Developmental delay and dysmorphic features associated with a previously undescribed deletion on chromosome 1.
We report an 18 month old girl with developmental delay, dysmorphic features, and a karyotype 46,XX,del (1) (p32.1p32.3). To our knowledge the clinical features associated with this deletion have not been reported previously.
D002675:Child, Preschool; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1; D002658:Developmental Disabilities / Q000235:genetics*; D005145:Face / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007621:Karyotyping; D008214:Lymphocytes / Q000473:pathology