Pallister-Killian syndrome: A mild case diagnosed by fluorescence in situ hybridization. Review of the literature and expansion of the phenotype

American Journal of Medical Genetics

Volumn 65, Issue 2, 1996, Pages 104-108

  Bielanska, Magdalena M ^a   Khalifa, Mohamed M ^a   Duncan, Alessandra M V ^a  

^a QUEEN S UNIVERSITY   (Canada)

Author keywords

chromosome 12; fibroblasts; fluorescence in situ hybridization; hemihypertrophy; isochromosome; Pallister Killian syndrome

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 12P; CHROMOSOME ANALYSIS; CLINICAL FEATURE; DISEASE SEVERITY; FLUORESCENCE IN SITU HYBRIDIZATION; HEMIHYPERTROPHY; HUMAN; ISOCHROMOSOME; MALE; MENTAL DEFICIENCY; PALLISTER KILLIAN SYNDROME; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL;

ADULT; CENTROMERE; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 12; DEVELOPMENTAL DISABILITIES; EYEBROWS; FACE; FEMALE; FIBROBLASTS; HEARING LOSS; HUMANS; HYPERTELORISM; HYPOPIGMENTATION; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT, NEWBORN; KARYOTYPING; LYMPHOCYTES; MALE; PHENOTYPE; PREGNANCY; SYNDROME;

EID: 0029967022     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19961016)65:2<104::AID-AJMG4>3.0.CO;2-S     Document Type: Article

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