Since the introduction of HR-CGH in 1997 more than 500 analyses have performed in our cytogenetic laboratory.
The data show that apart from being an excellent tool for clarification or confirmation of abnormal karyotypes,
HR-CGH is well suited for investigation of dysmorphic and mentally retarded individuals with normal or
apparently balanced karyotypes.
In contrast to conventional CGH, HR-CGH enables detection of small chromosomal aberrations in a number of these patients.
The present data suggests that chromosome aberrations may be detected in
12% of dysmorphic and mentally retarded patients with normal conventional karyotype and in 20% of
dysmorphic and mentally retarded patients with apparently balanced
de novo translocations. So far the majority of the detected aberrations were interstitial.
We conclude that HR-CGH should be used as follows:
We offer HR-CGH as a routine analysis. See services.