Voiculescu I, Back E, Duncan A M, Schwaibold H, Schempp W
Hum Genet. 1987 Jul;76(3):298-301. doi: 10.1007/BF00283629.
A case of complete trisomy 22 in a live-born female child with multiple malformations is reported. The karyotype of the index patient had 46 chromosomes, with one chromosome 22 missing and one supranumerary metacentric chromosome. Different banding methods and in situ hybridization revealed that the extra chromosome consists of the long arms and a part of the short arms of two chromosomes 22. Our report supplies further proof that a fetus with complete trisomy 22 can occasionally survive to term, but the condition is not compatible with life over a long period.
报告了一例存活的患有多种畸形的女婴22号染色体完全三体的病例。索引患者的核型有46条染色体，其中一条22号染色体缺失，还有一条额外的中着丝粒染色体。不同的显带方法和原位杂交显示，额外的染色体由两条22号染色体的长臂和部分短臂组成。我们的报告进一步证明，患有22号染色体完全三体的胎儿偶尔可以足月存活，但这种情况无法长期存活。
