/chromosome 1q21.1 deletion syndrome

chromosome 1q21.1 deletion syndrome

Rare Disease

MONDO:0012914

Also Known As

1q21.1 microdeletion syndrome1q21.1 recurrent microdeletion (susceptibility locus for neurodevelopmental disorders)Del(1)(q21)chromosome 1q21.1 deletion syndrome, isolated casesmonosomy 1q21.11q21.1 microdeletionchromosome 1q21.1 deletion syndrome, 1.35-MBchromosome 1q21.1 microdeletion 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.