Alternative centromeric inactivation in a pseudodicentric t(Y;13)(q12;p11.2) translocation chromosome associated with extreme oligozoospermia

Jp, Siffroi; Benzacken, Brigitte; Angelopoulou, Roxani; C, Le Bourhis; Berthaut, Isabelle; Kanafani, S.; Smahi, Asma; Jp, Wolf; Jp, Dadoune

doi:10.1136/jmg.38.11.802

Cited by 10 publications

(5 citation statements)

References 16 publications

(14 reference statements)

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“…A second event, the stable inactivation of one of the two centromeres is obligatory to enable its transmission and therefore assures the stable integrity of the karyotype of the male carriers. Two male patients with de novo 45,X,dic(Y;13) or 45,X,dic(Y;14) karyotypes, respectively, are described as having similar breakpoints on the Y chromosome and on the acrocentric autosome, but miss stable inactivation, leading to male infertility by spermatogenetic arrest (Siffroi et al, 2001;Buonadonna et al, 2002).…”

Section: Discussionmentioning

confidence: 99%

A family case of fertile human 45,X,psu dic(15;Y) males

Wimmer

Schempp²,

Gopinath³

et al. 2006

Cytogenet Genome Res

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We report on a familial case including four male probands from three generations with a 45,X,psu dic(15;Y)(p11.2;q12) karyotype. 45,X is usually associated with a female phenotype and only rarely with maleness, due to translocation of small Y chromosomal fragments to autosomes. These male patients are commonly infertile because of missing azoospermia factor regions from the Y long arm. In our familial case we found a pseudodicentric translocation chromosome, that contains almost the entire chromosomes 15 and Y. The translocation took place in an unknown male ancestor of our probands and has no apparent effect on fertility and phenotype of the carrier. FISH analysis demonstrated the deletion of the pseudoautosomal region 2 (PAR2) from the Y chromosome and the loss of the nucleolus organizing region (NOR) from chromosome 15. The formation of the psu dic(15;Y) chromosome is a reciprocal event to the formation of the satellited Y chromosome (Yqs). Statistically, the formation of 45,X,psu dic(15;Y) (p11.2;q12) is as likely as the formation of Yqs. Nevertheless, it has not been described yet. This can be explained by the dicentricity of this translocation chromosome that usually leads to mitotic instability and meiotic imbalances. A second event, a stable inactivation of one of the two centromeres is obligatory to enable the transmission of the translocation chromosome and thus a stably reduced chromosome number from father to every son in this family.

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Section: Discussionmentioning

confidence: 99%

A family case of fertile human 45,X,psu dic(15;Y) males

Wimmer

Schempp²,

Gopinath³

et al. 2006

Cytogenet Genome Res

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“…It is widely known that dicentric chromosomes have only one mitotically active centromere in order to prevent chromosomal bridges and breakages from occurring at anaphase. Therefore, inactivation of the terminal centromere (alphoid sequence) must have occurred in our patient, which is largely an epigenetic process that may be associated with changes in alphoid DNA structure [Siffroi et al, 2001]. Consequently, it is possible that the (‐TTAAGGG‐)n sequence may be located distal to the alphoid sequence, which would favor the different steps we propose to have produced the chromosome abnormality observed in our patient.…”

Section: To the Editormentioning

confidence: 79%

Dicentric inverted duplication of entire 4p arm with no apparent deletion and internal placing of the (‐TTAGGG‐)n sequence: Description of the first patient

Rodríguez¹,

Martínez‐Fernández²,

Aceña³

et al. 2009

American J of Med Genetics Pt A

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“…29,31 The presence of AZF region has been shown by molecular techniques in our patient. Dicentric chromosomes are unstable during cell division.…”

Section: Discussionmentioning

confidence: 98%

Translocation Y;21 in an Infertile Male Patient Having 45, X Karyotype: Case Report

Semerci¹,

Eser²,

Tufan³

et al. 2012

Turkiye Klinikleri J Med Sci

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1732 ale factor problems are observed in about 25-40% of the infertile couples in the population. The etiology of infertility is unknown in 30% of infertile males. Genetic causes of male infertility include numerical or constitutional chromosomal aberrations (inversion or translocation), microdeletions of Y chromosome, mitochondrial DNA mutations, monogenic diseases and multifactorial diseases. Chromosomal abnormalities are detected in 5.1% of all infertile men, 13.7% of azoospermic and 4.6% of oligospermic patients. Sex chromosome aneuplodies account for approximately 70% of chromosomal abnormalities seen in infertile males. A AB BS ST TR RA AC CT T A 30-year-old male patient referred to our clinic for unraveling the underlying etiology of the azoospermia. He had no unusual medical history. At physical examination, obesity, short neck and gynecomastia were noted. All hormone levels were normal except estradiol which was 2-fold higher than the upper limit. Having azoospermia in the spermiogram, scrotal ultrasonography was normal. Cytogenetic analysis and fluorescence in situ hybridization were performed subsequently, 45,X,add(21)(p10) and 45,X,add(21)(p10).ish der(Y;21) (q12;p10) were found, respectively. On C-banding, dicentric staining of translocated chromosome was observed. NOR banding was negative. Molecular genetics studies using multiplex polymerase chain reaction revealed the presence of Y chromosome sequences at SRY, AZFa, AZFb, AZFc regions.

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Alternative centromeric inactivation in a pseudodicentric t(Y;13)(q12;p11.2) translocation chromosome associated with extreme oligozoospermia

Cited by 10 publications

References 16 publications

A family case of fertile human 45,X,psu dic(15;Y) males

A family case of fertile human 45,X,psu dic(15;Y) males

Dicentric inverted duplication of entire 4p arm with no apparent deletion and internal placing of the (‐TTAGGG‐)n sequence: Description of the first patient

Translocation Y;21 in an Infertile Male Patient Having 45, X Karyotype: Case Report

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