J Korean Pediatr Soc.  1981 Aug;24(8):791-796.

A Case of 18-Trisomy Mosaicism with Parental Mosaicism

Affiliations
  • 1Department of pediatrics, College of Medicine, Yonsei University, Korea.

Abstract

A case of 18-Trisomy mosaicism in a male newborn infant who was born to a mother of 27 years old at Cheil Hospital was presented. This baby had grossly multiple anomalies that were characterized by prominatn occiput, microhpthalmia, palpebral fissure, micrognathia, high arched palate, low set ears, undescended testes, limitation of abduction of hip joint, syndactylism of finger, and overlapping of finger. We have been confirmedby chromosome culture and his mother chromosomal analysis revealed sex chromosomal mosaicism (45xo/46xxx). This is the first case report of 18-Trisomy mosaicism with parental mosaicism in Korea. A brief review of related literature is also pressented.

Keyword

18-Trisomy Mosaicism
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