3p- syndrome
3p- syndrome
Definition
Distal monosomy 3p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 3, with a highly variable phenotype typically characterized by pre- and post-natal growth retardation, intellectual disability, developmental delay and craniofacial dysmorphism (microcephaly, trigonocephaly, downslanting palpebral fissures, telecanthus, ptosis, micrognathia). Postaxial polydactyly, hypotonia, renal anomalies and congenital heart defects (e.g. atrioventricular septal defect) may be associated.
Also known as 3p- syndrome, Chromosome 3, Monosomy 3p, chromosome 3pter-p25 deletion syndrome, distal 3p deletion, distal monosomy 3p, distal monosomy type 3p, monosomy 3pter, telomeric monosomy 3p — per MONDO