PMID- 11307315
OWN - NLM
STAT- MEDLINE
DCOM- 20010607
LR  - 20061115
IS  - 0047-1860 (Print)
IS  - 0047-1860 (Linking)
VI  - 49
IP  - 2
DP  - 2001 Feb
TI  - [A case of Miller-Dieker syndrome associated with satellite on chromosome 17p].
PG  - 189-92
AB  - In this report, we describe a one-year-old girl of the Miller-Dieker 
      syndrome(MDS) with lissencephaly, seizures, microcephaly and mental disorders. 
      Cytogenetic studies of this patient confirmed the presence of a 46,XX, 17ps+ 
      chromosome karyotype, but it could not find the microdeletion of 17p13.3. 
      Fluorescence in situ hybridization(FISH) studies confirmed a terminal deletion in 
      the patient using the LIS1 gene probe which mapped to 17p13.3. Further it was 
      also found the satellite on 17p13(17ps) in the patient who was rare associated 
      with MDS. These findings suggest that FISH analysis may be useful method to 
      detect microdeletion of LIS1 gene as 17-specific probe in the investigation of 
      MDS patients.
FAU - Obara, Y
AU  - Obara Y
AD  - Clinical Laboratory, Tohoku University Hospital, Sendai 980-8574.
FAU - Koseki, N
AU  - Koseki N
FAU - Fujiwara, J
AU  - Fujiwara J
FAU - Kikuchi, M
AU  - Kikuchi M
FAU - Miura, T
AU  - Miura T
FAU - Funato, T
AU  - Funato T
FAU - Kaku, M
AU  - Kaku M
LA  - jpn
PT  - Case Reports
PT  - English Abstract
PT  - Journal Article
PL  - Japan
TA  - Rinsho Byori
JT  - Rinsho byori. The Japanese journal of clinical pathology
JID - 2984781R
RN  - 0 (Microtubule-Associated Proteins)
RN  - EC 3.1.1.47 (1-Alkyl-2-acetylglycerophosphocholine Esterase)
RN  - EC 3.1.1.47 (PAFAH1B1 protein, human)
SB  - IM
MH  - 1-Alkyl-2-acetylglycerophosphocholine Esterase
MH  - Brain/*abnormalities
MH  - *Chromosomes, Human, Pair 17
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Microtubule-Associated Proteins/analysis
EDAT- 2001/04/20 10:00
MHDA- 2001/06/08 10:01
CRDT- 2001/04/20 10:00
PHST- 2001/04/20 10:00 [pubmed]
PHST- 2001/06/08 10:01 [medline]
PHST- 2001/04/20 10:00 [entrez]
PST - ppublish
SO  - Rinsho Byori. 2001 Feb;49(2):189-92.