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

Jiro Ono, Hiroki Kurahashi, Takeshi Okinaga, Toshiyuki Mano, Katsumi Imai, Koji Inui, Shintaro Okada

Research output: Contribution to journalArticle

14 Citations (Scopus)

Abstract

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

Original languageEnglish
Pages (from-to)756-758
Number of pages3
JournalJournal of Child Neurology
Volume14
Issue number11
DOIs
Publication statusPublished - 11-1999

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology

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