A deletion of heterochromatin only of the Y chromosome in an azoospermic male

Cohen, G.; Manuel, Anne; Cohen, Margaret; Fagan, Kerry; Grunstein, H. S.

doi:10.1007/bf00279416

Cited by 18 publications

(6 citation statements)

References 9 publications

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“…In a survey of more than 1,000 subfertile males, Tiepoli and Zuffardi [ 19761 identified five phenotypically normal males with azoospermia and a deletion of Yq with a break in the distal portion of band Yqll. Azoospermia associated with various Yq deletions were also reported by other investigators [Yunis et al, 1977;Alvesalo and de la Chapelle, 1981;Cohen et al, 1983;Fitch et al, 19851. Schmid et al [1981] described two oligospermic but otherwise normal brothers with a complex rearrangement of the Y chromosome, including a deletion of the distal Y heterochromatin.…”

Section: Discussionsupporting

confidence: 65%

Minute chromosomes replacing the Y chromosome carry Y‐specific sequences by restriction fragment analysis and in situ hybridization

et al. 1985

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Two unrelated males, a 43-year-old man with azoospermia and a 4-year-old boy with stature at the 10th centile, had similar karyotypes: 46,X,min. The minutes, present in all cells analyzed, stained weakly with G-, C-, and Q-banding methods. To elucidate their origin we used molecular techniques: In HaeIII digests of total genomic DNA from both individuals, no Y-specific reiterated sequences were detected. However, restriction fragment analysis with probe pDP31 demonstrated that the patients' DNA contained the Y-specific fragment. In situ hybridization with the same probe showed that these sequences were present on the minute chromosomes and have not been translocated elsewhere.

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Section: Discussionsupporting

confidence: 65%

Minute chromosomes replacing the Y chromosome carry Y‐specific sequences by restriction fragment analysis and in situ hybridization

et al. 1985

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“…A factor con trolling growth (GCY) has been mapped on Yql 1 (Alvesalo and de la Chapelle. 1981), proximal to AZF (Cohen et al, 1983). The breakpoint on the long arm of the Y chromosome described here has been localized within deletion interval 5, i.e., proximal to the putative location of AZF.…”

Section: Discussionmentioning

confidence: 99%

Ring Y chromosome: molecular characterization by DNA probes

Pohlschmidt

Rappold

Krause

et al. 1991

Cytogenet Genome Res

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A young male with a karyotype of 46, X,+mar is described. Physical mapping of the marker chromosome by using Y-specific single-copy or moderately repeated DNA sequences as molecular probes showed that, in addition to the heterochromatic part of the Yq, a considerable portion of the euchromatin in both Yp and Yq had been lost. These findings suggest that the marker chromosome is a ring Y, for the generally accepted model of ring formation implies breakages in both chromosome arms. The clinical features of the patient correlated well with the phenotypic changes expected from the loss of genetic material from the Y.

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“…The absence of the Y-linked actin from the DNAs of the four XX males suggest that this sequence is located outside from the region involved in sex determination. However, this sequence might represent a useful marker to analyse patients with cytogenetic anomalies of the Y chromosome, associated or not with defects in spermatogenesis (Cohen et al, 1983).…”

Section: Discussionmentioning

confidence: 99%

Actin-like sequences are present on human X and Y chromosomes.

Heilig¹,

Hanauer²,

Grzeschik³

et al. 1984

The EMBO Journal

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The human genome contains greater than 20 actin‐related sequences, six of which at least are expressed as protein. We have shown by blot hybridization the presence of actin‐like sequences on both the X and the Y chromosomes. These sequences can be detected in HindIII digests of genomic DNA, using as probe cDNA clones corresponding to human alpha skeletal actin or to a hamster (beta or gamma) cytoskeletal actin; they show more homology to the latter probe. The actin probes also detect a polymorphic DNA fragment showing autosomal inheritance with a frequency for the major allele of 0.55 in the population studied. The X‐linked actin sequence has been assigned to a centromeric region between Xp11 and Xq11 by hybridization to DNAs from a panel of human‐mouse hybrid cell lines, and thus lies outside the postulated region of homology between the X and Y chromosomes. The Y‐linked actin sequence can serve as a marker to analyse anomalies of sex determination or of gametogenesis in man. It was found in all XY males studied but was absent from the genomic DNA of four unrelated ‘XX male’ subjects and two XX hermaphrodites. This shows that the region of chromosome Y which contains the actin sequence is not translocated onto the X chromosome (or onto autosomes) in these patients.

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A deletion of heterochromatin only of the Y chromosome in an azoospermic male

Cited by 18 publications

References 9 publications

Minute chromosomes replacing the Y chromosome carry Y‐specific sequences by restriction fragment analysis and in situ hybridization

Minute chromosomes replacing the Y chromosome carry Y‐specific sequences by restriction fragment analysis and in situ hybridization

Ring Y chromosome: molecular characterization by DNA probes

Actin-like sequences are present on human X and Y chromosomes.

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