Interstitial deletion of 14q, 46, XY, del (14) (q24.3q32.1) associated with status nonepileptic myoclonia and delayed myelination

A Japanese boy with interstitial deletion of the long arm of chromosome 14, including band 14q31, is described. The characteristic dysmorphic facial f eatures, such as dolichocephaly, bushy eyebrows, horizontal narrow palpebra l fissures, long philtrum, etc, and mental and motor developmental delay we re observed. Other characteristic clinical manifestations were anuresis and status nonepileptic myoclonia. The finding of delayed myelination of the c erebral white matter was observed on magnetic resonance examination, sugges ting that an unknown factor related to myelination in the central nervous s ystem might be localized in band 14q31.