Apparent Sotos syndrome (cerebral gigantism) in a child with trisomy 20p11.2-p12.1 mosaicism.

Faivre, L; Viot, G; Prieur, M; Turleau, C; Gosset, P; Romana, S; Munnich, A; Vekemans, M; Cormier-Daire, V

Faivre, L; Viot, G; Prieur, M; Turleau, C; Gosset, P; Romana, S; Munnich, A; Vekemans, M; Cormier-Daire, V.

Affiliation

Faivre L; Département de Génétique, Hôpital des Enfants Malades, Paris, France.

Am J Med Genet ; 91(4): 273-6, 2000 Apr 10.

Article in En | MEDLINE | ID: mdl-10766982

Subject(s)

Brain Diseases/genetics; Chromosomes, Human, Pair 20/genetics; Craniofacial Abnormalities/genetics; Gigantism/genetics; Mosaicism; Trisomy; Adult; Brain Diseases/diagnosis; Child, Preschool; Chromosome Mapping; Craniofacial Abnormalities/diagnosis; Female; Gigantism/diagnosis; Humans; In Situ Hybridization, Fluorescence; Infant, Newborn; Karyotyping; Male; Microsatellite Repeats; Pregnancy; Syndrome

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Database: MEDLINE Main subject: Trisomy / Chromosomes, Human, Pair 20 / Brain Diseases / Craniofacial Abnormalities / Gigantism / Mosaicism Type of study: Diagnostic_studies Limits: Adult / Child, preschool / Female / Humans / Male / Newborn / Pregnancy Language: En Journal: Am J Med Genet Year: 2000 Type: Article Affiliation country: France

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