Classical West "syndrome" phenotype with a subtelomeric 4p trisomy.

Gérard-Blanluet, Marion; Romana, S; Munier, C; Le Lorc'h, M; Kanafani, S; Sinico, M; Touboul, C; Levaillant, J M; Haddad, B; Lopez, N; Lelong, F; De Villemeur, T Billette; Verloes, A; Borghi, E

Gérard-Blanluet, Marion; Romana, S; Munier, C; Le Lorc'h, M; Kanafani, S; Sinico, M; Touboul, C; Levaillant, J M; Haddad, B; Lopez, N; Lelong, F; De Villemeur, T Billette; Verloes, A; Borghi, E.

Affiliation

Gérard-Blanluet M; Department of Neonatalogy, Clinical Genetics, Centre Hospitalier Intercommunal, Créteil, France. marion.gerard@chicreteil.fr

Am J Med Genet A ; 130A(3): 299-302, 2004 Oct 15.

Article in En | MEDLINE | ID: mdl-15378535

Subject(s)

Abnormalities, Multiple/genetics; Chromosomes, Human, Pair 4/genetics; Spasms, Infantile/pathology; Telomere/genetics; Trisomy; Abnormalities, Multiple/pathology; Child; Child, Preschool; Chromosome Banding; Female; Follow-Up Studies; Humans; In Situ Hybridization, Fluorescence; Infant; Intellectual Disability/pathology; Karyotyping; Phenotype; Syndrome

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Collection: 01-internacional Database: MEDLINE Main subject: Spasms, Infantile / Trisomy / Abnormalities, Multiple / Chromosomes, Human, Pair 4 / Telomere Type of study: Observational_studies / Prognostic_studies Limits: Child / Child, preschool / Female / Humans / Infant Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2004 Type: Article Affiliation country: France

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