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Case Report
Atypical teratoid rhabdoid brain tumor in an infant with ring chromosome 22
Eun Hae Cho, Jae Bok Park, Jin Kyung Kim
Clin Exp Pediatr. 2014;57(7):333-336.   Published online July 23, 2014

Reports of constitutional ring chromosome 22, r(22) are rare. Individuals with r(22) present similar features as those with the 22q13 deletion syndrome. The instability in the ring chromosome contributes to the development of variable phenotypes. Central nervous system (CNS) atypical teratoid rhabdoid tumors (ATRTs) are rare, highly malignant tumors, primarily occurring in young children below 3 years of age. The...

A case of mosaic ring chromosome 13 syndrome
Soo Young Kim, Soo Min O, Mi Jeong Kim, Eun Song Song, Young Ok Kim, Young Youn Choi, Young Jong Woo, Tai Ju Hwang
Clin Exp Pediatr. 2009;52(2):242-246.   Published online February 15, 2009
The clinical features of ring chromosome 13 include mental and growth retardation, CNS anomalies, facial dysmorphism, cardiac defects, genital malformations, limb anomalies, skeletal deformities and anal malformations. Although many cases of ring chromosome 13 have been reported worldwide, only 6 cases have been reported in Korea, and the latter cases were not mosaic but pure ring chromosome 13. Here we...
Cytogenetic evaluation of a patient with ring chromosome 9 presenting failure to thrive and developmental delay
Yun Mi Park, Han Nae Nho, Sook Za Kim, Young Min Ahn
Clin Exp Pediatr. 2008;51(4):426-430.   Published online April 15, 2008
We report clinical, cytogenetic, and fluorescence in situ hybridization (FISH) studies of a patient with ring chromosome 9. She presented with failure to thrive, facial dysmorphysm and mild psychomotor development delay in the absence of major malformations. Peripheral blood karyotype of the patient was 46,XX,r(9)(p24q34). G-band analysis suggested no loss of material in the ring chromosomes. FISH analysis using the...
A Case of Ring Chromosome 20 with Mental Retardation and Epilepsy
Yeon Kyung Jung, Gyeong Hoon Lee
Clin Exp Pediatr. 2005;48(1):108-111.   Published online January 15, 2005
Ring chromosome 20 mosaicism [r(20)] is a rare chromosomal anomaly associated with minor dysmorphism, mental retardation, autistic behavior, and intractable epilepsy. The proposed mechanism of ring formation is breakage of both short and long arms of a chromosome with subsequent end-to- end fusion. We encountered an 18-month-old boy who presented with developmental delay and mental retardation with seizure episodes, but...
A Case of Ring Chromosome 21 with Multiple Congenital Anomalies
Jun-Hwa Lee, Eul-Ju Seo
Clin Exp Pediatr. 2003;46(3):291-294.   Published online March 15, 2003
Ring chromosome 21 causes a multitude of phenotypes, ranging from severe abnormalities to normal. The proposed mechanism of ring formation, breakage of both short and long arms of a chromosome with subsequent end to end fusion, remains unproven. We encountered a 4-year-old boy who presented developmental delay, microcephaly, micrognathia, hypertelorism, low-set ears, mild optic nerve hypoplasia, cleft lip and palate,...
A Case of D13 Ring Chromosome Syndrome
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.
Original Article
A case of 13-ring chromosome syndrome.
Jong Soo Lee, Yong Tae Jung, Byung Hak Lim, Im Ju Kang
Clin Exp Pediatr. 1991;34(12):1736-1739.   Published online December 31, 1991
We have experienced a case of 13-ring chromosome syndrome in 9 month old girl who had microcephaly, trigonocephaly, hypertelorism, microophthalmia, broad prominent nasal bridge, high arched palate & speech defect. On X-ray study, brain computerized tomograpy showed Dandy-Walker variant. Chromosome study revealed 13-ring chromosome. Her mother had mild mental retardation, short stature, microcephaly, trigonocephaly, hypertelorism and micrognathia. A brief review of the literatures was also...
A Case of Multiple Congenital Abnormalities Associated with Ring Chromosome 13.
Yung Hyuk Lee, Dong Won Choi, Chang Jun Coe, Kir Young Kim
Clin Exp Pediatr. 1988;31(4):506-510.   Published online April 30, 1988
A case of ring chromosome 13 has been experienced in 1 year and 9 month old female child recently. This female child manifested psychomotor retardation and multiple congenital anomalies. The diagnosis was made on the basis of typical morphologic features and chromosome study. As this is the first case in Korea, it is worthwhile to report with reviewing literature.
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