Related Experiment Video
Updated: Aug 26, 2026

FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
Partial trisomy 6p due to familial translocation t(6;20)(p21;p13). A new syndrome?
Abstract:
Cytogenetic findings in a case of partial trisomy 6p due to a translocation t(6;20)(p21;p13) and eleven balanced translocation heterozygotes are described. The clinical data of the proposita are compared with those of five other published cases. A partial trisomy 6p syndrome is postulated, characterized by: low birth weight, psychomotor retardation, craniofacial abnormalities (such as high prominent forehead, large fontanel, wide sagittal suture, blepharoptosis, low-set and/or malformed ears), congenital heart malformation, small kidneys, and proteinuria. Linkage studies have shown that the breakpoint in chromosome 6 involved in this translocation is close to the HLA gene cluster.
Related Concept Videos
Meiosis I
Karyotyping
Nondisjunction
Karyotyping
Genomic Imprinting and Inheritance
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
Nondisjunction

