PMID- 8418650
OWN - NLM
STAT- MEDLINE
DCOM- 19930203
LR  - 20220321
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 45
IP  - 1
DP  - 1993 Jan 1
TI  - New diagnostic method for Pallister-Killian syndrome: detection of i(12p) in 
      interphase nuclei of buccal mucosa by fluorescence in situ hybridization.
PG  - 123-8
AB  - Detection 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 fluorescence in situ 
      hybridization (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 epithelial 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.
FAU - Ohashi, H
AU  - Ohashi H
AD  - Division of Medical Genetics, Saitama Children's Medical Center, Japan.
FAU - Ishikiriyama, S
AU  - Ishikiriyama S
FAU - Fukushima, Y
AU  - Fukushima Y
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
SB  - IM
MH  - Abnormalities, Multiple/genetics/*pathology
MH  - Cell Nucleus/pathology
MH  - *Chromosomes, Human, Pair 12
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Intellectual Disability/genetics/*pathology
MH  - Interphase/genetics
MH  - Male
MH  - Mouth Mucosa/pathology/ultrastructure
MH  - Syndrome
EDAT- 1993/01/01 00:00
MHDA- 1993/01/01 00:01
CRDT- 1993/01/01 00:00
PHST- 1993/01/01 00:00 [pubmed]
PHST- 1993/01/01 00:01 [medline]
PHST- 1993/01/01 00:00 [entrez]
AID - 10.1002/ajmg.1320450136 [doi]
PST - ppublish
SO  - Am J Med Genet. 1993 Jan 1;45(1):123-8. doi: 10.1002/ajmg.1320450136.