| A case of 13-ring chromosome syndrome. |
|
Jong Soo Lee, Yong Tae Jung, Byung Hak Lim, Im Ju Kang |
|
Department of Pediatrics, Fatima Hospital, Taegu, Korea |
| 모체에서 유전된 13 환 염색체 증후군 1례 |
|
이종수, 정용태, 임병학, 강임주 |
|
대구파티마병원소아과 |
|
Received: 10 May 1991 • Accepted: 25 July 1991 |
|
|
| Abstract |
|
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 presented.
|
| Key Words:
13-ring chromosome syndrome |
|
PDF Links
Download Citation
