Chromosome 1q21.1 deletion syndrome
Chromosome 1q21.1 deletion syndrome
Definition
1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome.
Also known as 1q21.1 microdeletion syndrome, 1q21.1 recurrent microdeletion (susceptibility locus for neurodevelopmental disorders), chromosome 1q21.1 deletion syndrome, isolated cases, Del(1)(q21), monosomy 1q21.1 — per MONDO