- Case Report
- A Case of Dominantly Inherited β Thalassemia
Due to Hb Dieppe
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You Kyoung Choi, Hong Jin Lee, Won Il Park, Kyung Ja Lee, Sung Ha Kang, Ji Yeon Kim, Sung Sup Park
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Clin Exp Pediatr. 2002;45(5):659-663. Published online May 15, 2002
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β thalassemias are usually transmitted as autosomal recessive traits. However, some dominant forms of β thalassemia have been identified in individuals who have inherited a single copy of an abnormal β globin gene. Thalassemia intermedia with mild anemia, jaundice, and splenomegaly has been observed in these patients. Electrophoresis has shown elevated Hemoglobin(Hb) A2 and Hb F levels. In particular, there... |
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- A Case of Unusual (1q;21q) Translocation Down Syndrome Inherited from a t(1q;21q) Balanced Carrier Mother
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Dong Hoon Yi, Jae Ock Park, Sang Mann Shin, You Kyoung Lee, Won Bae Kim, Won Bae Lee, Sung Sup Park, Han-Ik Cho
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Clin Exp Pediatr. 1997;40(8):1156-1161. Published online August 15, 1997
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Down syndrome is the most common autosomal syndrome in man. The incidence of trisomy 21
due to translocation is about 3.5-5%. Translocations are usually centric fusions between a 21 and a
D group (54.2%) or a G group (40.9%) chromosome. Since the short arm of 21 carries no phenotypically
active genes, even if the short arm of 21 is lost, usually there is... |
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