Article
Novel isodicentric chromosome 18 in an abnormal infant with a mosaic karyotype [46,XY/46,XY,-18,+dic(18)(q12.2]).
American journal of medical genetics - 1 Jun 1990
Bryke C R, Lindgren V, Fryburg J S, Yang-Feng T L
Abstract excerpt
A previously unreported isodicentric chromosome 18 was discovered in an abnormal infant boy whose mosaic karyotype was 46,XY/46,XY,-18,+idic(18)(q12.2). His constellation of congenital anomalies was typical of the 18q-syndrome. The clinical and cytogenetic characteristics of this patient are reported, and the literature concerning isochromosomes of 18 is reviewed.
Topics
- Chromosome Aberrations
- Chromosome Banding
- Chromosomes, Human, Pair 18
- Humans
- Infant, Newborn
- Karyotyping
- Male
- Mosaicism
- Phenotype
- Syndrome