Novel, case of del(17)(q23.1q23.3) Further highlights a recognizable phenotype involving deletions of chromosome (17) (q21q24)

American Journal of Medical Genetics

Volumn 71, Issue 3, 1997, Pages 275-279

  Mickelson, E C R ^a   Robinson, W P ^a   Hrynchak, M A ^a   Lewis, M E S ^a  

^a BC CHILDREN S HOSPITAL   (Canada)

Author keywords

Angelman Syndrome; Apolipoprotein H; Chromosome 17; Contiguous gene syndrome; Interstitial deletion

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 17Q; CYTOGENETICS; FEMALE; GENE DELETION; HAPPY PUPPET SYNDROME; HUMAN; HUMAN CELL; HUMAN TISSUE; KARYOTYPE; MOLECULAR GENETICS; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL;

ANGELMAN SYNDROME; CHILD; CHROMOSOME BANDING; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 17; DEVELOPMENTAL DISABILITIES; DIAGNOSIS, DIFFERENTIAL; FEMALE; HAND DEFORMITIES, CONGENITAL; HUMANS; PHENOTYPE;

EID: 0030792404     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19970822)71:3<275::AID-AJMG5>3.0.CO;2-T     Document Type: Article

References (6)