Association of the X chromosomal region q11→22 and Klinefelter syndrome

Patil, Shivanand R.; Bartley, James; Hanson, James W.

doi:10.1111/j.1399-0004.1981.tb00721.x

Cited by 11 publications

(7 citation statements)

References 12 publications

(13 reference statements)

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“…Hypergonadotrophic hypogonadism and infertility are described both in KS patients with 47,XXY and those with an isochromosome Xq. Studies on patients with structurally abnormal X‐chromosomes showed that additional material of Xq causes azoospermia in males [Patil et al, 1981; Kleczkowska et al, 1988; Mark et al, 1999]. This observation is in agreement with the extreme OAT in our patient and the near normal sperm parameters in his twin brother.…”

Section: Resultssupporting

confidence: 90%

Variant Klinefelter syndrome 47,X,i(X)(q10),Y and normal 46,XY karyotype in monozygotic adult twins

Stemkens

Broekmans

Kastrop

et al. 2007

American J of Med Genetics Pt A

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Klinefelter syndrome (KS; 47, XXY) is characterized by increased body height, hypergonadotrophic hypogonadism, and infertility. We describe a patient with a variant KS (47,X,i(Xq),Y) who has a twin brother with a 46,XY karyotype. Molecular studies showed that the twins were monozygotic. The presence of an isochromosome Xq in one of two monozygotic twins allows precise investigation of its phenotypic effect. The patient was somewhat shorter (3.5 cm) and had a smaller volume of the testes (8 vs. 18 ml) as compared to his twin brother. Furthermore he had increased gonadotrophin levels and an extreme oligoasthenoteratozoospermia (OAT). These data support the view that genes on Xp cause increased body height and genes on Xq cause infertility in KS. To our knowledge this is the first report on a heterokaryotypic monozygotic twin with a variant KS.

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Section: Resultssupporting

confidence: 90%

Variant Klinefelter syndrome 47,X,i(X)(q10),Y and normal 46,XY karyotype in monozygotic adult twins

Stemkens

Broekmans

Kastrop

et al. 2007

American J of Med Genetics Pt A

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“…They stated that their patient was of normal intelligence and body development. In addition, elevated FSH and LH levels were reported in their patient (Patil et al, 1981). Their findings were consistent with those of our patient.…”

Section: Discussionsupporting

confidence: 92%

A rare variant Klinefelter syndrome seen 40 years later: 47,X,del(Xq24),Y

Özkent

Balasar

2021

Andrologia

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Klinefelter syndrome (KS) is the most common sex chromosome aneuploidy in humans, characterised by an extra X-chromosome. Its estimated incidence is one in every 500-1,000 births (Lanfranco et al., 2004). It is one of the most common reasons for nonobstructive azoospermia (Takeda et al., 2017). Patients affected by KS are usually characterised by narrow shoulders, sparse body, tall stature, facial hair, gynecomastia and normal to slightly lower intelligence.In addition, these patients may have clinical symptoms including infertility, low testosterone levels, increased serum follitropin (FSH) and lutropin (LH) values, high thromboembolic risk, osteoporosis and azoospermia (Bojesen & Gravholt, 2007).Klinefelter syndrome patients typically show the 47,XXY karyotype. However, some variations have been observed including 47,XX,der(Y), 46,XY/47,XXY, 48,XXXY, 48,XXYY and mosaicism or structural sex chromosome abnormalities in some patients (Fruhmesser & Kotzot, 2011).In the literature, a rare KS variant, 47,X,del(Xq),Y karyotype,

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“…These symptoms were consistent with those reported in the case by Chandra et al [1971]. Patil et al [1981] suggested that the region q11 ] 22 might be associated with the phenotype of the KS, but this was revised in the same year by Fryns. He described a case of a 30-year-old male with completely normal phenotype without gynecomastia and normal sexual development [Fryns, 1981].…”

Section: Klinefelter Patients With Additional Aberrations On One Of Tsupporting

confidence: 80%

“…However, it should be mentioned that Chandra et al [1971] described a boy of unknown age and Nielsen [1966] a 54-year-old man. Patil et al [1981] reported a case of a 19-year-old KS patient with gynecomastia, small testes, and azoospermia. The analysis of the chromosomes showed a deletion of parts of the long arm of the X chromosome with the breakpoint in q22.…”

Section: Klinefelter Patients With Additional Aberrations On One Of Tmentioning

confidence: 99%

Chromosomal Variants in Klinefelter Syndrome

Frühmesser

Kotzot²

2011

Sex Dev

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Klinefelter syndrome (KS) describes the phenotype of the most common sex chromosome abnormality in humans and occurs in one of every 600 newborn males. The typical symptoms are a tall stature, narrow shoulders, broad hips, sparse body hair, gynecomastia, small testes, absent spermatogenesis, normal to moderately reduced Leydig cell function, increased secretion of follicle-stimulating hormone, androgen deficiency, and normal to slightly decreased verbal intelligence. Apart from that, amongst others, osteoporosis, varicose veins, thromboembolic disease, or diabetes mellitus are observed. Some of the typical features can be very weakly pronounced so that the affected men often receive the diagnosis only at the adulthood by their infertility. With a frequency of 4%, KS is described to be the most common genetic reason for male infertility. The most widespread karyotype in affected patients is 47,XXY. Apart from that, various other karyotypes have been described, including 46,XX in males, 47,XXY in females, 47,XX,der(Y), 47,X,der(X),Y, or other numeric sex chromosome abnormalities (48,XXXY, 48,XXYY, and 49,XXXXY). The focus of this review was to abstract the different phenotypes, which come about by the various karyotypes and to compare them to those with a ‘normal’ KS karyotype. For that the patients have been divided into 6 different groups: Klinefelter patients with an additional isochromosome Xq, with additional rearrangements on 1 of the 2 X chromosomes or accordingly on the Y chromosome, as well as XX males and true hermaphrodites, 47,XXY females and Klinefelter patients with other numeric sex chromosome abnormalities. In the latter, an almost linear increase in height and developmental delay was observed. Men with an additional isochromosome Xq show infertility and other minor features of ‘normal’ KS but not an increased height. Aside from the infertility, in male patients with other der(X) as well as der(Y) rearrangements and in XXY women no specific phenotype is recognizable amongst others due to the small number of cases. The phenotype of XX males depends on the presence of SRY (sex-determining region Y) and the level of X inactivation at which SRY-negative patients are generally rarely observed.

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Association of the X chromosomal region q11→22 and Klinefelter syndrome

Cited by 11 publications

References 12 publications

Variant Klinefelter syndrome 47,X,i(X)(q10),Y and normal 46,XY karyotype in monozygotic adult twins

Variant Klinefelter syndrome 47,X,i(X)(q10),Y and normal 46,XY karyotype in monozygotic adult twins

A rare variant Klinefelter syndrome seen 40 years later: 47,X,del(Xq24),Y

Chromosomal Variants in Klinefelter Syndrome

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