- Case Report
- A Case of "Cri-du-Chat" Syndrome.
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Hye Lyung Baik, Gui Sook Choi, Joon Cho, Moon Soo Park, Jin Keum Chang, Sung Woo Shin, Shin Yong Moon
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Clin Exp Pediatr. 1987;30(3):309-313. Published online March 31, 1987
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A case of Cri-du-Chat syndrome was presented which was characterized by typical cat cry, staring
gaze and other common deletion syndrome.
The karyotype of it was proved to be 46, XY, (5p_) and a brief review was added for this case.
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- Partial Trisomy10(q22~q26).
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Hyung Chai Kang, Sung Myun Woh, Dong Whan Lee, Sang Jhoo Lee, Shin Yong Moon
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Clin Exp Pediatr. 1986;29(12):1382-1386. Published online December 31, 1986
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Partial trisomy 10(q22-q26) is a extremely rare chromosomal anomaly.
The authors experienced a case of this syndrome in a female newborn infant. She showed
prominent occiput, flat face, blepharophimosis, hypertelorism, lowset ears, micrognathia,
high-arched palate, simian crease on Lt. palm & overlapping of the 5th finger over the 4th finger,
relatively great big toe, and single umbilical artery.Chromosomal study showed the abnormal
chromosome... |
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- Original Article
- Clinical Evaluation of Congenital Heart Disease in Down Syndrome.
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Sang Kyu Park, Young Hoon Kim, Son Moon Shin, Chung Il Noh, Jung Yun Choi, Yong Soo Yun, Cang Yee Hong, Kyoo Wan Choi, Shin Yong Moon
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Clin Exp Pediatr. 1986;29(10):1095-1103. Published online October 31, 1986
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The association of congenital heart disease in patients with Down syndrome has been
recognized for nearly 100 years. A wide variety of congenital heart diseases have been identified in these patients. This is the report of clinical evaluation of 105 patients with congenital heart disease in Down
syndrome, experienced at the Seoul National University Hospital, during past 6 years
from Jan. 1980... |
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