A boywithdevelopmental delayanda maternally inherited deletion in15q 11q 13

A boywasreferred at8weeksofagefor failure tothrive. Cytogenetic and molecular studies showedthathehadalarge proximaldeletion ofthematernally derivedchromosome15q.He didnothave Angelmansyndrome, butat2yearsofage wasseverely globally delayed. He diedat 21yearsofage. (JMedGenet1996;33:422-425)