Structural aberrations of the Y chromosome and the corresponding phenotype

Siebers, J. W.; Vogel, Walther; Hepp, H.; Bolze, H.; Dittrich, A.

doi:10.1007/bf00295235

Cited by 40 publications

(16 citation statements)

References 27 publications

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“…The derivation of additional genotypes by breakage and nondisjunction from an original dicentric cell line have undoubtedly influenced this patient's phenotype. The presence of two cell populations bearing abnor mal Y chromosomes, in addition to the major 45,X cell line, in testicular tissue is especially significant, with an obvious effect on the patient's sexual and testicular development depending on when, in development, these cell lines arose (Siebers et al, 1973).…”

Section: Discussionmentioning

confidence: 99%

A mitotically unstable human dicentric Y chromosome in a male pseudohermaphrodite

Buchanan¹,

Wyandt²,

D’Ercole³

et al. 1976

Cytogenet Genome Res

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A patient with a mitotically unstable dic(Y)(pll) chromosome is reported. Physical examination revealed a small penis with severe hypospadia, undescended testes, rudimentary vagina, uterus, left fallopian tube, and no stigmata of Turner syndrome. Longitudinal chromosome studies over a four-year period, including blood, skin, foreskin, and testicular tissue, revealed 45, X/46, X, dic(Y)(pll)/46, X, del(dicY) mosaicism. The proportions of these cells varied in the different tissues, and only 45, X and 46, X, del(dicY) were major cell lines in testicular tissue. Additional minor cell lines were present mainly in peripheral blood: 47, X, dicY, dicY; 47, X, dicY, del (dicY); and 47, X, del(dicY), del(dicY). Premature disjunction of one of the centromeres in a high percentage of the dicentric Y chromosomes in metaphase was observed by Q- and C-banding. Lymphocytes at anaphase and telophase showed lagging Y chromosomes, fragments, and nondisjunction. These observations indicate a high degree of mitotic instability and thus raise the question of the effect of premature centromeric disjunction on mitotic instability of dicentric chromosomes.

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Section: Discussionmentioning

confidence: 99%

A mitotically unstable human dicentric Y chromosome in a male pseudohermaphrodite

Buchanan¹,

Wyandt²,

D’Ercole³

et al. 1976

Cytogenet Genome Res

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“…155 The authors explain this finding on the basis of the theory of Siebers et a!. 77 However, it could just as easily be explained by the suggestion in the preceding paragraph, as well as by the theory of Devictor-Vuillet et a!123 (see p 170). They also assume that the 'maturation' gene is on the distal part of the Yp.…”

Section: Ronald M Davismentioning

confidence: 98%

Localisation of male determining factors in man: a thorough review of structural anomalies of the Y chromosome.

Davis¹

1981

Journal of Medical Genetics

137

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“…However, the question of the location of sex determining genes remains unsettled. Several authors suggested that both arms of the Y chromosome are important for sex determination [Ferguson-Smith et al, 1969;Armendares et al, 1972;Siebers et al, 1973;Davis, 19811 and normal spermatogenesis. Tiepolo and Zuffardi [1976] suggested that testicular development is initiated by Yq but cannot be completed in the absence of Yp.…”

Section: Discussionmentioning

confidence: 99%

Dicentric i(Yq) chromosome and azoospermia

1983

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We have studied a 43-year-old man with azoospermia. Chromosome analysis, using G-, Q-, and C-banding techniques, showed a dicentric 46,X,i(Yq) chromosome abnormality. The clinical, cytogenetic, endocrine, and testicular histologic findings are presented. The case is discussed in relation to the pertinent literature. This represents the first phenotypic male with this karyotype ever reported. Key words: azoospermia, dicentric i(Yq) chromosome, gonadotropins, sex-determining genes, spermatogenesis INTRODUCTIONThe human Y chromosome may show extreme length variability in normal individuals and in individuals with physical abnormalities [Cohen et al, 1966; McKenzie et al, 19721. These variations are due to differences in the length of the fluorescent and the nonfluorescent portion of the long arm of the Y chromosome [Tiepolo and Zuffardi, 1976; Verma et al, 19781. They are inherited in a Mendelian fashion [Bishop et al, 1962;de la Chapelle et al, 1963;Borgaonkar et al, 1969; McKenzie et al, 19721. A great number of different structural rearrangements of the Y chromosome has also been reported. These include deletions [Davis, 1981; Yunis et al, 19771, dicentrics [McIlree et al, 1966;Davis, 1981;Armendares et al, 1972;Cohen et al, 1973;Giraud et al, 1977; Schmid and D'Apuzzo, 19781, duplications [Sperling and Lackmann, 19711, inversions [Jacobs and Ross, 1966; Sparkes et al, 19701, isochromosomes [Jacobs and Ross 1966;Ferguson-Smith et al, 1969;Magnelli et al, 1974; Schmid and D'Apuzzo, 19781, rings [Chandley and Edmond, 1971; Steinbach et al, 19791, satellited Y chromosomes [Schmid, 1969; Turleau et al, 19781, and transloca- [Federman et al, 1967;Schmid, 1969;Biihler et al, 1971; Davis, 19811. These structural aberrations of the human Y chromosome may cause defective testicular histogenesis. The phenotype of persons with such abnormalities may vary from female with or without manifestations of the Ullrich-Turner syndrome to male with fertility [Federman et al, 1967; Chandley and Edmond, 1971; Davis, 19811. We present the clinical, cytogenetic, endocrine, and testicular histologic findings of an azoospermic man with a dicentric i(Yq) chromosome. SUBJECT, METHODS, AND RESULTS Case HistoryA 43-year-old man presented with primary infertility. He has a sister and three brothers who are fertile. He reported normal erection and ejaculation with adequate frequency of coitus. Semen analysis done on three seperate occasions showed azoospermia. He was 178 cm tall, had a span of 172 cm, and a weight of 82 kg. Body hair showed a normal male pattern except for decreased hair over the chest. There was no gynecomastia. Both testes were of normal size and consistency and his penis and urethra were normal. He was otherwise normal (Fig. 1).A testicular biopsy was done and part of the tissue was fixed in Bouin's solution for the histologic examination; the other part was directly transferred to an antibioticcontaining Hanks balanced salt solution for fibroblast culture. Laboratory DataComplete blood count and urinalysis were no...

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Structural aberrations of the Y chromosome and the corresponding phenotype

Cited by 40 publications

References 27 publications

A mitotically unstable human dicentric Y chromosome in a male pseudohermaphrodite

A mitotically unstable human dicentric Y chromosome in a male pseudohermaphrodite

Localisation of male determining factors in man: a thorough review of structural anomalies of the Y chromosome.

Dicentric i(Yq) chromosome and azoospermia

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