Prenatal diagnosis of a large heteromorphic region in a chromosome 5: implications for genetic counseling.
We performed an amniotic fluid chromosome study at 16 weeks of gestation because of advanced maternal age. G-band chromosome analysis demonstrated that one 5q was significantly longer than its homologue. The region subjacent to the centromere appeared similar to a 9qh region. Subsequent Giemsa-11 and C-band staining results of this area were positive. Cytogenetic studies in this family demonstrated several other individuals who have the same chromosome 5qh+ as the proposita. All are asymptomatic. The clinical insignificance of the chromosome heteromorphism in this family readily demonstrates the need for special cytogenetic and family chromosome studies before performing genetic counseling.
Department of Pediatrics, University of Utah School of Medicine, Salt Lake City 84132.
R M
RM
Fineman
B
B
Issa
V
V
Weinblatt
D002503:Centromere; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002895:Chromosomes, Human, Pair 5; D005260:Female; D005817:Genetic Counseling; D006570:Heterochromatin; D006801:Humans; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods
D006570:Heterochromatin