Tetrasomy 9p Syndrome in a Filipino Infant

  • Ebner Bon G. Maceda
  • Erena S. Kasahara
  • Edsel Allan G. Salonga
  • Myrian R. Dela Cruz
  • Leniza De Castro-Hamoy
Keywords: Tetrasomy 9p, isochromosome, hypertelorism, bulbous nose

Abstract

Tetrasomy 9p syndrome is a rare chromosomal abnormality syndrome whose most common features include hypertelorism, malformed ears, bulbous nose and microretrognathia. These features present as a result of an additional two copies of the short arm of chromosome 9. Here we present a neonate with characteristic facial features of hypertelorism, downslanted palpebral fissure, bulbous nose, small cupped ears, cleft lip and palate, and downturned corners of the mouth. Clinical features were consistent with the cytogenetic analysis of tetrasomy 9p. In general, clinicians are not as familiar with the features of tetrasomy 9p syndrome as that of more common chromosomal abnormalities like trisomies 13, 18, and 21. Hence, this case re-emphasizes the importance of doing the standard karyotyping for patients presenting with multiple congenital anomalies. Also, this is the first reported case of Tetrasomy 9p syndrome in Filipinos

Published
2020-08-27