PMID- 11769470
OWN - NLM
STAT- MEDLINE
DCOM- 20020104
LR  - 20061115
IS  - 0047-1860 (Print)
IS  - 0047-1860 (Linking)
VI  - 49
IP  - 10
DP  - 2001 Oct
TI  - [A case of 9p-syndrome identified chromosome 20 on chromosome 9p by M-FISH].
PG  - 1045-8
AB  - In this report, we describe one-year-old girl diagnosed with 9p-syndrome. 
      Cytogenetic studies of this patient confirmed a karyotype of 46,XX,add(9) (p24) 
      chromosome, but could not find the additional fragment on 9p22 in one allele. 
      Fluorescence in situ hybridization (FISH) studies could not confirm the fragment 
      in the patient using the LIS1 gene probe which mapped to 9p22. The more recently 
      developed M-FISH method clearly showed that the additional fragment was 20p in 
      this patient. These findings suggest that M-FISH analysis may be a useful method 
      for identifying unknown additional and rearranged chromosomes.
FAU - Koseki, N
AU  - Koseki N
AD  - Clinical Labratory, Tohoku University Hospital, Sendai 980-8574.
FAU - Obara, Y
AU  - Obara Y
FAU - Ookawa, A
AU  - Ookawa A
FAU - Katsumi, M
AU  - Katsumi M
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
SB  - IM
MH  - Abnormalities, Multiple/*genetics
MH  - Chromosome Deletion
MH  - Chromosomes, Human, Pair 20/*genetics
MH  - Chromosomes, Human, Pair 9/*genetics
MH  - Craniofacial Abnormalities/genetics
MH  - Diagnosis, Differential
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Syndrome
EDAT- 2002/01/05 10:00
MHDA- 2002/01/10 10:01
CRDT- 2002/01/05 10:00
PHST- 2002/01/05 10:00 [pubmed]
PHST- 2002/01/10 10:01 [medline]
PHST- 2002/01/05 10:00 [entrez]
PST - ppublish
SO  - Rinsho Byori. 2001 Oct;49(10):1045-8.