Mosaic trisomy of a small r(1) with an abnormal phenotype.

Abstract excerpt

Cytogenetic studies of a mildly dysmorphic 10-year-old male with mild developmental delay and learning difficulties revealed mosaicism for a supernumerary ring chromosome in approximately half of the cells. The karyotype of this patient was established as 47,XY,+r[15]/46,XY[15].ish r(1)(D1Z7+,wcp1-). Although the presence of euchromatic material was shown by C banding, the lack of hybridization with the whole...

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