48,XXYY

Article Title: A New Look at XXYY Syndrome: Medical and Psychological Features

Authors: Nicole Tartaglia, Shanlee Davis, Alison Hench, Sheela Nimishakavi, Renee Beauregard, Ann Reynolds, Laura Fenton, Lindsey Albrecht, Judith Ross, Jeannie Visootsak, Robin Hansen, and Randi Hagerman

Date of Publication: March 2008

“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.”

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Article Title: Tremor in 48,XXYY Syndrome

Authors: Nicole Tartaglia, MD, Mariya Borodyanskya, BA and Deborah A. Hall, MD, PhD

Date of Publication: October 15, 2009

“The 48,XXYY syndrome is a form of sex chromosome aneuploidy presenting in 1:18,000 males. Tremor has been previously reported in 47,XXY and 47,XYY syndromes, but has not been well described in 48,XXYY syndrome. Ten males with 48,XXYY syndrome had a standardized neurological examination and videotaping, which included the Clinical Rating Scale for Tremor and the International Cooperative Ataxia Rating Scale. All 10 cases had postural and kinetic tremor on physical examination. Other findings included mild gait ataxia, dysarthria, and nystagmus. Three cases are reviewed. Tremor is a common finding in children and young adults with 48,XXYY syndrome. Dosage alteration of genes on the sex chromosomes may be involved in the pathogenesis of this tremor. Karyotyping should be considered in individuals presenting with tremor and a history of developmental delay, learning disabilities, tall stature, or micro-orchidism.”

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