define the principal characteristics of X-autosome translocations, the authors present a study of 105 cases, five of which are personal observations. The autosomal pairs 15, 21, and 22 are affected by t(X-Aut) more often than would be expected. The distribution of breakpoints on the X chromosome does not differ significantly from the expected distribution. The analysis of different patterns of inactivation seems to confirm that the inactivation could occur at random, but would be followed by a cellular selection favoring the better genetic balance. An estimate of the incidence of t(X-Aut) is proposed, based upon the conclusions that only one chromosome is susceptible to translocation in meiosis in both males and females and that all affected men will be sterile, as will be 50% of women.

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Aspermia, associated with a presumably balanced X/autosomal translocation

Abstract: A new case of X/autosome translocation in a male patient is described. Azoospermia and Klinefelter like stigmata can be explained as a consequence of the balanced translocation, or by disturbed X-chromosomal inactivation during spermiogenesis.

Cited by 19 publications

References 38 publications

A cytogenetic survey of men being investigated for subfertility

A cytogenetic survey of men being investigated for subfertility

Dicentric chromosome 13 and centromere inactivation

X-Autosome translocations: Cytogenetic characteristics and their consequences

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