| A Case of 18 Ring Chromosome |
|
Joong Hyun Bin, Moon Young Song, In Goo Lee, Won Bae Lee, Byung Churl Lee |
|
Department of Pediatrics, College of Medicine, The Catholic University of Korea |
| 18 윤상 염색체 1례 |
|
빈중현, 송문영, 이인구, 이원배, 이병철 |
|
가톨릭대학교 의과대학 소아과학교실 |
|
|
|
|
| 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. |
| Key Words:
18 ring, Dicentric ring, Fluorescent in situ hybridization |
|
PDF Links
Download Citation
