Partial monosomy of chromosome 2. Delineable syndrome of deletion 2 (q23-q31).
A malformed, severely retarded 20-year-old female is reported with deletion 2 (q23-q34) in mosaic. The clinical features are compared with those of other reported cases presenting partial monosomy 2q at the segment q23-q31. The stigmata are not very characteristic although a large constellation of features is in common and a definition of a partial monosomy 2 (q23-q31) syndrome seems possible. The features are: poor neurologic development and unresponsiveness to stimulation, growth and mental retardation, low set ears, antimongolian slant, ptosis, cataracts, median cleft of soft palate, severe scoliosis, flexion deformity of fingers, cleft between II and III toes, cardial defect.
D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D002900:Chromosomes, Human, 1-3; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D008297:Male