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patau's syndrome
Patau syndrome, also known as trisomy 13, is a chromosomal abnormality, a syndrome in which a patient has an additional chromosome 13 due to a non-disjunction of chromosomes during meiosis. The extra chromosome 13disrupts the normal course of development, causing the characteristicfeatures of Patau syndrome. Like all non-disjunction diseases (Down syndrome, Edwards syndrome,etc...) the risk of disease in the offspring increases with maternalage at pregnancy. Patau syndrome affects approximately 1 in 15,000 livebirths.
Causes
Most cases of Patau's syndrome result from trisomy13, which means each cell in the body has three copies of chromosome 13instead of the usual two copies. A small percentage of cases occur whenonly some of the body's cells have an extra copy of chromosome 13,resulting in a mixed population of cells with a differing number ofchromosomes, such cases are called mosaic Patau.
Patau syndrome can also occur when part of chromosome 13 becomesattached to another chromosome (translocated) before or at conception.Affected people have two copies of chromosome 13, plus extra materialfrom chromosome 13 attached to another chromosome. With atranslocation, the person has a partial trisomy for chromosome 13 andoften the physical signs of the syndrome differ from the typical Patausyndrome.
Most cases of Patau syndrome are not inherited, but occur as randomevents during the formation of reproductive cells (eggs and sperm). Anerror in cell division called non-disjunction can result in reproductive cells with an abnormal number of chromosomes. For example, an egg or spermcell may gain an extra copy of chromosome 13. If one of these atypicalreproductive cells contributes to the genetic makeup of a child, thechild will have an extra chromosome 13 in each of the body's cells.
Mosaic Patau syndrome is also not inherited. It occurs as a random error during cell division early in fetaldevelopment. As a result, some of the body's cells have the usual twocopies of chromosome 13, and other cells have three copies of thechromosome.
Patau syndrome due to a translocation can be inherited. Anunaffected person can carry a rearrangement of genetic material betweenchromosome 13 and another chromosome. This rearrangement is called abalanced translocation because there is no extra material fromchromosome 13. Although they do not have signs of Patau syndrome,people who carry this type of balanced translocation are at anincreased risk of having children with the condition.
PrognosisMost embryos with trisomy 13 do not survive gestation and arespontaneously aborted. Of those surviving to term gestation,approximately 82-85% do not survive past 1 month of age, and 85% do notsurvive past 1 year of age.[1] Certain malformations, especially holoprosencephalyand other central nervous system malformations, yield a more graveprognosis. Of those infants that survive past 1 year, most have fewmajor malformations, but the prognosis remains poor, owing to multiplefactors including long term neurological disability, feedingdifficulty, and frequent pneumonia and other respiratory infections. Currently there are over 66 survivors of some form or another of Trisomy 13.
Manifestations and physical findingsOf those embryos that do survive to gestation and subsequent birth, common anomalies include:
chinese information
http://www.dxy.cn/bbs/actions/archive/post/1220223_1.html
http://www.dxy.cn/bbs/post/view?bid=197&id=9296424&tpg=1&ppg=1&sty=1&age=0#9296424
漫舞天涯
女性患者,36岁,G3P1,孕15周,常规超声检查。
既往体健,第一个孩子已12岁,健康。
4x9 said
女性患者,36岁,G3P1,孕15周,常规超声检查。
既往体健,第一个孩子已12岁,健康。
诊断:全前脑畸形
奇动脉
羊膜带综合征
羊水过多
眼距窄
是否有体内大动脉畸形(13,14图)没看明白.
依据:典型的单一丘脑,重度的脑积水(此病往往有颜面畸形,此病人虽然 无单眼畸形,但眼距过窄.
羊膜带综合征.羊水多与奇动脉是胎儿畸形的姐妹(不知这样说对不对).遇到胎儿畸形要注意是否有上述病伴行.
tjf1 said
考虑:全前脑(第6、7、8图示未见脑中线、丘脑融合、大量脑积水)。
眼距过近。
鼻子较大、形态异常(鼻骨短小或缺如,第3、4、16、17图中示)。
小下颌可能。
单脐动脉(第11、12图示)。
羊膜、绒毛膜未融合(大部分二维图中均可见到)。
符合13-三体综合征,最后一图中胎儿双上肢可见,未见明显形态异常,双下肢图中未示。图13及图14中的血流没看明白,高手指教下?谢谢。
漫舞天涯
经引产证实:
1前脑无裂畸形:无叶全前脑、单一侧脑室高度扩张,丘脑融合,胼胝体缺如等。
2颜面部多发畸形:眼距过近,眼眶窄小,小下颌 ,鼻骨缺如,大鼻单空状。小耳低位。
3 颈部水肿
4部分肠管壁可见质硬的钙化灶
5 单一脐动脉
6 羊膜-绒毛膜未融合
临床综合考虑为13-三体综合征。
[ 本帖最后由 zhangheng1020 于 2007-10-25 13:47 编辑 ] |
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