Interstitial insertion of Y-specific DNA sequences including SRY into chromosome 4 in a 45,X male child

Yenamandra, Aswani; DeAngelo, Patricia; Aviv, Hana; Suslak, Lorraine; Desposito, Franklin

doi:10.1002/(sici)1096-8628(19971017)72:2<125::aid-ajmg1>3.0.co;2-u

Cited by 11 publications

(6 citation statements)

References 26 publications

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“…However, if the autosome is a nonacrocentric chromosome and there is a euchromatic autosomal deletion, mental retardation and congenital anomalies are common. The reported autosomal deletion syndromes associated with 45,X and a Y;autosome include 4p deletion syndrome (25), cri-du-chat syndrome (8,(14)(15)(16), Jacobsen syndrome (17), 18p deletion syndrome (18,(22)(23), 9p deletion syndrome (34,38), 1p deletion syndrome (20,37), 16p deletion syndrome (36), and 6p deletion syndrome (19).…”

Section: Figurementioning

confidence: 93%

Characterization of a de novo unbalanced Y;autosome translocation in a 45,X mentally retarded male and literature review

Chen

Lin

Tsai

et al. 2008

Fertility and Sterility

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Section: Figurementioning

confidence: 93%

Characterization of a de novo unbalanced Y;autosome translocation in a 45,X mentally retarded male and literature review

Chen

Lin

Tsai

et al. 2008

Fertility and Sterility

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“…We have known since 1990 that the SRY gene (sex determining region Y), located at the tip of the Y short arm (Yp11.3) and proximal to the pseudoautosomal boundary, is the critical switch leading to testis development . Mutations in SRY result in XY individuals developing as females, and patients with 45,X karyotype who have insertion of SRY into an autosome have a male phenotype (Yenamandra et al 1997). Mutations in this gene can cause failure of testicular development that may result in complete or partial male to female sex reversal (Cameron and Sinclair 1997).…”

Section: Introductionmentioning

confidence: 99%

A point mutation, R59G, within the HMG-SRY box in a female 45,X/46,X, psu dic(Y)(pter→q11::q11→pter)

et al. 2002

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We report a molecular and cytogenetic investigation of a psu dic(Yp) chromosome identified in blood and ovarian tissue from a female with mosaic karyotype 45,X/46,X,+ psu dic(Yp). FISH analysis showed that the psu dic(Yp) has two copies of the short arm, two centromeres and two copies of the proximal long arm. PCR analysis also confirmed the presence of the SRY gene and the Y centromere, and also confirmed the deletion of the Y-heterochromatic region. Because of the possibility of a mutation, a fragment of 609 bp of the SRY gene was sequenced from independent PCR products. The analysis of the sequence indicated the presence of two different copies of the gene: one presented a point mutation, R59G, within the HMG-box; the other had a sequence identical to that already published. Both sequences were found at a proportion of 1:1. The absence of a 46,XY cell line suggests that the rearrangement took place during gametogenesis or during the first division after fertilization. Also, the existence of different sequences of the SRYgene in the same Y chromosome suggests that the formation of the dicentric took place prior to the mutation of the SRY gene. To our knowledge, this is the first time that a mutation has been described in codon 59 within the HMG- SRY box, and also the first case of a psu dic(Yp) chromosome that displays two different copies of the SRY gene.

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“…Mental retardation and multiple congenital abnormalities are more common if the translocation is with a non-acrocentric chromosome. [8][9][10][11][12][13][14][15][16][17][18][19][20][21][22][23][24] The patients with Y; acrosentric chromosome translocation usually suffer from infertility due to azoospermia or oligozoospermia. [25][26][27][28][29] In our patient, there is a dicentric chromosome with an unbalanced translocation between q12 region of Y chromosome and p10 region of chromosome 21 which results in loss of heterochromatic region of Y chromosome.…”

Section: Discussionmentioning

confidence: 99%

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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Interstitial insertion of Y-specific DNA sequences including SRY into chromosome 4 in a 45,X male child

Cited by 11 publications

References 26 publications

Characterization of a de novo unbalanced Y;autosome translocation in a 45,X mentally retarded male and literature review

Characterization of a de novo unbalanced Y;autosome translocation in a 45,X mentally retarded male and literature review

A point mutation, R59G, within the HMG-SRY box in a female 45,X/46,X, psu dic(Y)(pter→q11::q11→pter)

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

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