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

研究成果: Article

14 引用 (Scopus)

抄録

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.

元の言語English
ページ(範囲)756-758
ページ数3
ジャーナルJournal of Child Neurology
14
発行部数11
DOI
出版物ステータスPublished - 01-01-1999
外部発表Yes

Fingerprint

Eyebrows
Chromosomes, Human, Pair 14
Eyelids
Lip
Magnetic Resonance Spectroscopy
Central Nervous System
White Matter

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology

これを引用

Ono, Jiro ; Kurahashi, Hiroki ; Okinaga, Takeshi ; Mano, Toshiyuki ; Imai, Katsumi ; Inui, Koji ; Okada, Shintaro. / Interstitial deletion of 14q, 46, XY, del (14) (q24.3q32.1) associated with status nonepileptic myoclonia and delayed myelination. :: Journal of Child Neurology. 1999 ; 巻 14, 番号 11. pp. 756-758.
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Interstitial deletion of 14q, 46, XY, del (14) (q24.3q32.1) associated with status nonepileptic myoclonia and delayed myelination. / Ono, Jiro; Kurahashi, Hiroki; Okinaga, Takeshi; Mano, Toshiyuki; Imai, Katsumi; Inui, Koji; Okada, Shintaro.

:: Journal of Child Neurology, 巻 14, 番号 11, 01.01.1999, p. 756-758.

研究成果: Article

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T1 - Interstitial deletion of 14q, 46, XY, del (14) (q24.3q32.1) associated with status nonepileptic myoclonia and delayed myelination

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AU - Okinaga, Takeshi

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AU - Inui, Koji

AU - Okada, Shintaro

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