Trisomy of chromosome 16p13.3 due to an unbalanced insertional translocation into chromosome 22p13

European Journal of Medical Genetics

Volumn 48, Issue 3, 2005, Pages 355-359

  De Ravel, Thomy ^a   Aerssens, Peter ^b   Vermeesch, Joris R ^a   Fryns, Jean Pierre ^a  

^a UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^b Virga Jesse Hasselt   (Belgium)

Author keywords

Array CGH; Comparative genomic hybridisation; Duplication chromosome 16p; Insertional translocation; Micro arrays; Trisomy 16p13.3

Indexed keywords

ANAMNESIS; ARTICLE; CASE REPORT; CHROMOSOME 16P; CHROMOSOME 22; CHROMOSOME 22P; CHROMOSOME ARM; CHROMOSOME DUPLICATION; CLEFT PALATE; CLINICAL FEATURE; CLUBFOOT; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; EAR; FACE DYSMORPHIA; GENE ASSIGNMENT; HUMAN; HYPERTELORISM; INSERTIONAL CHROMOSOME TRANSLOCATION; KARYOTYPE 46,XY; LABORATORY TEST; MALE; MENTAL DEFICIENCY; MICROGNATHIA; PHENOTYPE; PHILTRUM; PRESCHOOL CHILD; PSYCHOMOTOR RETARDATION; SEIZURE; TRISOMY 16; UPPER LIP;

ABNORMALITIES, MULTIPLE; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 16; CHROMOSOMES, HUMAN, PAIR 22; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; MENTAL RETARDATION; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; TRANSLOCATION, GENETIC; TRISOMY;

EID: 25144513402     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2005.05.009     Document Type: Article

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