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Clinical features and mental development of a child with a prenatally identified 45,XX,der(5)t(5;18) (p15;q11.2),-18 karyotype.
  1. R G Hutcheon,
  2. A Mallik,
  3. M Shaham
  1. Department of Pediatrics, St Joseph's Hospital and Medical Center, Paterson, New Jersey 07503, USA.


    We present the clinical features and growth and development of a child with a 45,XX,der(5)t(5;18) (p15;q11.2),-18 karyotype. She had microcephaly, prominent, posteriorly rotated ears, short palpebral fissures with an upward slant, a wide nasal bridge, a thin upper lip, and a short neck. In addition, she had complex congenital heart disease. Although there has been delay in growth and development, she has shown progress in both areas.

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