Angelman syndrome is a neurogenetic disorder, which is mostly caused by a 15q11.2-q13 deletion on the maternally derived chromosome. The presence of an extra X chromosome (47, XXY) leads to the occurrence of Klinefelter syndrome. The main phenotypic effects in Klinefelter syndrome are manifested during the second decade of life, and in Angelman syndrome, effects don’t appear until 2-3 years after birth. In this case, an 11 months old infant showed one of the earliest diagnosis and a rare associated occurrence of both syndromes. Case presentation: An 11-month old male infant was presented with dysmorphic features, occipital flattening, a broad nasal root.
He also had delayed acquisition of motor skills and axial hypotonia. Family history: The patient’s parents were not consanguineous. His mother was 33-year-old with previous 3 years old healthy son. During the second pregnancy, she…
