A Case of Ring Chromosome 21 with Multiple Congenital Anomalies
Journal of the Korean Pediatric Society
;
: 291-294, 2003.
Article
in Korean
| WPRIM
| ID: wpr-44747
ABSTRACT
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, scoliosis and left foot valgus, but normal brain MRI. Chromosome study from peripheral blood showed 46,XY, r(21)(p11.2q22.1) karyotype. The authors report the first case of ring chromosome 21 in Korea with a review of the literature.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Optic Nerve
/
Palate
/
Phenotype
/
Arm
/
Ring Chromosomes
/
Scoliosis
/
Brain
/
Magnetic Resonance Imaging
/
Cleft Lip
/
Ear
Limits:
Child, preschool
/
Humans
/
Male
Country/Region as subject:
Asia
Language:
Korean
Journal:
Journal of the Korean Pediatric Society
Year:
2003
Type:
Article
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