Distal monosomy 1q
Distal monosomy 1q
Definition
1qter deletion syndrome is a chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-oesophalgeal and urogenital anomalies.
Also known as distal deletion 1q, distal monosomy type 1q, monosomy 1qter, telomeric deletion 1q — per MONDO