A 4-month-old male presented with dysmorphic features and was referred for chromosomal analysis. He was the second child of the couple. The 1.5-year-old elder sibling of the infant was healthy. The infant showed microcephaly, flat occiput, hypertelorism, low set and malformed ears, slanting palpebral fissures, thick furrowed protruding tongue, hypotonia, short broad hand, open mouth, clinodactyly and gap between 1st and 2nd toes. There had been no complications during gestation and he had been born following a normal delivery. Chromosomal analysis from his parents and sibling were done and the karyotypes were found to be normal.
The infant’s chromosomal analysis, however, revealed 48, XXY, +21 with no mosaicism. What could be the probable diagnosis? *This patient case is from Docplexus Editorial Team for educative purpose only. Source: Cyril C. Indian Journal of Human…
