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Case Report

Complete trisomy 14 mosaicism: first live-born case in Korea

Yun Jung Hur, Taegyu Hwang

Clin Exp Pediatr. 2012;55(10):393-396. Published online October 29, 2012

Trisomy 14 mosaicism is a rare chromosome disorder characterized by delayed development, failure to thrive, and facial dysmorphism. Only approximately 30 trisomy 14 mosaicism cases have been reported in the literature because trisomy 14 is associated with early spontaneous abortion. We report a case of a 17-month-old girl with abnormal skin pigmentation, delayed development, facial dysmorphism, and failure to thrive...

DOI: https://doi.org/10.3345/kjp.2012.55.10.393

A Case of Short Arm Deletion of Chromosome 14.

Ra Lee, Jin Choi, Woo Gill Lee, Chong Moo Park, Yong Kyun Paik

Clin Exp Pediatr. 1981;24(2):164-168. Published online February 15, 1981

We have experienced a case of short arm deletion of chromosome 14 (46, XY, del (14p)) in a 3y4 years old boy who had chief problems of mental retardation and microcephaly. This case was confirmed by chromosome analysis with various banding method. Dermatoglyphic analysis of the patient showed increased total ride counts die presence of whorl patterns and simian creases...

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