Orofaciodigital syndrome in a male

A 9-month-old white male was found to have the typical multiple anomalies associated with the orofaciodigital syndrome. All previous, cases of this syndrome have been in females, and some have shown partial trisomy for the No. 1 choromosome. In this case the buccal cell sex chromatin test was consistent for a male. Chromosome analysis revealed a complement of 47 chromosomes with complete trisomy, probably involving the No. 1...