Trisomy 18 mosaicism with complete peripheral lymphocyte trisomy and normal intelligence
作者:
David A. Graham,
Monique M. Jewitt,
Peter H. Fitzgerald,
期刊:
Clinical Genetics
(WILEY Available online 1992)
卷期:
Volume 41,
issue 1
页码: 36-38
ISSN:0009-9163
年代: 1992
DOI:10.1111/j.1399-0004.1992.tb03626.x
出版商: Blackwell Publishing Ltd
关键词: mosaicism;trisomy 18
数据来源: WILEY
摘要:
Graham DA, Jewitt MM, Fitzgerald PH. Trisomy 18 mosaicism with complete peripheral lymphocyte trisomy and normal intelligence. Clin Genet 1992:41: 36–38.We report a patient with trisomy 18 in all peripheral lymphocytes, mosaicism in cultured fibroblasts, mild nonspecific dysmorphic features, and normal intelligence. Trisomy 18 mosaicism with complete peripheral lymphocytic trisomy has not been previously described. The karyotype of lymphocytes is not diagnostic in the absence of congruent morphologic feature
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