Diagnosis of chromosome 3 duplication q23----qter, deletion p25----pter in a patient with the C (trigonocephaly) syndrome.
The cells of a deceased patient previously reported to have the C (trigonocephaly) syndrome were reinvestigated because his phenotype resembled that of a patient with a duplication-deficiency of chromosome 3. This diagnosis was confirmed using fibroblasts grown from frozen cells, and his mother was shown to carry an inversion of chromosome 3 in her peripheral blood leukocytes. His findings are compared to those of another patient with the C trigonocephaly syndrome with normal chromosomes and to others from the literature. At least one other patient from the literature has a phenotype compatible with "3q duplication syndrome."
D000015:Abnormalities, Multiple / Q000235:genetics*; D002869:Chromosome Aberrations; D002900:Chromosomes, Human, 1-3; D005145:Face / Q000002:abnormalities; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome