Abstract
Roughly 5% of all patients with retinoblastoma carry a constitutional chromosome deletion on the long arm of chromosome 13, which confers a prezygotic predisposition to tumour development. As offspring of deletion carriers have a 50% risk of inheriting the predisposition locus it is important to identify deletion carriers. The site of the esterase D gene to the often deleted regions offers an objective means of deletion identification. The chromosomes of a patient with unilateral retinoblastoma, previously supposed to have a normal karyotype, were re-examined after the discovery that his red blood cells contained reduced activities of esterase D. A small sub-band deletion was found in chromosome region 13q14. These findings emphasise the importance of measurements of esterase D in all patients with retinoblastoma, even those with an apparently normal karyotype.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 8-11 |
| Number of pages | 4 |
| Journal | Archives of Disease in Childhood |
| Volume | 62 |
| Issue number | 1 |
| DOIs | |
| State | Published - Jan 1 1987 |
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ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
Cite this
The need to screen all retinoblastoma patients for esterase D activity : Detection of submicroscopic chromosome deletions. / Cowell, J. K.; Thompson, E.; Rutland, P.
In: Archives of Disease in Childhood, Vol. 62, No. 1, 01.01.1987, p. 8-11.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - The need to screen all retinoblastoma patients for esterase D activity
T2 - Detection of submicroscopic chromosome deletions
AU - Cowell, J. K.
AU - Thompson, E.
AU - Rutland, P.
PY - 1987/1/1
Y1 - 1987/1/1
N2 - Roughly 5% of all patients with retinoblastoma carry a constitutional chromosome deletion on the long arm of chromosome 13, which confers a prezygotic predisposition to tumour development. As offspring of deletion carriers have a 50% risk of inheriting the predisposition locus it is important to identify deletion carriers. The site of the esterase D gene to the often deleted regions offers an objective means of deletion identification. The chromosomes of a patient with unilateral retinoblastoma, previously supposed to have a normal karyotype, were re-examined after the discovery that his red blood cells contained reduced activities of esterase D. A small sub-band deletion was found in chromosome region 13q14. These findings emphasise the importance of measurements of esterase D in all patients with retinoblastoma, even those with an apparently normal karyotype.
AB - Roughly 5% of all patients with retinoblastoma carry a constitutional chromosome deletion on the long arm of chromosome 13, which confers a prezygotic predisposition to tumour development. As offspring of deletion carriers have a 50% risk of inheriting the predisposition locus it is important to identify deletion carriers. The site of the esterase D gene to the often deleted regions offers an objective means of deletion identification. The chromosomes of a patient with unilateral retinoblastoma, previously supposed to have a normal karyotype, were re-examined after the discovery that his red blood cells contained reduced activities of esterase D. A small sub-band deletion was found in chromosome region 13q14. These findings emphasise the importance of measurements of esterase D in all patients with retinoblastoma, even those with an apparently normal karyotype.
UR - http://www.scopus.com/inward/record.url?scp=0023065361&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0023065361&partnerID=8YFLogxK
U2 - 10.1136/adc.62.1.8
DO - 10.1136/adc.62.1.8
M3 - Article
C2 - 3813643
AN - SCOPUS:0023065361
VL - 62
SP - 8
EP - 11
JO - Genitourinary Medicine
JF - Genitourinary Medicine
SN - 0266-4348
IS - 1
ER -