Trisomy 18q‐. Trisomy mapping of chromosome 18 revisited
- 1 July 1980
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 18 (1) , 20-26
- https://doi.org/10.1111/j.1399-0004.1980.tb01359.x
Abstract
Two patients with trisomy for 18p and the proximal segment of 18q (trisomy 18q-) are reported and compared with similar cases from the literature. The phenotype of trisomy 18q- resembles that of full trisomy 18 but differs mainly in the birdlike face, small mouth, more pronounced microretrognathia, minor skeletal dysplasia and inner organ malformations, and less severe vital prognosis.Keywords
This publication has 9 references indexed in Scilit:
- Trisomy 18qter and trisomy mapping of chromosome 18Clinical Genetics, 2008
- Features of trisomy 18 and 18p-syndromes in an infant with 46, XY, i(18q)Clinical Genetics, 1979
- Partial trisomy 18q12, due to intrachromosomal duplication, is not associated with typical 18 trisomy phenotypeHuman Genetics, 1979
- Extra small metacentric chromosome identified as i(18p).Journal of Medical Genetics, 1979
- Partial 18 trisomy (with 47 chromosomes) resulting from a familial maternal translocation.Journal of Medical Genetics, 1978
- Small metacentric nonsatellited extra chromosomeHuman Genetics, 1978
- Partial trisomy 18q in a newborn with typical 18 trisomy phenotypeHuman Genetics, 1978
- 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
- Familial mental retardation in a family with an inherited chromosome rearrangementJournal of Medical Genetics, 1974