Deletion (13) (q14.1q14.3) in two generations: Variability of ocular manifestations and definition of the phenotype

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Abstract
A 5‐yr‐old girl with unilateral retinoblastoma was found to have del(l3)(q14.lql4.3). 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 13ql4. 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 13ql4 but without retinoblastoma, indicating that retinoblastoma is not a necessary consequence of this deletion. Of the 12 reported patients with deletions limited to band 13ql4, 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.