Prenatal diagnosis of a large heteromorphic region in a chromosome 5: Implications for genetic counseling

Publisher Website
Google Scholar
Abstract
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.