Sung Lae Park, Ho Jun Im, Jae Hun Shin, Hahng Lee, Myung Soo Lyu, Yong Kyun Paik
Clin Exp Pediatr. 1992;35(5):713-717. Published online May 15, 1992
A case of D13 Ring Chromosome Syndrome, confirmed by chromosome study, was described. She was 8 years and 4 months old, and menifested facial abnormalities, psychomotor retardation and other multiple congenital abnormalities.
Mee Na Lee, Jong Su Chun, Soo Kyung Choi, Yong Kyun Paik
Clin Exp Pediatr. 1991;34(7):907-911. Published online July 31, 1991
Phenotypes and • gene frequencies in cord blood samples of 543 newborns were studied for Pi
phenotypes for the purpose of estimating the risk of diseases associated with genetic deficiency of
alpha-1 antitrypsin. Pi phenotypes were performed by polyacrylamide gel separator isoelectric
focusing method. The allele frequencies obtained were as follows:'PiM!=0.7670, M2=0.1796 M3=0.
0506, G=0.0018,/P=0.0009. There were no alleles causing severe deficiency such as...
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...
