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Case Report
A Case of Dominantly Inherited β Thalassemia Due to Hb Dieppe
You Kyoung Choi, Hong Jin Lee, Won Il Park, Kyung Ja Lee, Sung Ha Kang, Ji Yeon Kim, Sung Sup Park
Clin Exp Pediatr. 2002;45(5):659-663.   Published online May 15, 2002
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...
A Case of Unusual (1q;21q) Translocation Down Syndrome Inherited from a t(1q;21q) Balanced Carrier Mother
Dong Hoon Yi, Jae Ock Park, Sang Mann Shin, You Kyoung Lee, Won Bae Kim, Won Bae Lee, Sung Sup Park, Han-Ik Cho
Clin Exp Pediatr. 1997;40(8):1156-1161.   Published online August 15, 1997
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...