This recently described microdeletion syndrome is caused by a relatively small microdeletion of ~1.5Mb occurring at the 3q29 chromosomal region. It exhibits a mild to moderate mental retardation, with possible autistic behavior, multiple dysplasias and locomotor ataxia. The severity and manifestation of symptoms may differ for each patient.
3q29 microdeletion syndrome
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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.