A 45,X sterile male with Yp disguised as 21p

Dávalos, Ingrid P.; Rivera, Horacio; Vásquez, Ana Isabel; Gutiérrez-Angulo, Melva; Hernández-Vázquez, Martha C.; Cortina-Luna, Fidel A.; Wong-Ley, Luis E.; Domínguez-Quezada, María G.

doi:10.1002/ajmg.10536

Cited by 7 publications

(3 citation statements)

References 15 publications

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“…[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. On physical examination, gynecomastia and short stature were observed.…”

Section: Discussionmentioning

confidence: 78%

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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Section: Discussionmentioning

confidence: 78%

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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show abstract

“… Total of 31 cases. References can be identified by the numbers in superscript: 1 Buonadonna et al [2002]; 2 Copelli et al [2000]; 3 Davalos et al [2002]; 4 Farah et al [1994]; 5 Gimelli et al [1996]; 6 reviewed in Hsu [1994]; 7 Huang et al [2002] 8 Nataf et al [2002]; 9 Sakai et al [1988]; 10 Stuppia et al [1999]; 11 Yenamandra et al [1997]. …”

Section: Discussionmentioning

confidence: 99%

α-thalassemia/mental retardation syndrome in a 45,X male

Kellermayer

Czakó²,

Kiss‐László

et al. 2005

Am. J. Med. Genet.

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“…However, in the case of TS, a sex chromosome from one parent is lost and the fertilized ovum contains 22 pairs of autosome but only one sex chromosome, which is always an X. The rare circumstance of males with a 45,X karyotype is thought to involve retention of testis-determining genes from the Y chromosome that have become attached to an autosome (Dávalos et al, 2002;Lahn & Page, 1999). Because the 45,X karyotype has been found in as many as 1 in 15 spontaneous abortions (Hall & Gilchrist, 1990), this genotype is thought to be potentially lethal, with only a minority of fetuses surviving to birth (Abd, Turk, & Hill, 1995).…”

Section: The Etiology Of Turner Syndromementioning

confidence: 99%

Turner Syndrome: Genetic and Hormonal Factors Contributing to a Specific Learning Disability Profile

Rovet

2004

Learn Disabil Res Pract

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Turner Syndrome (TS) is a genetic disorder affecting primarily females. It arises from a loss of X-chromosome material, most usually one of the two X chromosomes. Affected individuals have a number of distinguishing somatic features, including short stature and ovarian dysgenesis. Individuals with TS show a distinct neurocognitive profile involving visuospatial deficits and selective memory and attention difficulties. They also have a number of psychosocial and behavioral problems. They are at high risk of learning disabilities and often have a need for special education. Recent research has identified some of the genetic and hormonal mechanisms contributing to their neurobehavioral profile. This article reviews the current findings on TS and shows how understanding the impact of these factors on early brain development and later brain function might advance our understanding of learning disabilities more generally. The implications of current research findings for the daily management of children with TS in the classroom are also discussed.

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A 45,X sterile male with Yp disguised as 21p

Cited by 7 publications

References 15 publications

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

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

α-thalassemia/mental retardation syndrome in a 45,X male

Turner Syndrome: Genetic and Hormonal Factors Contributing to a Specific Learning Disability Profile

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