A pair of siblings with diastrophic dysplasia and E trisomy mosaicism
A mixture of clinical signs seen in diastrophic dysplasia as well as in trisomy 18 was found in two siblings with an E trisomy mosaicism. The E trisomy mosaicism was present in blood and skin during the first years of life, but disappeared later on.
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Published in | Human heredity Vol. 34; no. 4; p. 266 |
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Main Authors | , , , |
Format | Journal Article |
Language | English |
Published |
Switzerland
01.01.1984
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Subjects | |
Online Access | Get more information |
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Summary: | A mixture of clinical signs seen in diastrophic dysplasia as well as in trisomy 18 was found in two siblings with an E trisomy mosaicism. The E trisomy mosaicism was present in blood and skin during the first years of life, but disappeared later on. |
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ISSN: | 0001-5652 |
DOI: | 10.1159/000153477 |