de Pater J M, Schuring-Blom G H, van den Bogaard R, van der Sijs-Bos C J, Christiaens G C, Stoutenbeek P, Leschot N J
Clinical Genetics Centre, Utrecht, The Netherlands.
Prenat Diagn. 1997 Jan;17(1):81-6. doi: 10.1002/(sici)1097-0223(199701)17:1<81::aid-pd29>3.0.co;2-v.
We report on a case of generalized mosaicism for trisomy 22. At chorionic villus sampling (CVS) in the 37th week of pregnancy, a 47,XX,+22 karyotype was detected in all cells. The indication for CVS was severe unexplained symmetrical intrauterine growth retardation (IUGR) and a ventricular septal defect (VSD) was noted. In cultured cells from amniotic fluid taken simultaneously, only two out of ten clones were trisomic. At term, a growth-retarded girl with mild dysmorphic features was born. Lymphocytes showed a normal 46,XX[50] karyotype; both chromosomes 22 were maternal in origin (maternal uniparental disomy). Investigation of the placenta post-delivery using fluorescence in situ hybridization showed a low presence of trisomy 22 cells in only one out of 14 biopsies. In cultured fibroblasts of skin tissue, a mosaic 47,XX,+22[7]/46,XX[25] was observed. Clinical follow-up is given up to 19 months.
我们报告一例22三体综合征的全身性嵌合体病例。在妊娠37周进行绒毛取样（CVS）时，所有细胞均检测到47,XX,+22核型。进行CVS的指征是严重的无法解释的对称性宫内生长受限（IUGR），并发现室间隔缺损（VSD）。在同时采集的羊水培养细胞中，十个克隆中只有两个是三体的。足月时，出生了一名生长发育迟缓、有轻度畸形特征的女孩。淋巴细胞显示正常的46,XX[50]核型；两条22号染色体均来自母亲（母源性单亲二体）。产后使用荧光原位杂交对胎盘进行检查，结果显示在14个活检样本中只有1个样本中22三体细胞的存在率较低。在皮肤组织的培养成纤维细胞中，观察到嵌合体47,XX,+22[7]/46,XX[25]。给出了直至19个月的临床随访情况。
