PMID- 1363214
OWN - NLM
STAT- MEDLINE
DCOM- 19930324
LR  - 20161013
IS  - 0929-6646 (Print)
IS  - 0929-6646 (Linking)
VI  - 91
IP  - 11
DP  - 1992 Nov
TI  - Mosaic ring chromosome 13 analyzed by fluorescence in situ hybridization: report 
      of a case.
PG  - 1108-11
AB  - A five-year-old boy with psychomotor retardation, microcephaly, bilateral 
      cataracts, hearing impairment and hypospadia with microphallus was found to have 
      multiple cell lines from peripheral blood: 46,XY/46,XY, -13,+r(13)/46, Xy, -13, 
      +dic r(13) in the ratio of 35%/61%/4% by trypsin-Giemsa, and C-bandings. Using 
      fluorescence in situ hybridization (FISH) with biotin-labeled alpha-satellite 
      probe (D21Z1/D13Z1) and fluorescence staining (FITC), we confirmed that the ring 
      originated from chromosome 13. To elucidate changes in the chromosome ends in the 
      ring originated from chromosome 13. To elucidate changes in the chromosome ends 
      in the ring formation, we used human telomere-specific probes for FISH study; it 
      showed an absence of telomeres on the ring chromosome, although Ag-NOR staining 
      was positive. These findings yielded different breaking points on the ends of 
      both the short and long arms of chromosome 13 from those reported in the 
      literature.
FAU - Hou, J W
AU  - Hou JW
AD  - Department of Pediatrics, National Taiwan University Hospital, Taipei, R.O.C.
FAU - Liu, C H
AU  - Liu CH
FAU - Wang, T R
AU  - Wang TR
FAU - Zhu, H M
AU  - Zhu HM
FAU - Jiang, S
AU  - Jiang S
FAU - Sciorra, L J
AU  - Sciorra LJ
FAU - Lee, M L
AU  - Lee ML
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Singapore
TA  - J Formos Med Assoc
JT  - Journal of the Formosan Medical Association = Taiwan yi zhi
JID - 9214933
SB  - IM
MH  - Abnormalities, Multiple/genetics
MH  - Child, Preschool
MH  - Chromosome Aberrations/*genetics
MH  - Chromosome Disorders
MH  - *Chromosomes, Human, Pair 13
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Male
MH  - *Mosaicism
MH  - *Ring Chromosomes
EDAT- 1992/11/01 00:00
MHDA- 1992/11/01 00:01
CRDT- 1992/11/01 00:00
PHST- 1992/11/01 00:00 [pubmed]
PHST- 1992/11/01 00:01 [medline]
PHST- 1992/11/01 00:00 [entrez]
PST - ppublish
SO  - J Formos Med Assoc. 1992 Nov;91(11):1108-11.