Milunsky J, Maher T, Lebo R, Milunsky A
Center for Human Genetics and Department of Pediatrics, Boston University School of Medicine, Mass 07118-7394, USA.
Fetal Diagn Ther. 1998 May-Jun;13(3):167-8. doi: 10.1159/000020831.
We report prenatal diagnostic studies for metaphyseal chondrodysplasia of the Schmid type. Identification of a specific COL10A1 gene mutation in an affected father allowed prenatal diagnosis by chorionic villus sampling in a twin pregnancy. Neither of the nonidentical twins received the abnormal COL10A1 gene from their affected father. This result was confirmed by postnatal DNA analysis. Prenatal diagnosis can be offered to all families with characterized COL10A1 gene mutations.
我们报告了关于施密德型干骺端软骨发育不良的产前诊断研究。在一名患病父亲中鉴定出特定的COL10A1基因突变，从而能够通过绒毛取样对双胎妊娠进行产前诊断。这对非同卵双胞胎均未从患病父亲那里遗传到异常的COL10A1基因。产后DNA分析证实了这一结果。对于所有具有已明确的COL10A1基因突变的家庭，均可提供产前诊断。
