Goumy C, Beaufrère A M, Francannet C, Tchirkov A, Laurichesse Delmas H, Geissler F, Lemery D, Dechelotte P J, Vago P
Cytogénétique Médicale, CHU/Faculté de Médecine Clermont-Ferrand, France.
Prenat Diagn. 2005 Aug;25(8):653-5. doi: 10.1002/pd.1216.
We described a new case of mosaic isochromosome 20q revealed by amniocentesis. The propositus presented with craniofacial dysmorphism, clubfeet, and vertebral abnormalities. A 46,XX,i(20)(q10)[14]/46,XX[1] karyotype was confirmed by FISH on cultured cells. The pregnancy was terminated. From review of literature, fetus with mosaic isochromosome 20q identified on amniocentesis are most likely to be phenotypically and cytogenetically normal after birth. So we performed CGH and array-CGH to exclude another possible imbalance. We discuss here the possible relation between this chromosomal abnormality and the abnormal phenotype.
我们描述了一例经羊水穿刺发现的嵌合型20号染色体等臂染色体的新病例。先证者表现为颅面部畸形、马蹄内翻足和椎体异常。通过对培养细胞进行荧光原位杂交（FISH），证实了其核型为46,XX,i(20)(q10)[14]/46,XX[1]。该妊娠已终止。通过文献回顾发现，经羊水穿刺鉴定出嵌合型20号染色体等臂染色体的胎儿出生后在表型和细胞遗传学上最有可能是正常的。因此，我们进行了比较基因组杂交（CGH）和阵列比较基因组杂交（array-CGH）以排除其他可能的失衡情况。我们在此讨论这种染色体异常与异常表型之间的可能关系。
