The Pallister-Killian syndrome in a child with rare karyotype - A diagnostic problem

European Journal of Pediatrics

Volumn 167, Issue 9, 2008, Pages 1063-1065

  Smigiel, Robert ^a   Pilch, Jacek ^b   Makowska, Izabela ^a   Busza, Halina ^a   Slezak, Ryszard ^a   Sasiadek, Maria M ^a  

^a WROCLAW MEDICAL UNIVERSITY   (Poland)

^b MEDICAL UNIVERSITY OF SILESIA   (Poland)

Author keywords

12p mosaic tetrasomy trisomy disomy; 12p mosaic trisomy disomy; Fibroblasts; Lymphocytes; Pallister Killian syndrome; Phenotype

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME ANALYSIS; CLINICAL FEATURE; FEMALE; FIBROBLAST; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; KARYOTYPE; MOSAICISM; OPTICS; PALLISTER KILLIAN SYNDROME; PRESCHOOL CHILD; PRIORITY JOURNAL; TRISOMY;

CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MOSAICISM; PALLISTER-HALL SYNDROME;

EID: 48149107386     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-007-0608-7     Document Type: Article

References (10)

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