Abstract
A 5-yr-old girl unilateral retinoblastoma was found to have del(13)(q14.1q14.3). Her 16-month-old sister and 35-year-old mother, with retinal colobomata but without retinoblastoma, have the same deletion. Esterase D studies indicate reduced gene dose at this locus in the 3 females, consistent with a deletion of band 13q14. These patients are of apparently normal intelligence but have a mildly 'coarse' facial appearance, a broad nasal bridge, upturned nares, and a long upper lip with thin upper lip vermillion similar to the phenotype suggested by Motegi et al [1983a] for patients with this deletion. Review of the literature documents 2 other patients with deletions of band 13q14 but without retinoblastoma, indicating that retinoblastoma is not a necessary consequence of this deletion. Of the 12 reported patients with deletions limited to band 13q14, seven had normal intelligence and five were macrocephalic. Insufficient clinical information is provided to draw conclusions about phenotype. The family which we describe and those reviewed by Motegi et al suggest that there may be a characteristic appearance in patients with this deletion.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 675-683 |
| Number of pages | 9 |
| Journal | American Journal of Medical Genetics |
| Volume | 28 |
| Issue number | 3 |
| State | Published - 1987 |
| Externally published | Yes |
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ASJC Scopus subject areas
- Genetics(clinical)
Cite this
Deletion (13) (q14.1q14.3) in two generations : Variability of ocular manifestations and definition of the phenotype. / Wilson, W. G.; Campochiaro, Peter A; Conway, B. P.; Carter, B. T.; Sudduth, K. W.; Watsin, B. A.; Sparkes, R. S.
In: American Journal of Medical Genetics, Vol. 28, No. 3, 1987, p. 675-683.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Deletion (13) (q14.1q14.3) in two generations
T2 - Variability of ocular manifestations and definition of the phenotype
AU - Wilson, W. G.
AU - Campochiaro, Peter A
AU - Conway, B. P.
AU - Carter, B. T.
AU - Sudduth, K. W.
AU - Watsin, B. A.
AU - Sparkes, R. S.
PY - 1987
Y1 - 1987
N2 - A 5-yr-old girl unilateral retinoblastoma was found to have del(13)(q14.1q14.3). Her 16-month-old sister and 35-year-old mother, with retinal colobomata but without retinoblastoma, have the same deletion. Esterase D studies indicate reduced gene dose at this locus in the 3 females, consistent with a deletion of band 13q14. These patients are of apparently normal intelligence but have a mildly 'coarse' facial appearance, a broad nasal bridge, upturned nares, and a long upper lip with thin upper lip vermillion similar to the phenotype suggested by Motegi et al [1983a] for patients with this deletion. Review of the literature documents 2 other patients with deletions of band 13q14 but without retinoblastoma, indicating that retinoblastoma is not a necessary consequence of this deletion. Of the 12 reported patients with deletions limited to band 13q14, seven had normal intelligence and five were macrocephalic. Insufficient clinical information is provided to draw conclusions about phenotype. The family which we describe and those reviewed by Motegi et al suggest that there may be a characteristic appearance in patients with this deletion.
AB - A 5-yr-old girl unilateral retinoblastoma was found to have del(13)(q14.1q14.3). Her 16-month-old sister and 35-year-old mother, with retinal colobomata but without retinoblastoma, have the same deletion. Esterase D studies indicate reduced gene dose at this locus in the 3 females, consistent with a deletion of band 13q14. These patients are of apparently normal intelligence but have a mildly 'coarse' facial appearance, a broad nasal bridge, upturned nares, and a long upper lip with thin upper lip vermillion similar to the phenotype suggested by Motegi et al [1983a] for patients with this deletion. Review of the literature documents 2 other patients with deletions of band 13q14 but without retinoblastoma, indicating that retinoblastoma is not a necessary consequence of this deletion. Of the 12 reported patients with deletions limited to band 13q14, seven had normal intelligence and five were macrocephalic. Insufficient clinical information is provided to draw conclusions about phenotype. The family which we describe and those reviewed by Motegi et al suggest that there may be a characteristic appearance in patients with this deletion.
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M3 - Article
C2 - 3322010
AN - SCOPUS:0023616459
VL - 28
SP - 675
EP - 683
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 3
ER -