RESUMEN
Here we report on 2 mentally retarded sisters with clinical signs and symptoms not seen in a previously delineated MCA/MR syndrome, i.e., normal pre- and perinatal history, severe mental retardation with severe delay in psychomotor development and without development of primary motor abilities and speech, characteristic face with maxillary hypoplasia, large mouth with down-turned corners, short philtrum and everted lower lip, associated with a remarkable ectomorphic habitus.
Asunto(s)
Anomalías Múltiples/genética , Cara/anomalías , Discapacidad Intelectual/genética , Somatotipos/genética , Adulto , Femenino , Luxación Congénita de la Cadera/genética , Humanos , Fenotipo , Trastornos Psicomotores/genética , Escoliosis/genéticaRESUMEN
Here we report on a de novo apparently balanced reciprocal 5q;7p translocation in a 15-year-old girl with apparent Cohen syndrome characterized by hypotonia, obesity, multiple congenital anomalies, and mental retardation. This case may indicate that the gene for Cohen syndrome is at 5q33.1 or 7p15.1.