Bilateral perisylvian polymicrogyria, periventricular nodular heterotopia, and left ventricular noncompaction in a girl with 10.5-11.1 Mb terminal deletion of 1p36

Shoji Saito, Rie Kawamura, Tomoki Kosho, Takashi Shimizu, Koki Aoyama, Kenichi Koike, Takahito Wada, Naomichi Matsumoto, Mitsuhiro Kato, Keiko Wakui, Yoshimitsu Fukushima

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19 Citations (Scopus)

Abstract

Monosomy 1p36 is a common subtelomeric microdeletion syndrome, characterized by craniofacial dysmorphisms, developmental delay, mental retardation, hypotonia, epilepsy, cardiovascular complications, and hearing impairment; deleted regions have been mapped within 10.0 Mb from the telomere in most documented cases. We report on a girl with a 10.5-11.1 Mb terminal deletion of 1p36 shown by fluorescence in situ hybridization (FISH). She had three distinct structural abnormalities: bilateral perisylvian polymicrogyria, periventricular nodular heterotopia, and left ventricular non-compaction. She died in early infancy with intractable epilepsy, progressive congestive heart failure and pulmonary hypertension. To date, this is the first case with monosomy 1p36, complicated by this combination of manifestations; she is also the first who had possibly a simple terminal deletion of 1p36 and died in early infancy. An atypically large deletion in this patient might be the basis for the development of these features and the severe clinical course.

Original languageEnglish
Pages (from-to)2891-2897
Number of pages7
JournalAmerican Journal of Medical Genetics, Part A
Volume146
Issue number22
DOIs
Publication statusPublished - 15-11-2008

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

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    Saito, S., Kawamura, R., Kosho, T., Shimizu, T., Aoyama, K., Koike, K., Wada, T., Matsumoto, N., Kato, M., Wakui, K., & Fukushima, Y. (2008). Bilateral perisylvian polymicrogyria, periventricular nodular heterotopia, and left ventricular noncompaction in a girl with 10.5-11.1 Mb terminal deletion of 1p36. American Journal of Medical Genetics, Part A, 146(22), 2891-2897. https://doi.org/10.1002/ajmg.a.32556