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Wakazono A, Masuno M, Yamaguchi S, et al. Interstitial deletion of the long arm of chromosome 11: report of a case and review of the literature. Jpn J Hum Genet. 1992;37(3):229-34doi: 10.1007/BF01900717.
Wakazono, A., Masuno, M., Yamaguchi, S., Tsubouchi, K., Kondo, N., & Orii, T. (1992). Interstitial deletion of the long arm of chromosome 11: report of a case and review of the literature. The Japanese journal of human genetics, 37(3), 229-34. https://doi.org/10.1007/BF01900717
Wakazono, A, et al. "Interstitial deletion of the long arm of chromosome 11: report of a case and review of the literature." The Japanese journal of human genetics vol. 37,3 (1992): 229-34. doi: https://doi.org/10.1007/BF01900717
Wakazono A, Masuno M, Yamaguchi S, Tsubouchi K, Kondo N, Orii T. Interstitial deletion of the long arm of chromosome 11: report of a case and review of the literature. Jpn J Hum Genet. 1992 Sep;37(3):229-34. doi: 10.1007/BF01900717. PMID: 1472705.
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Jpn J Hum Genet. 1992 Sep;37(3):229-34. doi: 10.1007/BF01900717.

Interstitial deletion of the long arm of chromosome 11: report of a case and review of the literature.

The Japanese journal of human genetics

A Wakazono, M Masuno, S Yamaguchi, K Tsubouchi, N Kondo, T Orii

Affiliations

  1. Department of Pediatrics, Gifu University School of Medicine, Japan.

PMID: 1472705 DOI: 10.1007/BF01900717

Abstract

A 12-month-old female infant with developmental delay, growth retardation, and dysmorphic features including dolichocephaly, telecanthus, ptosis, flat nasal bridge, anteverted nares, high-arched palate, carp-shaped mouth, micro-retrognathia, and low-set and posteriorly rotated ears was found to have an interstitial deletion of chromosome 11 involving bands q14-q22. Immunoblot analysis of her fibroblasts revealed a normal amount of mitochondrial acetoacetyl-coenzyme A thiolase, of which gene locus has been assigned to chromosome 11q22.3-q23.1. This result suggested that the region around the boundary of 11q22.3-q23.1 was intact in this patient.

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