RESUMEN
We report on a 4-year-old girl with distinctive facial features (redundant skin, bushy eyebrows, narrow palpebral fissures, short, upturned nose, epicanthal folds, and a long upper lip with well-defined philtrum) who has an interstitial deletion of chromosome 14 including band 14q31, designated as 46,XX,del(14)(pter-->q24.3::q32.1-->qter). Comparison with previously reported patients with deletions of 14q involving band 14q31 suggests that there is a distinctive clinical phenotype associated with this deletion. Our patient had dental abnormalities (3 maxillary and 3 mandibular incisors) not described in the other patients.
Asunto(s)
Anomalías Múltiples/genética , Deleción Cromosómica , Cromosomas Humanos Par 14 , Cara/anomalías , Anomalías Múltiples/metabolismo , Preescolar , Bandeo Cromosómico , Discapacidades del Desarrollo/genética , Femenino , Humanos , Fenotipo , Anomalías Dentarias/genética , alfa 1-Antiquimotripsina/deficiencia , alfa 1-Antiquimotripsina/genética , alfa 1-Antitripsina/genética , Deficiencia de alfa 1-AntitripsinaRESUMEN
We report on a girl with holoprosencephaly and a small, de novo interstitial deletion of most of band 2(p21). The similarity between the cytogenetic findings and CNS malformations in our patient and those recently reported by Münke et al. [Am J Med Genet 30:929-938, 1988] suggests a phenotypic relationship between deletion of this band and holoprosencephaly.
Asunto(s)
Anomalías Múltiples/genética , Encéfalo/anomalías , Deleción Cromosómica , Cromosomas Humanos Par 2 , Anomalías Múltiples/diagnóstico por imagen , Encéfalo/diagnóstico por imagen , Bandeo Cromosómico , Huesos Faciales/anomalías , Femenino , Humanos , Recién Nacido , Cariotipificación , Cintigrafía , Cráneo/anomalías , Síndrome , Tomógrafos Computarizados por Rayos XRESUMEN
A 5-yr-old girl with 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.