EXTRA DICENTRIC 15pter→q21/22 CHROMOSOMES IN FIVE UNRELATED PATIENTS WITH A DISTINCT SYNDROME OF PROGRESSIVE PSYCHOMOTOR RETARDATION, SEIZURES, HYPER-REACTIVITY AND DERMATOGLYPHIC ABNORMALITIES

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Abstract
Five unrelated patients with a supernumerary chromosome derivative of chromosome 15 are described. The clinical findings in the present series of cases show gross concordance with the data previously reported in subjects with similar aberrations and allow the delineation of a distinct syndrome. Although undetermined variation in the structure of these extra chromosomes may contribute significantly to phenotypic heterogeneity, the patients display a rather common constellation of findings, which include absence of major malformations, mental and developmental retardation, seizures, hypotonia, behavioral disturbances and reduced total ridge count on fingertips. Patients with partial trisomy 15q- resulting from dicentric chromosomes bear little resemblance to patients carrying 15q- chromosomes arising de novo or due to unbalanced translocations.