tetrasomy 9p

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Disease Overview

Tetrasomy 9p is a rare autosomal anomaly characterized by pre- and postnatal growth retardation, psychomotor delay, mild to moderate intellectual disability, hypotonia, microcephaly, dysmorphic features (ocular hypertelorism, low-set, malformed ears, bulbous/beaked nose, microretrognathia, enophthalmos/micropthalmia, epicanthus, strabismus), cleft lip/palate, skeletal abnormalities (hypoplastic nails/distal phalanges, short stature, short neck, contractures), congenital heart defects, renal and urogenital malformations (renal hypoplasia, genital hypoplasia, cryptorchidism).


Synonyms

  • Chromosome 9, Tetrasomy 9p
  • Isochromosome 9p
  • Mosaic tetrasomy 9p
  • chromosome 9p tetrasomy
  • tetrasomy of short arm of chromosome 9
  • tetrasomy type 9pChromosome 9, Tetrasomy 9p
  • Isochromosome 9p
  • Mosaic tetrasomy 9p
  • chromosome 9p tetrasomy
  • tetrasomy of short arm of chromosome 9
  • tetrasomy type 9p