Cerebellar hypoplasia, zonular cataract, and peripheral neuropathy in trisomy 17 mosaicism

American Journal of Medical Genetics

Volumn 130 A, Issue 4, 2004, Pages 410-414

  Terhal, Paulien A ^a   Sakkers, Ralph ^a   Hochstenbach, Ron ^a   Madan, Kamlesh ^b   Rabelink, Gwenda ^a   Sinke, Richard ^a   Giltay, Jacques ^a  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^b VU UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Cerebellar hypoplasia; Trisomy 17 mosaicism; Zonular cataract

Indexed keywords

AMNIOCENTESIS; AMNION CELL; ARTICLE; BIRTH; BLOOD; CASE REPORT; CATARACT; CEREBELLUM HYPOPLASIA; CEREBELLUM VERMIS; CHROMOSOME 17; CHROMOSOME ABERRATION; CLINICAL FEATURE; CYTOGENETICS; DNA DETERMINATION; FIBROBLAST CULTURE; FLUORESCENCE IN SITU HYBRIDIZATION; GROWTH INHIBITION; HUMAN; HYPOPLASIA; KARYOTYPING; MALE; MENTAL DEFICIENCY; MOLECULAR MECHANICS; MOSAICISM; MOTOR NEUROPATHY; PERINATAL PERIOD; PERIPHERAL LYMPHOCYTE; PERIPHERAL NEUROPATHY; PRIORITY JOURNAL; RADIOGRAPHY; SCHOOL CHILD; SENSORY NEUROPATHY; SKIN FIBROBLAST; TRISOMY; TRISOMY 17; ULTRASOUND; UNIPARENTAL DISOMY;

CATARACT; CEREBELLUM; CHILD; CHROMOSOMES, HUMAN, PAIR 17; HUMANS; MALE; MENTAL RETARDATION; MOSAICISM; PERIPHERAL NERVOUS SYSTEM DISEASES; TRISOMY;

EID: 7444233018     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30124     Document Type: Article

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