Sex Chromosome Disorders

Virtual Issues
22 September 2020
13 December 2021

49,XXXXY syndrome is a rare sex chromosome aneuploidy that affects 1 in 80,000-100,000 live male births. Research on this disorder has been limited due to the low incidence rate, but this series on more than 75 boys with 49,XXXXY greatly expands on what is known and provides insight on the wide range of capabilities. This collection of articles will benefit healthcare providers and families in helping these individuals achieve optimal outcomes and improved health and wellbeing.

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Introduction: Comprehensive investigation into an international cohort of boys with 49,XXXXY

Carole A. Samango-Sprouse,  Andrea L. Gropman, 
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Musculoskeletal anomalies in a large cohort of boys with 49, XXXXY†

Courtney Sprouse,  Laura Tosi,  Emily Stapleton,  Andrea L. Gropman,  Francie L. Mitchell,  Rick Peret,  Teresa Sadeghin,  Kathryn Haskell,  Carole A. Samango-Sprouse, 
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Behavioral phenotype of 49,XXXXY syndrome: Presence of anxiety-related symptoms and intact social awareness

Patricia C. Lasutschinkow,  Andrea L. Gropman,  Grace F. Porter,  Teresa Sadeghin,  Carole A. Samango-Sprouse, 
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Musculoskeletal abnormalities in a large international cohort of boys with 49,XXXXY

Laura Tosi,  Francie Mitchell,  Grace F. Porter,  Leigh Ruland,  Andrea Gropman,  Patricia C. Lasutschinkow,  Selena L. Tran,  Elmer N. Rajah,  Austin P. Gillies,  Patricia Hendrie,  Rick Peret,  Teresa Sadeghin,  Carole A. Samango-Sprouse, 
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Neurocognitive development and capabilities in boys with 49,XXXXY syndrome

Andrea L. Gropman,  Grace F. Porter,  Patricia C. Lasutschinkow,  Teresa Sadeghin,  Elizabeth S. Tipton,  Sherida Powell,  Carole A. Samango-Sprouse, 
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Evidence of intrauterine growth restriction and growth hormone deficiency in 49,XXXXY syndrome

Debra R. Counts,  Christine Yu,  Patricia C. Lasutschinkow,  Teresa Sadeghin,  Andrea Gropman,  Carole A. Samango-Sprouse, 
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49,XXXXY syndrome: A study of neurological function in this uncommon X and Y chromosomal disorder

Carole Samango-Sprouse,  Patricia C. Lasutschinkow,  Francie Mitchell,  Grace F. Porter,  Patricia Hendrie,  Sherida Powell,  Teresa Sadeghin,  Andrea Gropman, 
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Speech and language development in children with 49,XXXXY syndrome

Carole A. Samango-Sprouse,  Patricia C. Lasutschinkow,  Michael McLeod,  Grace F. Porter,  Sherida Powell,  Jillyan St. Laurent,  Teresa Sadeghin,  Andrea L. Gropman,