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端着丝点染色体之间的易位有数种类型,它们是人类最常见的结构畸变。这类易位中的大多数是Robertson(着丝点融合)易位,而串联易位或倒置串联易位(后者可由两端的随体而识别),则甚罕见,而且大多数这类易位发生在非同源染色体之间,主要是14/21或13/14。本文报道的是第一例发生在第13染色体的一对同源染色体之间的串联易位。先证者是28月龄的白人女孩,足月产,婴儿在出生时外表正常。后来表现为智力迟钝,讲不了几个单字,更不会讲句子。在她1岁时住院有血尿。额突出,小眼,两侧内眦赘皮,宽鼻梁,头围比正常人小,颅神经
There are several types of telomere translocations, the most common structural aberrations in humans. Most of these translocations are Robertson translocations, which are rarely seen in tandem translocation or inversed tandem translocations (the latter can be recognized by both ends of a satellite), and most of these Occurs between non-homologous chromosomes, mainly 14/21 or 13/14. This article reports the first tandem translocation that occurs between a pair of homologous chromosomes on chromosome 13. The proband is a 28-month-old white girl with full-term birth and the baby looks normal at birth. Later manifested as mental retardation, can not speak a few words, but will not speak sentences. She was hospitalized with hematuria when she was 1 year old. The amount of prominent, small eyes, both sides of epicanthus, wide nose, head circumference smaller than normal, cranial nerves