Interstitial deletion of band q12 of chromosome 5
- 1 May 1984
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 25 (5) , 455-458
- https://doi.org/10.1111/j.1399-0004.1984.tb02016.x
Abstract
A 6-mo.-old girl is presented with psychomotor retardation and multiple congenital malformations. The karyotype done on peripheral blood lymphocytes and skin fibroblasts was found to be 46,XX del(5)(q11q13). The parents are consanguineous. Their karyotypes were normal. The genes for arylsulfatase B and hexosaminidase B are not located in band 5q12.Keywords
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