Cri du Chat syndrome is due to microdeletions in the 5p chromosomal region, which may vary in extent but usually include deletion of the TERT gene in the 5p15.2 band. Affected children exhibit microcephaly, round face with full cheeks, hypertelorism, micrognathia, low-set ears, hypotonia, as well as severe psychomotor delay and mental retardation. Characteristic for this disorder is the cat-like cry observed in affected newborns. Frequency of this genetic disorder varies between 1/20.000 to 1/50.000 births.
We perform an MLPA technique, employing multiple probes recognizing specific DNA sequences in the region of interest, enabling us to detect deletions of specific sequences known to be responsible for >99% of cases.
This technique is superior to FISH, due to its enhanced analytical sensitivity and reliability.