Classical west "syndrome" phenotype with a subtelomeric 4p trisomy

American Journal of Medical Genetics

Volumn 130 A, Issue 3, 2004, Pages 299-302

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

^a CENTRE HOSPITALIER INTERCOMMUNAL DE CRÉTEIL   (France)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

^c ARMAND TROUSSEAU HOSPITAL   (France)

^d HÔPITAL ROBERT DEBRÉ   (France)

Author keywords

Cytogenetics; Facial dysmorphism; FISH; Infantile spasms; Karyotype; Mental retardation; West syndrome

Indexed keywords

CORTICOTROPIN;

ADULT; ARTICLE; BEHAVIOR DISORDER; CASE REPORT; CHROMOSOME 17Q; CHROMOSOME 4P; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CHROMOSOME TRANSLOCATION; CLINICAL FEATURE; DISEASE COURSE; EPILEPSY; FACE DYSMORPHIA; FEMALE; HUMAN; HUMAN CELL; HYPSARRHYTHMIA; INFANTILE SPASM; KARYOTYPING; MALE; MENTAL DEFICIENCY; PRIORITY JOURNAL; SCHOOL CHILD; TELOMERE; TRISOMY; TRISOMY 4; WEST SYNDROME;

ABNORMALITIES, MULTIPLE; CHILD; CHILD, PRESCHOOL; CHROMOSOME BANDING; CHROMOSOMES, HUMAN, PAIR 4; FEMALE; FOLLOW-UP STUDIES; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; KARYOTYPING; MENTAL RETARDATION; PHENOTYPE; SPASMS, INFANTILE; SYNDROME; TELOMERE; TRISOMY;

EID: 4744376183     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30314     Document Type: Article

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