The Tohoku Journal of Experimental Medicine
Online ISSN : 1349-3329
Print ISSN : 0040-8727
ISSN-L : 0040-8727
An 18p- Syndrome due to 15/18 Translocation with Facial Palsy and Deafness
KIMIKO ADACHIMARI HAYASHI
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1981 Volume 133 Issue 3 Pages 307-311

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Abstract

ADACHI, K. and HAYASHI, M. An 18p- Syndrome due to 15/18 Translocation with Facial Palsy and Deafness. Tohoku J. exp. Med., 1981, 133 (3), 307-311 -A case of translocation between chromosomes No. 15 and 18 was described. Phenotype of the patient was almost consistent with that of the 18p- syndrome. In addition to the typical feature of 18p- syndrome, he had perceptive deafness, and abducens nerve and facial nerve palsies. Giemsa-banding technique demonstrated patient's karyotype to be 45, XY, -15, -18, +t (15; 18) (p12: p11).

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