PMID- 19693468
OWN - NLM
STAT- MEDLINE
DCOM- 20091223
LR  - 20211020
IS  - 1708-8569 (Print)
VI  - 5
IP  - 3
DP  - 2009 Aug
TI  - Constitutional retinoblastoma gene deletion in Egyptian patients.
PG  - 222-5
LID - 10.1007/s12519-009-0042-1 [doi]
AB  - BACKGROUND: Retinoblastoma is a neuroblastic tumor of childhood with an incidence 
      of 1: 20 000. Retinoblastoma gene (Rb1) is a tumor suppressor gene that is 
      located on the long arm of chromosome 13 at region 14. This study was to evaluate 
      the constitutional monoallelic Rb1 deletion among retinoblastoma families. 
      METHODS: Nine families with an affected Rb proband were evaluated. Clinical 
      examination, pedigree analysis, and complete eye examination were given to 
      patients, their sibs and parents. Standard cytogenetic and fluorescence in situ 
      hybridization (FISH) analyses were carried out for all of them. Also, two sib 
      fetuses were tested for Rb1 deletion. RESULTS: No dysmorphic features were 
      detected in any patient. Developmental milestones were within normal limit except 
      in one proband who had a mild delay. The age of onset ranged from one month to 4 
      years. Positive family history was found in two families. In one, the father and 
      3 sibs had retinoblastoma, and in the other, 2 sibs were affected, but the 
      parents were free. Chromosomal study revealed no abnormalities in all parents and 
      sibs. Two patients had mosaic chromosome 13 abnormalities, 
      46,XY/46,XY,del(13)(pter-->q14:) and 46,XX/46,inv(13)(q14q22). FISH analysis 
      detected mosaic Rb1 deletion in two patients and excluded Rb1 deletion in two 
      fetuses. CONCLUSIONS: The detection of genetic alterations affecting the Rb1 
      locus is important for the establishment of carriers, and prenatal and 
      presymptomatic diagnosis. The search for deleted Rb1 mosaic cell lines is 
      important for genetic counseling. Germline mutation may be considered as genetic 
      transmission method of the Rb1 gene.
FAU - Mohammed, Amal M
AU  - Mohammed AM
AD  - Department of Human Cytogenetics, National Research Centre, Cairo, Egypt. 
      amalmahmoud15@yahoo.com
FAU - Kamel, Alaa K
AU  - Kamel AK
FAU - Hammad, Saida A
AU  - Hammad SA
FAU - Afifi, Hanan H
AU  - Afifi HH
FAU - El Sanabary, Zeinab
AU  - El Sanabary Z
FAU - El Din, Mostafa Ezz
AU  - El Din ME
LA  - eng
PT  - Journal Article
DEP - 20090820
PL  - Switzerland
TA  - World J Pediatr
JT  - World journal of pediatrics : WJP
JID - 101278599
SB  - IM
MH  - Child, Preschool
MH  - Cytogenetic Analysis
MH  - Egypt
MH  - Female
MH  - *Gene Deletion
MH  - Genes, Retinoblastoma/*genetics
MH  - *Germ-Line Mutation
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Karyotyping
MH  - Male
MH  - Mosaicism
MH  - Retinal Neoplasms/*genetics
MH  - Retinoblastoma/*genetics
EDAT- 2009/08/21 09:00
MHDA- 2009/12/24 06:00
CRDT- 2009/08/21 09:00
PHST- 2008/09/23 00:00 [received]
PHST- 2009/04/01 00:00 [accepted]
PHST- 2009/08/21 09:00 [entrez]
PHST- 2009/08/21 09:00 [pubmed]
PHST- 2009/12/24 06:00 [medline]
AID - 10.1007/s12519-009-0042-1 [doi]
PST - ppublish
SO  - World J Pediatr. 2009 Aug;5(3):222-5. doi: 10.1007/s12519-009-0042-1. Epub 2009 
      Aug 20.