Dysmorphic features and learning disability in an adult male with pure partial trisomy 17q24-q25 due to a terminal duplication

American Journal of Medical Genetics

Volumn 112, Issue 2, 2002, Pages 217-220

  Kelly, Brendan D ^a,f   Becker, Kristin ^b,c   Kermode, Victoria ^b   Stallings, Raymond L ^b,d   Murphy, Raymond P ^e   Green, Andrew J ^b,d   Hillery, John ^a  

^a Stewarts Hospital   (Ireland)

^b OUR LADY S CHILDREN S HOSPITAL   (Ireland)

^c EALING HOSPITAL NHS TRUST   (United Kingdom)

^d UNIVERSITY COLLEGE DUBLIN   (Ireland)

^e ADELAIDE AND MEATH HOSPITAL   (Ireland)

^f Cluain Mhuire Family Centre   (Ireland)

Author keywords

Chromosome 17; Duplication; Partial trisomy 17q

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CHROMOSOME 17; CHROMOSOME 17Q; CHROMOSOME ANALYSIS; CHROMOSOME DUPLICATION; CHROMOSOME MAP; CLEFT PALATE; EPILEPSY; FACE DYSMORPHIA; FINGER MALFORMATION; FRONTAL BOSSING; HEMIZYGOSITY; HUMAN; HUMAN CELL; JOINT LAXITY; LEARNING DISORDER; MALE; MICROCEPHALY; PARTIAL TRISOMY; PARTIAL TRISOMY 17Q; PERCEPTION DEAFNESS; PHENOTYPE; POLYDACTYLY; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; SHORT STATURE;

ABNORMALITIES, MULTIPLE; ADULT; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 17; GENE DUPLICATION; HUMANS; INFANT; LEARNING DISORDERS; MALE;

EID: 0036808806     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.10626     Document Type: Article

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