GONADAL MOSAICISM IN PSEUDOACHONDROPLASIA
GONADAL MOSAICISM IN PSEUDOACHONDROPLASIA
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DOI：
10.1002/ajmg.1320280121
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发表时间：
1987-09-01
期刊：
影响因子：
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通讯作者：
MCKUSICK, VA
中科院分区：
文献类型：
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作者：
HALL, JG;DORST, JP;MCKUSICK, VA
我们报告一个家庭，其中一个兄弟姐妹有假性软骨发育不全和正常的父母。哥哥娶了一个正常的女人，他们有两个女儿;其中一个有典型的假性软骨发育不全的变化，另一个是正常的。在这个家庭中最可能的解释是在祖父母之一的性腺（生殖细胞）镶嵌。其他可能的常染色体隐性假软骨发育不全的报告进行审查。可能是性腺镶嵌性导致了一小部分假性软骨发育不全的新突变。
We report on a family in which a brother and sister have pseudoachondroplasia and normal parents. The brother married a normal woman, and they have 2 daughters; one of them has typical changes of pseudoachondroplasia, the other is normal. The most likely explanation in this family is gonadal (germinal cell) mosaicism in one of the grandparents. Other reports of possible autosomal recessive pseudoachondroplasia are reviewed. It is likely that gonadal mosaicism is responsible for a small percentage of cases with what appears to be a new mutation for pseudoachondroplasia.