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Updated: Aug 22, 2026

FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
A familial complex chromosome translocation resulting in duplication of 6p25
J R Vermeesch1, R Thoelen, Jean Pierre Fryns
1Center for Human Genetics, University of Leuven, Herestraat 49, 3000 Leuven, Belgium.
Abstract:
We report on a girl with psychomotor retardation, severe speech developmental delay and mild dysmorphic features. Molecular cytogenetic analysis showed that the patient was carrier of an insertion (6)(p22.5-->22.4) in chromosome 12. Analysis of the chromosomes of the mother revealed the presence of a complex chromosomal rearrangement. In addition to the insertion (6)(p22.5-->22.4) in chromosome 12 and a pericentric inversion in chromosome 12, the 6p subtelomeric region was absent in the mother. This is, to our knowledge, the smallest pure duplication of chromosome 6p as well as the smallest cryptic subtelomeric 6pter deletion thus far reported.
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