A Case of 18 Ring Chromosome
Journal of the Korean Pediatric Society
;
: 683-686, 2001.
Article
in Korean
| WPRIM
| ID: wpr-163495
ABSTRACT
A ring 18 chromosome(18r) karyotype is a rare disorder characterized by short stature, obesity, microcephaly, mental retardation, micropenis, cryptorchidism, hypertelorism, epicanthal folds, micrognathia, and small hands with short tapering fingers. A 22-month-old girl was referred to our department of pediatrics because of ptosis and delayed development. Karyotype revealed ring 18 and dicentric ring 18 chromosome(46,XX,r(18)[45]/45,XX,-18[7]/46,XX,dic r(18)[3]). Fluorescent in situ hybridization with 18 centromeric probe showed 18 ring chromosome with 1 signal and 18 dicentric ring chromosome with 2 signals. We report a case of a ring 18 chromosome diagnosed by karyotype and fluorescent in situ hybridization.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pediatrics
/
Ring Chromosomes
/
In Situ Hybridization, Fluorescence
/
Cryptorchidism
/
Karyotype
/
Fingers
/
Hand
/
Hypertelorism
/
Intellectual Disability
/
Microcephaly
Limits:
Female
/
Humans
/
Infant
/
Male
Language:
Korean
Journal:
Journal of the Korean Pediatric Society
Year:
2001
Type:
Article
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