A 47,XXq-Y Klinefelter male.

Chandra, H. Sharat; Reddy, G N; Peter, Jorge; Venkatachalaiah, G.

doi:10.1136/jmg.8.4.530

Cited by 6 publications

(9 citation statements)

References 4 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Just the FSH and LH levels were increased. 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.…”

Section: Klinefelter Patients With Additional Aberrations On One Of Tsupporting

confidence: 80%

“…The decreased body height in the man, stands, because of his 2 Xp arms, in contrast to the hypothesis about the relevance of the number of SHOX gene copies, but it should be mentioned that Nielsen et al published the case in 1966 and it is not possible to control the correctness of the karyotype. Chandra et al [1971] also reported a male patient with a 47,XXq-Y karyotype. A little less than half of the long arm appears to have been deleted from one of the X chromosomes.…”

Section: Klinefelter Patients With Additional Aberrations On One Of Tmentioning

confidence: 99%

“…The differences between these 2 cases are the gynecomastia and the body height, which supports the assertion of the SHOX gene hypothesis. 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.…”

Section: Klinefelter Patients With Additional Aberrations On One Of Tmentioning

confidence: 99%

See 2 more Smart Citations

Chromosomal Variants in Klinefelter Syndrome

Frühmesser

Kotzot²

2011

Sex Dev

View full text Add to dashboard Cite

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.

show abstract

Section: Klinefelter Patients With Additional Aberrations On One Of Tsupporting

confidence: 80%

Section: Klinefelter Patients With Additional Aberrations On One Of Tmentioning

confidence: 99%

Section: Klinefelter Patients With Additional Aberrations On One Of Tmentioning

confidence: 99%

See 1 more Smart Citation

Chromosomal Variants in Klinefelter Syndrome

Frühmesser

Kotzot²

2011

Sex Dev

View full text Add to dashboard Cite

show abstract

“…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

View full text Add to dashboard Cite

show abstract

Isochromosome Xq in Klinefelter syndrome: Report of 7 new cases

et al. 1996

View full text Add to dashboard Cite

In this collaborative study we report on 2 prenatally and 5 postnatally diagnosed cases with a 47,X,i(Xq), Y chromosomal constitution. Excepting tall stature, the 5 adult patients showed all typical manifestations of Klinefelter syndrome. Taken together with previously reported cases, these data suggest that Klinefelter syndrome with isochromosome Xq has a favorable prognosis with normal mental development, and with normal‐to‐short stature. The prevalence of this Klinefelter variant is calculated to be between 0.3–0.9% in males with X chromosome polysomies. © 1996 Wiley‐Liss, Inc.

show abstract

A 47,XXq-Y Klinefelter male.

Cited by 6 publications

References 4 publications

Chromosomal Variants in Klinefelter Syndrome

Chromosomal Variants in Klinefelter Syndrome

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

Isochromosome Xq in Klinefelter syndrome: Report of 7 new cases

Contact Info

Product

Resources

About