- Achondrogenesis type II (Langer-Saldino achondrogenesis): a case report
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Lee HS, Doh JW, Kim CJ, Chi JG
- KMID: 965888
- J Korean Med Sci.
- 2000 Oct;15(5):604-608.
- doi: 10.3346/jkms.2000.15.5.604
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
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Lee YH, Ahn JM, Koo DH, Kwon KW, Lee YK, Lee HH, Nam KH, Lee KH
- KMID: 1099804
- J Korean Med Sci.
- 2003 Feb;18(1):112-113.
- doi: 10.3346/jkms.2003.18.1.112
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
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Jun SY, Khang SK, Park SH
- KMID: 1730652
- J Korean Med Sci.
- 2000 Aug;15(4):482-484.
- doi: 10.3346/jkms.2000.15.4.482
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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