The 48, XXYY syndrome

Parker, Charles E.; Mavalwala, Jamshed; Melnyk, John; Fish, Charles H.

doi:10.1016/s0002-9343(70)80013-4

Cited by 26 publications

(22 citation statements)

References 18 publications

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“…Approximately 100 cases have been reported to date, often characterizing XXYY syndrome as a variant of 47,XXY Klinefelter syndrome due to a shared physical and endocrinologic phenotype including tall stature, microorchidism, hypergonadotropic hypogonadism, and infertility [Borgaonkar et al, 1970]. Although original reports suggested that there were no phenotypic differences from 47,XXY males [Townes et al, 1965], it is now recognized that 48,XXYY differs in its medical, neurodevelopmental, and behavioral characteristics [Parker et al, 1970;Zack, 1980;Grammatico et al, 1990;Linden et al, 1995;Zelante et al, 2003;Tartaglia et al, 2005].…”

Section: Introductionmentioning

confidence: 99%

A new look at XXYY syndrome: Medical and psychological features

Tartaglia

Davis

Hench

et al. 2008

American J of Med Genetics Pt A

142

210

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XXYY syndrome occurs in approximately 1:18,000-1:40,000 males. Although the physical phenotype is similar to 47,XXY (tall stature, hypergonadotropic hypogonadism, and infertility), XXYY is associated with additional medical problems and more significant neurodevelopmental and psychological features. We report on the results of a cross-sectional, multicenter study of 95 males age 1-55 with XXYY syndrome (mean age 14.9 years), describing diagnosis, physical features, medical problems, medications, and psychological features stratified by age groups. The mean age of diagnosis was 7.7 years. Developmental delays and behavioral problems were the most common primary indication for genetic testing (68.4%). Physical and facial features varied with age, although hypertelorism, clinodactyly, pes planus, and dental problems were common across all age groups. Tall stature was present in adolescents and adults, with a mean adult stature of 192.4 cm (SD 7.5; n = 22). Common medical problems included allergies and asthma (>50%), congenital heart defects (19.4%), radioulnar synostosis (17.2%), inguinal hernia and/or cryptorchidism (16.1%), and seizures (15%). Medical features in adulthood included hypogonadism (100%), DVT (18.2%), intention tremor (71%) and type II diabetes (18.2%). Brain MRI (n = 35) showed white matter abnormalities in 45.7% of patients and enlarged ventricles in 22.8%. Neurodevelopmental and psychological difficulties were a significant component of the behavioral phenotype, with developmental delays and learning disabilities universal but variable in severity. Twenty-six percent had full-scale IQs in the range of intellectual disability (MR), and adaptive functioning was significantly impacted with 68% with adaptive composite scores <70. Rates of neurodevelopmental disorders, including ADHD (72.2%), autism spectrum disorders (28.3%), mood disorders (46.8%), and tic disorders (18.9%), were elevated with 55.9% on psychopharmacologic medication overall. Recommendations for evaluation and treatment are summarized.

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Section: Introductionmentioning

confidence: 99%

A new look at XXYY syndrome: Medical and psychological features

Tartaglia

Davis

Hench

et al. 2008

American J of Med Genetics Pt A

142

210

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“…XXYY boys have many of the phenotypic features of Klinefelter syndrome, but differ from Klinefelter syndrome in the greater severity and prevalence of the mental retardation and psychiatric illness [Sorensen and Nielsen, 1978;Cammarata et al, 1999]. They are said to be ''more aggressive,'' more intellectually handicapped and on average taller [Borgaonkar et al, 1970;Parker et al, 1970]. We wish to describe a toddler with 48,XXYY.…”

Section: Clinical Findings and Phenotype In A Toddler With 48xxyy Symentioning

confidence: 99%

Clinical findings and phenotype in a toddler with 48,XXYY syndrome

Demırhan

2003

American J of Med Genetics Pt A

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“…A hormonal study revealed hypogonadism, since testosterone was 0.7 ng/ml (normal range: 4.1-ll.0), dehydroepiandrosterone (DHEA) was below 200 ng/ml (normal range: 500-3,000), and androsterone was 0.068ng/ml (normal range: 0. (2) emphasized that the 48, XXYY syndrome should be classified as a separate entity from Klinefelter's and the XYY syndromes on the basis of physical, dermatographic, mental, and hormonal dif ferences. Physical and laboratory findings of the three syndromes are summarized in Table 1.…”

Section: Case Reportmentioning

confidence: 99%

“…However, several investi gators (2,3) have emphasized that the 48, XXYY syn drome should be classified as a separate entity since there are physical, dermographic, and mental differences from Klinefelter's syndrome. The question of the genetic origin of the extra chromosomes has not been resolved.…”

Section: Introductionmentioning

confidence: 99%

48, XXYY Syndrome Associated with Ethylenediaminetetraacetic Acid(EDTA)-dependent Pseudothrombocytopenia.

et al. 1992

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A 56-yr-old man with hypogonadism, gynecomastia, and mental retardation was evaluated for chromosome constitution and thrombocytopenia. Chromosomal analysis demonstrated the mosaicism of 48, XXYY and 47, XXY in the peripheral lymphocytes. Twenty out of twenty-five cells were 48, XXYY karyotype and the remaining five were 47, XXY karyotype. Thrombo cytopenia was the EDTA-dependent pseudothrombocytopenia type 1 (platelet agglutination). Serological examination suggests that the platelet agglutinin belongs to IgM-kappa type. The present case exhibited both EDTA-dependent pseudothrombocytopenia and the 48, XXYY syndrome. Although this combination may have occurred purely by chance, the possibility of whether or not the mosaicism of lymphocytes produces platelet agglutinin remains to be clarified.

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The 48, XXYY syndrome

Cited by 26 publications

References 18 publications

A new look at XXYY syndrome: Medical and psychological features

A new look at XXYY syndrome: Medical and psychological features

Clinical findings and phenotype in a toddler with 48,XXYY syndrome

48, XXYY Syndrome Associated with Ethylenediaminetetraacetic Acid(EDTA)-dependent Pseudothrombocytopenia.

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