Tremor in 48,XXYY syndrome

Tartaglia, Nicole; Borodyanskya, Mariya; Hall, Deborah A.

doi:10.1002/mds.22700

Cited by 28 publications

(38 citation statements)

References 27 publications

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“…subjects with this syndrome were identified in our study. The frequency of 48, XXYY increases to 1 in 2500 in infertile men, so the higher incidence in our study compared to that of Tartaglia et al (2009) is not surprising given that our study focused on infertile males. The pathogenesis of this rare karyotype is complicated and may result from the nondisjunction of primary spermatocyte in meiosis I followed by the nondisjunction of sister chromatids in meiosis II or from the combination of an aneuploidy gamete derived from nondisjunction of secondary spermatocytes and maternal secondary oocytes (Kleiman et al, 1999).…”

Section: Discussionmentioning

confidence: 48%

Infertility caused by male partners with genetic defects in Sichuan Province of China

Quan

Li²,

Ding³

et al. 2013

Genet. Mol. Res.

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ABSTRACT. The purpose of this study was to detect chromosomal aberrations and azoospermia factor (AZF) microdeletions in male patients with reproductive problems and to summarize related clinical features to provide reliable information for evaluating prenatal and preimplantation diagnoses. A large cohort of 5083 men with various phenotypes of male infertility was analyzed via G-banding karyotyping, and Origin 8.0 was used to analyze the prevalence of abnormalities. Additionally, patients with azoospermia, oligozoospermia, and oligoasthenozoospermia were analyzed using multiplex polymerase chain reaction to detect microdeletion in the AZF. We identified 387 patients with abnormal karyotypes, and the ratio was 7.61%. Among them were 175 patients with Klinefelter's syndrome, which was the most common numerical chromosomal abnormality and accounted for 45.22% of all chromosomal aberrations. The frequencies of increased satellites, balanced translocations, and Robertsonian translocations were 6.47, 7.00, and 3.62%, respectively. Multiplex polymerase chain reaction performed in 810 cases with azoospermia, oligozoospermia, and oligoasthenozoospermia found a ratio of AZF microdeletions of 4.94%. The finding suggests that chromosomal 6513 ©FUNPEC-RP www.funpecrp.com.br Genetics and Molecular Research 12 (4): 6512-6520 (2013) Infertility and genetic defects in Chinese male partners abnormalities and AZF deletion are main factors that result in male infertility. Detecting these common genetic variations is necessary in infertile men seeking assisted reproductive technology.

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Section: Discussionmentioning

confidence: 48%

Infertility caused by male partners with genetic defects in Sichuan Province of China

Quan

Li²,

Ding³

et al. 2013

Genet. Mol. Res.

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“…Among 10 tremulous patients with the syndrome aged 13–26 years, the tremor was upper limb postural and kinetic in all cases; only one had an intention tremor 2. Intriguingly, half of these patients had a family history of tremor.…”

Section: Discussionmentioning

confidence: 95%

“…This suggests that the tremor reflects overexpression of genes homologous to the X and Y chromosomes (ie, their pseudoautosomal regions), although an additional X may be less tremorgenic 2 5…”

Section: Discussionmentioning

confidence: 99%

“…Since its first description in 1964, there have been around 200 patients reported in the literature. The phenotype includes tall stature, hypergonadotropic hypogonadism and micro-orchidism 2. This report aims to bring the syndrome to the attention of neurologists and to prompt genetic testing in male patients presenting with tremor at a young age, particularly when it is associated with tall stature, learning or behavioural disorders and dental problems.…”

Section: Introductionmentioning

confidence: 99%

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48, XXYY syndrome associated tremor

Lote¹,

Fuller²,

Bain³

2013

Pract Neurol

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48, XXYY syndrome is a form of sex chromosome aneuploidy that affects between 1 in 18 000 to 1 in 40 000 males. It is not inherited and is diagnosed by karyotyping. It has similarities to 47, XXY Klinefelter's syndrome, with tall stature, micro-orchidism, hypergonadotropic hypogonadism and infertility in males. However, patients with 48, XXYY syndrome also commonly have dental problems, tremor, attention deficit disorder, learning difficulties, allergies and asthma. The tremor is typically reported as an intention tremor (in 71% of patients XXYY aged >20 years with 48), which becomes more common with age and worsens over time.

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“…The group found common medical problems including allergies and asthma, congenital heart defects, radioulnar synostosis, inguinal hernia and/or cryptorchidism, and seizures in the patients [Tartaglia et al, 2008]. In the adulthood, medical features like hypogonadism, deep vein thrombosis, intention tremor, and type II diabetes were found [Tartaglia et al, 2008[Tartaglia et al, , 2009. In the same year, Zhang and Li [2009] reported a case with 48,XXYY karyotype.…”

Section: Other Numeric Sex Chromosome Abnormalitiesmentioning

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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Tremor in 48,XXYY syndrome

Cited by 28 publications

References 27 publications

Infertility caused by male partners with genetic defects in Sichuan Province of China

Infertility caused by male partners with genetic defects in Sichuan Province of China

48, XXYY syndrome associated tremor

Chromosomal Variants in Klinefelter Syndrome

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