PMID- 9628198
OWN - NLM
STAT- MEDLINE
DCOM- 19980813
LR  - 20190909
IS  - 0387-7604 (Print)
IS  - 0387-7604 (Linking)
VI  - 20
IP  - 3
DP  - 1998 Apr
TI  - Isolated lissencephaly sequence with balanced chromosome translocation involving 
      17p13.3.
PG  - 190-2
AB  - We describe a patient with isolated lissencephaly sequence (ILS) who had a de 
      novo balanced translocation with breakpoint at 8p11.23 and 17p13.3. She developed 
      infantile spasms and had severe developmental delay. There was no apparent 
      deletion of 17p13.3 on fluorescence in situ hybridization (FISH) analysis. The 
      breakpoint was located centromeric to the Miller-Dieker syndrome (MDS) marker 
      (D17S379), and telomeric to the marker D17S1566, which is located centromeric to 
      the LIS1 gene. This is the second reported case of ILS with balanced 
      translocation. It is suspected that the breakpoint of 17p13.3 in this patient is 
      located in the responsible gene for ILS.
FAU - Honda, A
AU  - Honda A
AD  - Division of Pediatrics, Toyonaka City Hospital, Osaka, Japan.
FAU - Ono, J
AU  - Ono J
FAU - Kurahashi, H
AU  - Kurahashi H
FAU - Mano, T
AU  - Mano T
FAU - Imai, K
AU  - Imai K
FAU - Okada, S
AU  - Okada S
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Netherlands
TA  - Brain Dev
JT  - Brain & development
JID - 7909235
SB  - IM
MH  - Brain/*abnormalities/pathology
MH  - *Chromosomes, Human, Pair 17
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Magnetic Resonance Imaging
MH  - *Translocation, Genetic
EDAT- 1998/06/17 00:00
MHDA- 1998/06/17 00:01
CRDT- 1998/06/17 00:00
PHST- 1998/06/17 00:00 [pubmed]
PHST- 1998/06/17 00:01 [medline]
PHST- 1998/06/17 00:00 [entrez]
AID - S0387760498000187 [pii]
AID - 10.1016/s0387-7604(98)00018-7 [doi]
PST - ppublish
SO  - Brain Dev. 1998 Apr;20(3):190-2. doi: 10.1016/s0387-7604(98)00018-7.