Mentally retarded siblings with congenital heart defect, peculiar facies and cryptorchidism in the male: possible McDonough syndrome with coincidental (X; 20) translocation.
We report on a family in which two of the three children (girl and boy) have a MCA/MR syndrome consisting of peculiar facies, retarded psychomotor development, mental retardation, congenital heart defect, kyphoscoliosis, diastasis recti, and cryptorchidism in the boy. This syndrome is quite similar to that of the only family previously described and which was denominated McDonough Syndrome. The syndrome is delineated and autosomal recessive inheritance is suggested as the most likely etiology. A balanced translocation (X; 20) in the affected boy and in the unaffected mother was a coincidental finding.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D002648:Child; D002903:Chromosomes, Human, 19-20; D003456:Cryptorchidism / Q000235:genetics*; D005145:Face / Q000002:abnormalities; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D010375:Pedigree; D013577:Syndrome; D014178:Translocation, Genetic; D014960:X Chromosome