Hales H A, Peterson C M, Carey J, Hecht B K, Hecht F
Department of Obstetrics and Gynecology, University of Utah Medical Center, Salt Lake City 84132.
Am J Med Genet. 1993 Nov 1;47(6):848-51. doi: 10.1002/ajmg.1320470610.
We present prenatal diagnosis and follow-up examination of an individual with a de novo paracentric inversion of the long are of chromosome 14. A literature search documented 19 other cases of paracentric inversion of 14q. The outcome of each of these cases is specified together with that of this current case. Four of the 20 cases, all XY, manifested significant abnormalities with mental retardation and microcephaly present in 3 of the 4 cases; 15% (2/13) of familial cases had abnormalities and 40% (2/5) of de novo cases had abnormalities.
我们报告了一例14号染色体长臂新发臂内倒位个体的产前诊断及随访检查。文献检索记录了另外19例14q臂内倒位的病例。这些病例中的每一例结果以及本病例的结果都有详细说明。20例病例中有4例，均为XY，表现出明显异常，其中4例中有3例存在智力发育迟缓及小头畸形；13例家族性病例中有15%（2/13）有异常，5例新发病例中有40%（2/5）有异常。
