Phenotype of partial trisomy 8 (p21 leads to qter) in two unrelated patients with de novo translocation.
- 1 June 1981
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 18 (3) , 204-208
- https://doi.org/10.1136/jmg.18.3.204
Abstract
Two unrelated patients with a de novo partial trisomy 8 (q21.fwdarw.qter) are presented. The children had strikingly similar phenotypes, characterized by a wide face with hypertelorism, a broad based nose, malformed ears, micrognathia and a very short neck. A cleft palate, cardiac defects and hydronephrosis were present in both patients. The relation between the 8qter syndrome and trisomy 8 (Warkany syndrome) is discussed.This publication has 8 references indexed in Scilit:
- Complete and partial trisomy of different segments of chromosome 8: case reports and reviewClinical Genetics, 1979
- Inherited Partial Trisomy 8q (22 → qter)Archives of Pediatrics & Adolescent Medicine, 1978
- A fetus with recombinant of chromosome 8 inherited from her carrier fatherHuman Genetics, 1978
- Karyotype-phenotype correlation: Mosaic trisomy 8 and partial trisomies of different segments of chromosome 8Human Genetics, 1978
- Trisomy 8: an international study of 70 patients.1977
- CHROMOSOME 8 - COMPLETE TRISOMY AND PARTIAL TRISOMIES1977
- Partial trisomy 8q in half-sisters with distinct dysmorphic patterns not similar to the trisomy 8 mosaicism syndromeHuman Genetics, 1977
- Translocation 8–22 sans changement de longueur et trisomie partielle 8q: Detection par denaturation ménagéeExperimental Cell Research, 1972