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Akademický článek

A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype

Autor: Hanchard Neil A, Carvalho Claudia MB, Bader Patricia, Thome Aaron, Omo-Griffith Lisa, del Gaudio Daniela, Pehlivan Davut, Fang Ping, Schaaf Christian P, Ramocki Melissa B, Lupski James R, Cheung Sau Wai

Publikováno v: BMC Medical Genetics, Vol 13, Iss 1, p 71 (2012)

Abstract Background Duplications of the X-linked MECP2 gene are associated with moderate to severe intellectual disability, epilepsy, and neuropsychiatric illness in males, while triplications are associated with a more severe phenotype. Most carrier

Externí odkaz: https://doaj.org/article/43f74174420b48d8a9087be59cad10cf

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Akademický článek

Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders

Autor: Celestino-Soper Patrícia BS, Skinner Cindy, Schroer Richard, Eng Patricia, Shenai Jayant, Nowaczyk Malgorzata MJ, Terespolsky Deborah, Cushing Donna, Patel Gayle S, Immken LaDonna, Willis Alecia, Wiszniewska Joanna, Matalon Reuben, Rosenfeld Jill A, Stevenson Roger E, Kang Sung-Hae L, Cheung Sau, Beaudet Arthur L, Stankiewicz Pawel

Publikováno v: Molecular Cytogenetics, Vol 5, Iss 1, p 17 (2012)

Abstract Interstitial deletions of the short arm of chromosome 6 are rare and have been associated with developmental delay, hypotonia, congenital anomalies, and dysmorphic features. We used array comparative genomic hybridization in a South Carolina

Externí odkaz: https://doaj.org/article/6b33cf3605f24009b5cbbc295234f8e2

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Akademický článek

Mosaicism for r(X) and der(X)del(X)(p11.23)dup(X)(p11.21p11.22) provides insight into the possible mechanism of rearrangement

Autor: Fang Ping, Brown Chester W, Yatsenko Svetlana A, Peacock Sandra, Ou Zhishuo, Cooper M Lance, Shchelochkov Oleg A, Stankiewicz Pawel, Cheung Sau

Publikováno v: Molecular Cytogenetics, Vol 1, Iss 1, p 16 (2008)

Abstract We report a patient with a unique and complex cytogenetic abnormality involving mosaicism for a small ring X and deleted Xp derivative chromosome with tandem duplication at the break point. The patient presented with failure to thrive, muscu

Externí odkaz: https://doaj.org/article/29799f151d6942a7bb6472e7cea0b86c

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