PARTIAL TRISOMY 18(Q11-]QTER) IN AN INFANT AND ABORTED FETUS RESULTING FROM A BALANCED PATERNAL TRANSLOCATION T(13-18) (Q32-Q11)
- 1 January 1978
- journal article
- research article
- Vol. 21 (1), 60-64
Abstract
Partial trisomy 18 is described in a 2 mo. old female with severe mental, motor and growth retardation, associated with multiple congenital anomalies characteristic of complete trisomy 18. Trisomy for almost all of 18q resulted from adjacent I segregation of a paternally inherited translocation t(13;18)(q32;q11). The balanced translocation was observed in 3 generations of the family. Partial trisomy 18q identical to that observed in the proband was found in a subsequent miscarriage.This publication has 3 references indexed in Scilit:
- The trisomy 18 syndrome with an E/G translocationHuman Genetics, 1976
- Pseudohermaphroditism with clinical features of trisomy 19 in an infant trisomic for parts of chromosomes 16 and 18: 47,XY,der(18),t(16;18)(p12;q11)mat.Journal of Medical Genetics, 1975
- Congenital Malformations in Autosomal Trisomy SyndromesArchives of Pediatrics & Adolescent Medicine, 1966