Trisomy 18 mosaicism in a 24-year-old white woman with normal intelligence and skeletal abnormalities.
作者信息
Butler M G
出版信息
Am J Med Genet. 1994 Oct 15;53(1):92-3. doi: 10.1002/ajmg.1320530124.
Abstract
摘要
相似文献
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Trisomy 18 mosaicism in a 24-year-old white woman with normal intelligence and skeletal abnormalities.一名24岁智力正常但有骨骼异常的白人女性患有18三体嵌合体。
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Trisomy 18 mosaicism in a woman with normal intelligence, pigmentary dysplasia, and an 18 trisomic daughter.一名智力正常、患有色素发育异常且育有一名18三体女儿的女性存在18号染色体三体嵌合体。
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A CASE OF DOUBLE AUTOSOMAL TRISOMY WITH MOSAICISM: 48/XX (TRISOMY 18+21) AND 46/XX.一例伴有嵌合体的双常染色体三体综合征：48/XX（18号染色体三体+21号染色体三体）和46/XX。
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A history of miscarriages and mild prognathism as possible mode of presentation of mosaic trisomy 18 in women.流产史和轻度凸颌可能是女性嵌合型18三体综合征的表现方式。
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Mosaic trisomy 18 male with normal intelligence who fathered a normal baby girl.患有18号染色体镶嵌三体综合征的男性，智力正常，育有一名正常女婴。
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Trisomy 9 mosaicism in a girl with multiple malformations.一名患有多种畸形的女孩的9号染色体三体嵌合体。
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Transmission of a ring chromosome 18 from a mother with 46,XX/47,XX, + r(18) mosaicism to her daughter, resulting in a 46,XX,r(18) karyotype.一条18号环状染色体从一名具有46,XX/47,XX, + r(18)嵌合体的母亲遗传给她的女儿，导致女儿的核型为46,XX,r(18)。
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Skin pigment anomalies and mosaicism for a double autosomal trisomy (48,XX,+18,+20).皮肤色素异常与双常染色体三体（48,XX,+18,+20）的嵌合体现象。
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Normal development in two six-year-old boys born after prenatal diagnosis of trisomy 20 mosaicism.两名在产前诊断为20号染色体三体嵌合体后出生的六岁男孩发育正常。
Prenat Diagn. 1987 Oct;7(8):597-601. doi: 10.1002/pd.1970070810.
本文引用的文献
1
Trisomy 18 mosaicism in a thirteen-year-old girl with normal intelligence, delayed pubertal development, and growth failure.一名智力正常、青春期发育延迟且生长发育迟缓的13岁女孩存在18三体嵌合体。
Am J Med Genet. 1994 Mar 1;50(1):94-5. doi: 10.1002/ajmg.1320500121.
2
Parental mosaicism in trisomy 18.18三体综合征中的亲代嵌合体。
Pediatrics. 1972 Dec;50(6):908-11.
3
Trisomy 18 mosaicism in an adult with normal intelligence.一名智力正常的成年人存在18三体嵌合体。
Am J Med Genet. 1987 Apr;26(4):929-31. doi: 10.1002/ajmg.1320260423.
4
Trisomy 18 mosaicism in an adult woman with normal intelligence and history of miscarriage.一名智力正常且有流产史的成年女性的18三体嵌合体。
Hum Genet. 1990 Feb;84(3):298-9. doi: 10.1007/BF00200581.
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