A 20.5-MB germline deletion of 13q13.1→q14.3 and somatic mutations of the RB1 gene in an 8-year-old girl with unilateral retinoblastoma, developmental delay and mental retardation

Genetic Counseling

Volumn 22, Issue 4, 2011, Pages 431-434

  Chen, Chih Ping ^a,b,c,d   Kao, L Y ^e   Su, Y N ^f   Chen, M ^g   Chang, S D ^e   Wang, W ^a,h  

^a MACKAY MEMORIAL HOSPITAL   (Taiwan)

^b ASIA UNIVERSITY   (Taiwan)

^c CHINA MEDICAL UNIVERSITY   (Taiwan)

^d NATIONAL YANG MING UNIVERSITY   (Taiwan)

^e CHANG GUNG UNIVERSITY   (Taiwan)

^f NATIONAL TAIWAN UNIVERSITY HOSPITAL   (Taiwan)

^g CHANGHUA CHRISTIAN HOSPITAL   (Taiwan)

^h TATUNG UNIVERSITY   (Taiwan)

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD SAMPLING; CASE REPORT; CHILD; CHROMOSOME DELETION; COMPUTER ASSISTED TOMOGRAPHY; ELECTROENCEPHALOGRAPHY; ENUCLEATION; FEMALE; GENE; GESTATION PERIOD; HUMAN; KARYOTYPE 46,XX; LETTER; LEUKOKORIA; MENTAL DEFICIENCY; MUTATIONAL ANALYSIS; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; RB1 GENE; RETINOBLASTOMA; SCHOOL CHILD; SOMATIC MUTATION;

ALLELES; CHILD; CHROMOSOME DELETION; DEVELOPMENTAL DISABILITIES; DNA MUTATIONAL ANALYSIS; FEMALE; GERM-LINE MUTATION; HUMANS; INTELLECTUAL DISABILITY; NUCLEIC ACID HYBRIDIZATION; PHENOTYPE; RETINAL NEOPLASMS; RETINOBLASTOMA; RETINOBLASTOMA PROTEIN;

EID: 84862965741     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Letter

References (4)

1. ALBRECHT P., ANSPERGER-RESCHER B., SCHÜLER A., ZESCHNIGK M., GALLIE B., LOHMANN D.R.: Spectrum of gross deletions and insertions in the RB1 gene in patients with retinoblastoma and association with phenotypic expression. Hum. Mutat., 2005, 26, 437-445.
2. BUNIN G.R., EMANUEL B.S., MEADOWS A.T., BUCKLEY J.D., WOODS W.G., HAMMOND G.D.: Frequency of 13q abnormalities among 203 patients with retinoblastoma. J. Natl. Cancer Inst., 1989, 81, 370-374.
3. th edition. Rimoin D.L., Connor J.M., Pyeritz R.E., Korf B.R. (eds). Philadelphia, Churchill Livingstone Elsevier, 2007, 3241-3264.
4. TURLEAU C., DE GROUCHY J., CHAVIN-COLIN F., JUNIEN C., SÉGER J., SCHLIENGER P., LEBLANC A., HAYE C.: Cytogenetic forms of retinoblastoma: their incidence in a survey of 66 patients. Cancer Genet. Cytogenet., 1985, 16, 321-334.