Unravelling the parental origin and mechanism of formation of the 47,XY,i(X)(q10) Klinefelter karyotype variant

Höckner, Martina; Pinggera, Germar-Michael; Günther, Barbara; Sergi, Consolato; Fauth, Christine; Erdel, Martin; Kotzot, Dieter

doi:10.1016/j.fertnstert.2008.05.054

Cited by 14 publications

(13 citation statements)

References 18 publications

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“…Until now, 20 patients with i(Xq) have been reported in the literature (3,(9)(10)(11)(12)(13)(14)(15)(16)(17)(18)(19)(20)(21)(22)(23). In general, all 47,X,i(Xq),Y patients have been reported to exhibit the main clinical features of Klinefelter syndrome, including reduced androgenization, small testes, azoospermia, gynecomastia, and elevated FSH and LH levels.…”

Section: Discussionmentioning

confidence: 99%

“…It is characterized by infertility, elevated FSH and LH levels, normal or reduced testosterone level, average or increased height, reduced beard growth and muscle strength, osteoporosis, increased thromboembolic risk, obesity, dyslipidemia, low glucose tolerance, and slight deficits in very specific domains of cognition, but no increase in the incidence of mental retardation (3). The typical karyotype is 47,XXY, but chromosome mosaics with 46,XY/47,XXY and complements with multiple X chromosomes like 48,XXXY are known (4).…”

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confidence: 99%

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Occurrence of 47,X,i(X)(q10),Y Klinefelter variant with hypogonadotropic hypogonadism

Sabbaghian

Meybodi

Rahimian

et al. 2011

Fertility and Sterility

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Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 99%

Occurrence of 47,X,i(X)(q10),Y Klinefelter variant with hypogonadotropic hypogonadism

Sabbaghian

Meybodi

Rahimian

et al. 2011

Fertility and Sterility

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“…Die inkomplette Inaktivierung eines der beiden Zentromere wurde als häufi-ge Ursache für die Entstehung von 45,X/ 46,X,i(Xq)-Mosaiken diskutiert [9]. Bei einem Mann mit einem 47,XY,i(X)(q10)-Karyotyp wurde gezeigt, dass das zusätz-liche Isochromosom postmeiotisch nach einer maternalen Meiose-II-Nondisjunction entstanden war [5]. Für die Enstehungsmechanismen chromosomaler Mosaike s. auch den Beitrag von Liehr in diesem Heft.…”

Section: Entstehungsmechanismenunclassified

Gonosomale Mosaike

Spreiz

Kotzot

2014

Medizinische Genetik

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Zusammenfassung Aberrationen der Geschlechtschromosomen sind mit einer Inzidenz von ca. 0,2 % bei Neugeborenen von großer Relevanz. Häufig liegen sie in Form von numerischen und/oder strukturellen Mosaiken vor. Vor allem aufgrund der variablen Verteilung in verschiedenen Geweben ist die Genotyp-Phänotyp-Korrelation schwierig, was besonders bei pränatalen Befunden eine große Herausforderung darstellt und eine genetische Beratung erforderlich macht. Gonosomale Mosaike führen im weiblichen Geschlecht häufig zu den klinischen Symptomen des Turner-Syndroms (v. a. Kleinwuchs und Infertilität) einem potentiell erhöhten Gonadoblastomrisiko bei Vorhandensein einer XY-Zelllinie. Im männlichen Geschlecht sind Klinefelter-Mosaike ebenfalls häufig (bis ca. 20 %). Mosaike für die Karyotypen 47,XXX und 47,XYY werden seltener beobachtet; dies dürfte auch durch den geringen Krankheitswert und die daraus seltener resultierende Untersuchungsindikation begründet sein.

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“…Arps et al [1996] proposed that the most probable origin of an additional isochromosome Xq is a misdivision of the centromere or a sister-chromatid exchange of one X chromosome. Höckner et al [2008] investigated a male patient with a 47,X,idic(X)(p11.1),Y karyotype and found loss of heterozygosity for all informative Xq markers on the isochromosome and the presence of the other maternal allele on the normal homolog in each case of maternal heterozygosity. These results are in line with a maternal origin of a true dicentric isochromosome and not a maternal Xq/ Xq translocation, and most likely postzygotic formation subsequent to a nondisjunction in maternal meiosis II [Höckner et al, 2008].…”

Section: Klinefelter Patients With An Additional Isochromosome Xqmentioning

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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Unravelling the parental origin and mechanism of formation of the 47,XY,i(X)(q10) Klinefelter karyotype variant

Cited by 14 publications

References 18 publications

Occurrence of 47,X,i(X)(q10),Y Klinefelter variant with hypogonadotropic hypogonadism

Occurrence of 47,X,i(X)(q10),Y Klinefelter variant with hypogonadotropic hypogonadism

Gonosomale Mosaike

Chromosomal Variants in Klinefelter Syndrome

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