PMID- 1004381
OWN - NLM
STAT- MEDLINE
DCOM- 19770226
LR  - 20190902
IS  - 0098-1532 (Print)
IS  - 0098-1532 (Linking)
VI  - 2
IP  - 4
DP  - 1976
TI  - Sporadic bilateral retinoblastoma and 13q- chromosomal deletion.
PG  - 379-85
AB  - Unilateral retinoblastoma (Rb) is usually a sporadic occurrence while bilateral 
      (multifocal) cases are often familial. Sporadic bilateral Rb associated with a 
      long-arm deletion of a D-group chromosome has been reported in 8 children. We 
      have studied a 6-year-old female with bilateral sporadic retinoblastoma, treated 
      during infancy by enucleation and radiotherapy. Chromosome banding studies on 
      peripheral lymphocytes revealed an interstitial deletion from the long arm of a 
      chromosome 13: del(13) (q12q14). Three additional patients reported in the 
      literature had interstitial 13q- deletions, involving slightly different though 
      overlapping regions. The only chromosomal region consistently missing in all of 
      these 4 cases appears to be part of the lightly staining band 13q14. We, 
      therefore, propose this site as the precise location of a gene (or genes) 
      involved in retinal development. Our patient lacked features of the classic 13q- 
      or 13-ring syndrome, which involves deletion of a more distal portion of the 13 
      long arm. When compared to reported patients with Rb and 13q-, it became apparent 
      that there may be a separate recognizable syndrome consisting of moderate growth 
      and developmental delay, characteristic facies and external ears, and bilateral 
      sporadic Rb, which is associated with an interstitial 13q- deletion.
FAU - Francke, U
AU  - Francke U
FAU - Kung, F
AU  - Kung F
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Med Pediatr Oncol
JT  - Medical and pediatric oncology
JID - 7506654
SB  - IM
MH  - Adult
MH  - Child
MH  - *Chromosome Aberrations
MH  - *Chromosome Deletion
MH  - *Chromosomes, Human, 13-15
MH  - Eye Neoplasms/complications/*genetics
MH  - Female
MH  - Genes
MH  - Growth Disorders/etiology
MH  - Humans
MH  - Intellectual Disability/etiology
MH  - Male
MH  - Retinoblastoma/complications/*genetics
EDAT- 1976/01/01 00:00
MHDA- 1976/01/01 00:01
CRDT- 1976/01/01 00:00
PHST- 1976/01/01 00:00 [pubmed]
PHST- 1976/01/01 00:01 [medline]
PHST- 1976/01/01 00:00 [entrez]
AID - 10.1002/mpo.2950020404 [doi]
PST - ppublish
SO  - Med Pediatr Oncol. 1976;2(4):379-85. doi: 10.1002/mpo.2950020404.