Monosomi 3p
Også kjent som: Distal monosomy 3p
Engelsk navn: Distal deletion 3p
Engelske synonym: 3p deletion syndrome,3p- syndrome,Distal monosomy 3p,Monosomy 3pter,Telomeric monosomy 3p
Definisjon
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.
Fra Orphanet
ORPHA: 1620
Klassifiseringsnivå: Disorder
ICD-10: Q87.8
