8p23.1 duplication syndrome; common, confirmed, and novel features in six further patients.

Barber, John C K; Rosenfeld, Jill A; Foulds, Nicola; Laird, Sophie; Bateman, Mark S; Thomas, N Simon; Baker, Samantha; Maloney, Viv K; Anilkumar, Arayamparambil; Smith, Wendy E; Banks, Valerie; Ellingwood, Sara; Kharbutli, Yara; Mehta, Lakshmi; Eddleman, Keith A; Marble, Michael; Zambrano, Regina; Crolla, John A; Lamb, Allen N

Barber, John C K; Rosenfeld, Jill A; Foulds, Nicola; Laird, Sophie; Bateman, Mark S; Thomas, N Simon; Baker, Samantha; Maloney, Viv K; Anilkumar, Arayamparambil; Smith, Wendy E; Banks, Valerie; Ellingwood, Sara; Kharbutli, Yara; Mehta, Lakshmi; Eddleman, Keith A; Marble, Michael; Zambrano, Regina; Crolla, John A; Lamb, Allen N.

Affiliation

Barber JC; Faculty of Medicine, Department of Human Genetics and Genomic Medicine, University of Southampton, Southampton General Hospital, Southampton, UK. john.barber@soton.ac.uk

Am J Med Genet A ; 161A(3): 487-500, 2013 Mar.

Article in En | MEDLINE | ID: mdl-23345203

Subject(s)

Abnormalities, Multiple/diagnosis; Developmental Disabilities/diagnosis; Learning Disabilities/diagnosis; Trisomy/diagnosis; Abnormal Karyotype; Abnormalities, Multiple/genetics; Adult; Child; Chromosomes, Human, Pair 8/genetics; Comparative Genomic Hybridization; Developmental Disabilities/genetics; Female; Humans; Infant; Learning Disabilities/genetics; Male; Syndrome; Trisomy/genetics

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Trisomy / Abnormalities, Multiple / Developmental Disabilities / Learning Disabilities Type of study: Risk_factors_studies Limits: Adult / Child / Female / Humans / Infant / Male Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2013 Type: Article Affiliation country: United kingdom

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