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Journal of Child Neurology
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Interstitial Deletion of 14q, 46, XY, del (14) (q24.3q32.1) Associated With Status Nonepileptic Myoclonia and Delayed Myelination

Jiro Ono, MD

Department of Pediatrics Developmental Medicine

Hiroki Kurahashi, MD

Division of Clinical Genetics Department of Medical Genetics

Takeshi Okinaga, MD

Department of Pediatrics Developmental Medicine Osaka University Graduate School of Medicine Osaka, Japan

Toshiyuki Mano, MD

Department of Pediatrics Developmental Medicine Osaka University Graduate School of Medicine Osaka, Japan

Katsumi Imai, MD

Department of Pediatrics Developmental Medicine Osaka University Graduate School of Medicine Osaka, Japan

Koji Inui, MD

Department of Pediatrics Developmental Medicine Osaka University Graduate School of Medicine Osaka, Japan

Shintaro Okada, MD

Department of Pediatrics Developmental Medicine Osaka University Graduate School of Medicine Osaka, Japan

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. (J Child Neurol 1999;14:756-758).

Journal of Child Neurology, Vol. 14, No. 11, 756-758 (1999)
DOI: 10.1177/088307389901401116
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