Novel isodicentric chromosome 18 in an abnormal infant with a mosaic karyotype [46,XY/46,XY,-18,+dic(18)(q12.2]).
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.
Bryke
C R
CR
Department of Human Genetics, Yale University School of Medicine, New Haven, Connecticut 06510-8005.
Lindgren
V
V
Fryburg
J S
JS
Yang-Feng
T L
TL
D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002887:Chromosomes, Human, Pair 18; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D010641:Phenotype; D013577:Syndrome