The XXYY Chromosome Constitution

Waterman, Donald F.; London, John; Valdmanis, Aina; Mann, Joseph D.

doi:10.1001/archpedi.1966.02090070119019

Cited by 10 publications

(1 citation statement)

References 11 publications

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“…A total of twelve 48,XXYY patients have been typed and ten were Xg-positive (Race & Sanger 1968, Waterman et al 1966, Garcia, Borgaonkar & Richardson 1967. The distribution of the Xga gene appears to fit the female distribution (Race & Sanger 1968) but only two cases (Nos.…”

Section: Xg Blood Groupmentioning

confidence: 99%

Do the 48, XXYY males have a characteristic phenotype? A Review

1970

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Data on fifty‐three patients with 48, XXYY chromosome complement were collected from the literature and personal correspondence and reviewed with the objective of delineating a ‘uniform phenotype.’ Although no single stigma was found to be characteristic of the 48, XXYY males, tall stature, low upper segment/lower segment ratio, mental retardation, and behavior problems in a phenotypic male (including prepubertal age group) should raise the question of a 48, XXYY chromosome basic defect. In the majority of cases testicular biopsies revealed varying degrees of atrophy, levels of FSH were elevated, and 17 KS were low to normal, both characteristics being comparable to those found in 47, XXY males. Dermatoglyphic changes were found to be reduced total finger ridge count, increased frequency of arches on fingers, presence of a hypothenar pattern, distally placed triradius, and occasional qimian crease.

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Section: Xg Blood Groupmentioning

confidence: 99%

Do the 48, XXYY males have a characteristic phenotype? A Review

1970

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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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Autoradiography in Human Cytogenetics

Miller

1970

Advances in Human Genetics 1

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The XXYY Chromosome Constitution

Cited by 10 publications

References 11 publications

Do the 48, XXYY males have a characteristic phenotype? A Review

Do the 48, XXYY males have a characteristic phenotype? A Review

A new look at XXYY syndrome: Medical and psychological features

Autoradiography in Human Cytogenetics

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