Molecular characterisation of a 3.5 Mb interstitial 14q deletion in a child with several phenotypic anomalies.

Journal of medical genetics

Volumn 40, Issue 4, 2003, Pages

  Petek, E ^a   Plecko Startinig, B ^a   Windpassinger, C ^a   Egger, H ^a   Wagner, K ^a   Kroisel, P M ^a  

^a NONE

Author keywords

[No Author keywords available]

Indexed keywords

CASE REPORT; CHROMOSOME 14; CHROMOSOME BANDING PATTERN; CHROMOSOME DELETION; FLUORESCENCE IN SITU HYBRIDIZATION; GENETICS; HUMAN; HYPODONTIA; KARYOTYPING; LETTER; MALE; MICROCEPHALY; MULTIPLE MALFORMATION SYNDROME; OPTIC NERVE ATROPHY; PATHOLOGY; PHENOTYPE; PRESCHOOL CHILD; PSYCHOMOTOR DISORDER;

ABNORMALITIES, MULTIPLE; ANODONTIA; CHILD, PRESCHOOL; CHROMOSOME BANDING; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 14; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; MALE; MICROCEPHALY; OPTIC ATROPHY; PHENOTYPE; PSYCHOMOTOR DISORDERS;

EID: 0037389383     PISSN: None     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.40.4.e47     Document Type: Letter

References (0)