A de novo 8q22.2-24.3 duplication in a patient with mild phenotype

European Journal of Medical Genetics

Volumn 55, Issue 1, 2012, Pages 67-70

  Concolino, D ^a   Iembo, M A ^a   Moricca, M T ^a   Rapsomaniki, M ^a   Marotta, R ^a   Galesi, O ^b   Fichera, M ^b   Romano, C ^b   Strisciuglio, P ^a  

^a UNIVERSITY MAGNA GRAECIA OF CATANZARO   (Italy)

^b OASI RESEARCH INSTITUTE IRCCS   (Italy)

Author keywords

8q22.2 8q24.3; Partial duplication 8q

Indexed keywords

ALANINE AMINOTRANSFERASE; ASPARTATE AMINOTRANSFERASE;

ARTICLE; BODY DYSMORPHIC DISORDER; CASE REPORT; CHILD; CHROMOSOME 8Q; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CHROMOSOME DUPLICATION; CLINICAL FEATURE; CLINODACTYLY; CONGENITAL HEART DISEASE; CRYPTORCHISM; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; HYPOPLASIA; MALE; MENTAL DEFICIENCY; NEUROPSYCHIATRY; PHYSICAL EXAMINATION; SCHOOL CHILD; SHORT STATURE; SYNDACTYLY; UMBILICAL HERNIA;

ABNORMAL KARYOTYPE; ABNORMALITIES, MULTIPLE; CHILD; CHILD, PRESCHOOL; CHROMOSOME DUPLICATION; CHROMOSOME PAINTING; CHROMOSOMES, HUMAN, PAIR 8; DNA PROBES; HUMANS; INFANT; MALE; PHENOTYPE; TRISOMY;

EID: 84857190059     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2011.09.001     Document Type: Article

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