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Achondrogenesis type II (Langer-Saldino achondrogenesis): a case report

Lee HS, Doh JW, Kim CJ, Chi JG

Achondrogenesis is a lethal form of congenital chondrodystrophy characterized by extreme micromelia. We describe a case of achondrogenesis type II (Langer-Saldino achondrogenesis) detected by prenatal ultrasonography at 20-week gestation. A...
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Partial Trisomy 2q(2q37.3->qter)and Monosomy 7q(7q34->qter) Due to Paternal Reciprocal Translocation 2;7: A Case Report

Lee YH, Ahn JM, Koo DH, Kwon KW, Lee YK, Lee HH, Nam KH, Lee KH

We report an unbalanced translocation involving chromosome 2 and 7 due to a balanced reciprocal translocation 2;7 in the father. The female fetus had a partial trisomy of the long...
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An autopsy case of Adams-Oliver syndrome

Jun SY, Khang SK, Park SH

We report an autopsy case of a male fetus with Adams-Oliver syndrome. His mother was a healthy, 31-year-old woman and her family and past histories were unremarkable. Therapeutic termination was...
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