ISSN:0148-7299    

DOI:10.1002/ajmg.1320450133

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1993

数据来源: WILEY

ISSN:0148-7299    

DOI:10.1002/ajmg.1320450134

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1993

数据来源: WILEY

ISSN:0148-7299    

DOI:10.1002/ajmg.1320450135

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1993

数据来源: WILEY

摘要:

AbstractDetection of the supernumerary isochromosome 12p [i(12p)] was performed on buccal smear preparations from 2 patients with Pallister‐Killian syndrome, 21 (patient 1) and 15 months (patient 2) old, by interphase fluorescencein situhybridization (FISH) using a chromosome 12‐specific alpha satellite probe. Isochromosome 12p‐positive cells were identified by observing 3 signals over the nucleus, while diploid cells had 2 signals. The proportion of i(12p)‐positive cells thus identified was high in the epithlial cells of buccal mucosa at 68 and 53% from patients 1 and 2, respectively. Further, the frequencies of i(12p)‐positive cells were also studied in PHA‐stimulated peripheral lymphocytes, cultured skin fibroblasts (both patients), and directly harvested T and B‐cells (patient 1). Of these tissues, buccal mucosa showed the highest proportion of i(12p)‐positive cells. These findings indicate that epithelial cells of buccal mucosa are likely to retain i(12p)‐positive cells. Detection of i(12p) using direct buccal smear preparations by interphase FISH is a rapid, effective and non‐invasive method for confirming the diagnosis of the Pallister‐Killian syndrome.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320450136

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1993

数据来源: WILEY

ISSN:0148-7299    

DOI:10.1002/ajmg.1320450137

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1993

数据来源: WILEY

ISSN:0148-7299    

DOI:10.1002/ajmg.1320450102

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1993

数据来源: WILEY