Klinefelter's syndrome with a presumptive deleted X chromosome.

Nielsen, Jørgen G.

doi:10.1136/jmg.3.2.139

Cited by 11 publications

(10 citation statements)

References 5 publications

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“…However all these individuals were mosaic with only one or two of the cell lines containing the deleted X. In fact, the only apparently non-mosaic case we are aware of is the one reported by Nielsen (1966). He reported a Klinefelter patient who was then 54 years old and whose karyotype is very similar to that of the present case.…”

Section: Discussionsupporting

confidence: 58%

A 47,XXq-Y Klinefelter male.

Chandra¹,

Reddy²,

Peter³

et al. 1971

Journal of Medical Genetics

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Section: Discussionsupporting

confidence: 58%

A 47,XXq-Y Klinefelter male.

Chandra¹,

Reddy²,

Peter³

et al. 1971

Journal of Medical Genetics

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“…In the human male, to our knowledge, a total of seven Klinefelter cases with a structural rearrangement of an X chromosome have been reported. These include: three cases of an isochromosome for the long arm of an X chromosome (Zang et al 1969, Kalousek et al 1978, Gardiner et al 1978; one case with an unbalanced translocation (Pallister & Opitz 1978); two cases with a presumably terminal deletion (Nielsen 1966, Chandra et al 1971; and one case with a n interstitial deletion (Nielsen et al 1976). Among the deleted cases, only the case with an interstitial deletion was identified with banding; the remaining two cases were described without banding; therefore, the amount of material deleted is uncertain.…”

Section: Discussionmentioning

confidence: 99%

“…It is estimated that 80 % of the cases show 47, XXY karyotype; the remaining 20 % have either multiple X chromosomes or a mosaic condition. Only a few cases of Klinefelter syndrome have been described with a structural rearrangement of an X chromosome (Nielsen 1966, Zang et al 1969, Chandra et al 1971, Nielsen et al 1976, Kalousek et al 1978, Gardiner et al 1978, Pallister & Opitz 1978. We present here a case with long arm deletion in one of the X chromosomes.…”

mentioning

confidence: 99%

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

1981

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“…The clinical and laboratory data on these cases are summarized in table 2 . The first case showing such a karyotype was reported by Nielsen who described a male KS patient with terminal deleted X chromosome mosaic (10% normal 46,XY cells) [Nielsen, 1966]. At the age of 54 years, the man was just 160 cm tall and his whole body hair was scanty.…”

Section: Klinefelter Patients With Additional Aberrations On One Of Tmentioning

confidence: 98%

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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Klinefelter's syndrome with a presumptive deleted X chromosome.

Cited by 11 publications

References 5 publications

A 47,XXq-Y Klinefelter male.

A 47,XXq-Y Klinefelter male.

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

Chromosomal Variants in Klinefelter Syndrome

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