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8号染色体长臂缺失(无论是中间还是末端缺失)过去对确定同Langer—Giedion综合征(LGS)或毛发鼻指骨综合症Ⅱ型(TRP)之间的关系,人们有着极大的兴趣。Beighle等报道了首例8号染色体(p24)末端缺失;所描述的婴儿有多发性先天畸形而无明显的LGS临床迹象。有人报道了患LGS染色体畸变的病例,认为8 p24末端缺失。此后有人研究认为其区段从8 q24.2→qter,所含8 q24.3为LGS区带。
Long arm deletion on chromosome 8, either in the middle or in the absence of the end In the past, there was a great deal of interest in determining the relationship with Langer-Giedion syndrome (LGS) or hair nasal polyphagia syndrome (TRP). Beighle et al. Reported the first deletion of terminal chromosome 8 (p24); the described infants had multiple congenital malformations without significant clinical signs of LGS. Some cases of LGS chromosomal aberrations have been reported and the 8 p24 end is deleted. Since then some people think that the section from 8 q24.2 → qter, contains 8 q24.3 LGS zone.