Partial trisomy 11q due to paternal t(11q;18p); further delineation of the clinical picture
- 1 March 1984
- journal article
- case report
- Published by Wiley in Clinical Genetics
- Vol. 25 (3), 295-299
- https://doi.org/10.1111/j.1399-0004.1984.tb01992.x
Abstract
We describe an eleven-months-old girl with a partial trisomy 11q due to a paternal t(11;18)(q142;p1131). Clinical symptoms include severe psychomotor retardation, microcephaly, cleft palate, large, beaked nose, micrognathia, short hands and proximally placed thumbs. Moreover, a partial agenesis of the callosal body and a perineal mid-line malformation are present. The clinical picture of the index case is compared with relevant findings in patients with a partial trisomy (11q) and partial monosomy (18p) (Aksu 1977).Keywords
This publication has 2 references indexed in Scilit:
- Partial 11q trisomy syndromeHuman Genetics, 1981
- The 11q;22q translocation: A European collaborative analysis of 43 casesHuman Genetics, 1980