PDF(Pubmed)
Abstract：
Complete trisomy 22 is a rare chromosomal condition that is incompatible with life. However, mosaic trisomy 22 usually has prolonged survival compatibility and may present a good prognosis depending on the tissues affected. Herein, we described a male patient with the occurrence of mosaic trisomy 22 associated with the inversion of chromosome 9, with karyotype 47, XY, inv (9) (p11q13), + 22 [5] / 46, XY, inv(9) (p11q13) [45] and arr 22q11.1 ~ q13.33(16,417008-51,219,009)x2 ~ 3. It is not possible to infer, in general, the clinical characteristics associated with mosaic trisomy 22. However, the patient presented common clinical features observed in reported cases (in parentheses the percentage observed comparing all reported cases): facial dysmorphia (100%), delay in motor development/growth (82%), cardiac abnormalities (73%), ear abnormalities (55%) and facial and/or body asymmetry (55%), in addition to hypotonia, skin spots, hypoplastic nails. Given the survival and quality of life associated with multidisciplinary treatment, it can be concluded that the patient has a good prognosis. Conclusively, we\'re presenting the occurrence of mosaic trisomy 22 and chromosome 9 inversion in the patient with favorable prognosis. Thus, this study proposed a guide which should be inserted in databases of rare genetic conditions to help genetic counselors define mosaic trisomy 22 diagnosis.
摘要：
完全三体性22是一种罕见的染色体疾病，与生命不相容。然而,镶嵌三体22通常具有延长的生存相容性，并且可能根据受影响的组织提供良好的预后。在这里，我们描述了一个男性患者，与染色体9倒置相关的镶嵌三体22的发生，与染色体47，XY，inv（9）（p11q13），+22[5]/46,XY,inv（9）（p11q13）[45]和arr22q11.1~q13.33（16,417008-51,219,009）x2~3。无法推断,总的来说,与马赛克三体22相关的临床特征。然而,患者表现出在报告病例中观察到的共同临床特征(括号中为观察到的比较所有报告病例的百分比):面部畸形(100%),运动发育/生长延迟（82%），心脏异常（73%），耳朵异常（55％）和面部和/或身体不对称（55％），除了张力减退,皮肤斑点,发育不良的指甲。鉴于与多学科治疗相关的生存和生活质量，可以得出结论，患者预后良好。最后，我们提出了在预后良好的患者中发生镶嵌22三体和9号染色体倒位。因此，这项研究提出了一个指南，该指南应插入到罕见遗传条件的数据库中，以帮助遗传咨询师定义马赛克三体性22诊断。
