Trisomy 18 mosaicism in two siblings |
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| Authors: | Ling-yu Shih Lillian Y. F. Ldsu Eva Sujansky Theodore Kushnick |
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| Affiliation: | Genetic Unit of the Department of Pediatrics, New Jersey Medical School and the Division of Medical Genetics, Department of Pediatrics, Mount Sinai School of Medicine of the City University of New York, U.S.A. |
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| Abstract: | Two siblings are presented displaying low Girth weight, marked microcephaly, severe mental and growth retardation, and convulsive disorder. Leukocyte and fibroblast cultures showed two cell lines, 46/ 47 ,+ 18 , The extra E group chromosome in 30 to 40% of the cells was identified as No. 18 by Q-banding and G-banding techniques. |
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