PARTIAL DUPLICATION 5Q SYNDROME - PHENOTYPIC SIMILARITY IN 2 SISTERS WITH IDENTICAL KARYOTYPE (PARTIAL DUPLICATION 5Q33-]5QTER AND PARTIAL DEFICIENCY 8P23-]PTER)

  • 1 January 1977
    • journal article
    • research article
    • Vol. 20  (4) , 281-284
Abstract
Two sisters with statomotor developmental retardation microcephaly, hydrocephalus internus and externus without signs of pressure, heart defect (ventricular septal defect), early pulmonary resistance and characteristic facial changes were found to have the same unbalanced karyotype with partial trisomy 5q3300 .fwdarw. 5qter and partial monosomy 8p2300 .fwdarw. 8pter, derived from a balanced reciprocal paternal translocation: 46,XY,t(5;8)(q300;p2300). The older girl was tested for the erythrocyte enzyme glutathione reductase and had normal values.