源自母体t(3;20)易位的20号染色体短臂三体。
Trisomy 20p from maternal t(3;20) translocation.
作者信息
Archidiacono N, Tecilazich D, Tonini G, Rocchi M, Filippi G
出版信息
J Med Genet. 1979 Jun;16(3):229-32. doi: 10.1136/jmg.16.3.229.
Abstract
A case of trisomy 20p resulting from a maternal translocation t(3;20) is described. QM and BUdR banding techniques were used for its identification. A round face with oblique palpebral fissures, strabismus, cardiac and vertebral abnormalities, mild psychomotor retardation, together with poor coordination and speech impediment, are the most typical features of the proband.
摘要
本文描述了一例因母亲发生t(3;20)易位导致的20号染色体短臂三体病例。采用了喹吖因和5-溴脱氧尿苷显带技术对其进行鉴定。该先证者最典型的特征为圆脸、睑裂倾斜、斜视、心脏和脊柱异常、轻度精神运动发育迟缓，以及协调性差和言语障碍。
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Trisomy 20p from maternal t(3;20) translocation.源自母体t(3;20)易位的20号染色体短臂三体。
J Med Genet. 1979 Jun;16(3):229-32. doi: 10.1136/jmg.16.3.229.
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本文引用的文献
1
[Staining of human chromosomes with acridine orange after treatment with 5 bromodeoxyuridine].[用5-溴脱氧尿苷处理后人类染色体的吖啶橙染色]
C R Acad Hebd Seances Acad Sci D. 1973 Jun 13;276(24):3179-81.
2
Nonrandom distribution of chromosome breaks in cultured lymphocytes of normal subjects.正常受试者培养淋巴细胞中染色体断裂的非随机分布。
Hum Genet. 1976 Feb 29;31(2):161-75. doi: 10.1007/BF00296144.
3
Familial trisomy 20p five cases and two carriers in three generations a review.
Ann Genet. 1977 Jun;20(2):77-83.
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