The Pallister-Killian syndrome is reliably diagnosed by FISH on buccal mucosa

Clinical Dysmorphology

Volumn 9, Issue 3, 2000, Pages 163-165

  Manasse, Bridget F ^a   Lekgate, Nakedi ^a   Pfaffenzeller, Wilma M ^a   De Ravel, Thomy J L ^a,b  

^a UNIVERSITY OF THE WITWATERSRAND   (South Africa)

^b NATIONAL HEALTH LABORATORY SERVICE   (South Africa)

Author keywords

Buccal mucosa; FISH; Isochromosome 12p; Pallister Killian syndrome

Indexed keywords

ARTICLE; AUTOSOME MOSAICISM; CASE REPORT; CHEEK MUCOSA; CHROMOSOME 12P; CONTROLLED STUDY; DIAGNOSTIC VALUE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; HUMAN TISSUE; ISOCHROMOSOME; PALLISTER KILLIAN SYNDROME; PRIORITY JOURNAL;

EID: 0033918550     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019605-200009030-00002     Document Type: Article

References (6)

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2. Mark HFL, Mills DR, Kim E, Santoro K, Quddus MR, Lathrop JC (1996). Fluorescent in situ hybridization assessment of chromosome copy number in buccal mucosal cells. Cytobios 87:117-126.
3. Ohashi H, Ishikiriyama S, Fukushima Y (1993). New diagnostic method for Pallister-Killian syndrome: Detection of i(12p) in interphase nuclei of buccal mucosa by fluorescence in situ hybridization. Am J Med Genet 45:123-128.
4. Pallister PD, Meisner LF, Elejalde BR, Francke U, Herrmann J, Spranger J, Tiddy W, Inborn SL, Opitz JM (1977). The Pallister Mosaic Syndrome. Birth Defects 13:103-110.
5. Schinzel A (1991). Tetrasomy 12p (Pallister-Killian syndrome). J Med Genet 28:122-125.
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