PMID- 8086644
OWN - NLM
STAT- MEDLINE
DCOM- 19941014
LR  - 20111117
IS  - 0916-8478 (Print)
IS  - 0916-8478 (Linking)
VI  - 39
IP  - 2
DP  - 1994 Jun
TI  - Cytogenetic study of a severe case of Pallister-Killian syndrome using 
      fluorescence in situ hybridization.
PG  - 259-67
AB  - Usually, the supernumerary isochromosome 12p characterizing Pallister-Killian 
      syndrome patients was detected in cultured skin fibroblasts but not in cultured 
      blood lymphocytes. The proband of this study was a one-day-old female, who 
      presented with major clinical characteristics of the Pallister-Killian syndrome, 
      and had severe malformations in the form of anal atresia, cleft palate, and 
      severe laryngomalacia. Chromosome preparations from cultured blood lymphocytes 
      and skin fibroblasts, as well as buccal smears, from this patient were analyzed 
      by fluorescence in situ hybridization (FISH) using a chromosome 12-specific alpha 
      satellite probe. The proportions of cells showing positive signals for i(12p) in 
      these samples were found to be 20, 62.5, and 70%, respectively. Repeated FISH 
      studies of buccal smears from this patient showed considerable decreases in the 
      proportions of i(12p) containing cells to 40% at one year of age and to 32% at 
      the age of one year and five months. The decline in the percentage of 
      i(12p)-containing cells in buccal smears with aging supports the concept of in 
      vivo loss of the marker during repeated cell division.
FAU - Gamal, S M
AU  - Gamal SM
AD  - Division of Clinical Genetics, Shizuoka Children's Hospital, Japan.
FAU - Hasegawa, T
AU  - Hasegawa T
FAU - Satoh, H
AU  - Satoh H
FAU - Watanabe, T
AU  - Watanabe T
FAU - Endo, K
AU  - Endo K
FAU - Satoh, Y
AU  - Satoh Y
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Review
PL  - Japan
TA  - Jpn J Hum Genet
JT  - The Japanese journal of human genetics
JID - 9213239
SB  - IM
MH  - Abnormalities, Multiple/*genetics
MH  - Aging/genetics
MH  - Chromosome Aberrations/*genetics
MH  - Chromosome Disorders
MH  - *Chromosomes, Human, Pair 12
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant, Newborn
MH  - Intellectual Disability/genetics
MH  - *Mosaicism
MH  - Syndrome
RF  - 20
EDAT- 1994/06/01 00:00
MHDA- 1994/06/01 00:01
CRDT- 1994/06/01 00:00
PHST- 1994/06/01 00:00 [pubmed]
PHST- 1994/06/01 00:01 [medline]
PHST- 1994/06/01 00:00 [entrez]
AID - 10.1007/BF01876847 [doi]
PST - ppublish
SO  - Jpn J Hum Genet. 1994 Jun;39(2):259-67. doi: 10.1007/BF01876847.