一名患有10号环状染色体、先天性巨结肠和肾发育不全的新生儿。
A newborn with ring chromosome 10, aganglionic megacolon, and renal hypoplasia.
作者信息
Calabrese G, Franchi P G, Stuppia L, Mingarelli R, Rossi C, Ramenghi L, Marino M, Morizio E, Peila R, Antonucci A
机构信息
Istituto di Biologia e Genetica, Università di Chieti, Italy.
出版信息
J Med Genet. 1994 Oct;31(10):804-6. doi: 10.1136/jmg.31.10.804.
A newborn infant is reported who had aganglionic megacolon, renal hypoplasia, severe growth retardation, generalised hypotonia, and various dysmorphic features. Chromosome analysis of lymphocytes and fibroblasts showed a ring chromosome 10 with breakpoints at p13-15 and q26. AluI digestion showed that the ring chromosome was monocentric. FISH with an alpha satellite probe specific for chromosome 10 showed one signal only in about 20% of interphase nuclei. It is suggested that aganglionic megacolon could result from dynamic somatic mosaicism owing to loss of the ring chromosome.
据报道，有一名新生儿患有先天性巨结肠、肾发育不全、严重生长发育迟缓、全身肌张力减退以及各种畸形特征。对淋巴细胞和成纤维细胞进行染色体分析显示，存在一条10号环状染色体，断点位于p13 - 15和q26。AluI消化显示该环状染色体为单中心。用针对10号染色体的α卫星探针进行荧光原位杂交（FISH），结果显示在约20%的间期核中仅出现一个信号。提示先天性巨结肠可能是由于环状染色体丢失导致的动态体细胞镶嵌现象所致。
Zotero 插件