Mosaic supernumerary r(1)(p13.2q23.3) in a 10-year-old girl with epilepsy facial asymmetry psychomotor retardation kyphoscoliosis dermatofibrosarcoma and multiple exostoses.

Chen, C P; Lin, S P; Chen, M; Su, Y N; Chern, S R; Wang, T Y; Liu, Y P; Tsai, F J; Lee, C C; Chen, Y J; Wang, W

Chen, C P; Lin, S P; Chen, M; Su, Y N; Chern, S R; Wang, T Y; Liu, Y P; Tsai, F J; Lee, C C; Chen, Y J; Wang, W.

Affiliation

Chen CP; Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan. cpc_mm@yahoo.com

Genet Couns ; 22(3): 273-80, 2011.

Article in En | MEDLINE | ID: mdl-22029168

Subject(s)

Abnormalities, Multiple; Chromosome Duplication; Chromosomes, Human, Pair 1; Epilepsy/genetics; Exostoses, Multiple Hereditary/genetics; Mosaicism; Ring Chromosomes; Adenosine Deaminase/genetics; Carrier Proteins/genetics; Child; Dermatofibrosarcoma/congenital; Dermatofibrosarcoma/genetics; Facial Asymmetry/genetics; Female; Gene Dosage; Humans; Membrane Transport Proteins; Nerve Tissue Proteins/genetics; Potassium Channels, Inwardly Rectifying/genetics; Psychomotor Disorders/genetics; RNA-Binding Proteins; Receptors, Nicotinic/genetics; Skin Neoplasms/congenital; Skin Neoplasms/genetics; Spinal Curvatures/genetics

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Collection: 01-internacional Database: MEDLINE Main subject: Ring Chromosomes / Abnormalities, Multiple / Chromosomes, Human, Pair 1 / Exostoses, Multiple Hereditary / Epilepsy / Chromosome Duplication / Mosaicism Limits: Child / Female / Humans Language: En Journal: Genet Couns Journal subject: ETICA / GENETICA MEDICA Year: 2011 Document type: Article Affiliation country: Taiwan Country of publication: Switzerland

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