Prenatally detected trisomy 7 mosaicism in a dysmorphic child |
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Authors: | Sirpa Kivirikko Riitta Salonen Armi Salo Harriet von Koskull |
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Institution: | 1. Department of Clinical Genetics, Helsinki University Central Hospital, Helsinki, Finland;2. Department of Obstetrics and Gynecology, Prenatal Genetics, Helsinki University Central Hospital, Helsinki, Finland;3. United Laboratories Ltd, Helsinki, Finland |
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Abstract: | Trisomy 7 mosaicism was detected prenatally in cultured amniocytes but not in fetal lymphocytes. The child that was born had pigmentary changes of the skin and facial asymmetry suggestive of a chromosomal mosaicism. Skin fibroblasts were studied and trisomy 7 mosaicism was confirmed. At 3 years of age the boy had developed mentally within normal limits. However, dysmorphic findings include sparse hair, short leftpalpebral fissure, ptosis of the left eyelid, strabismus, enamel dysplasia, low-set and posteriorly rotated ears and undescended testes. These findings share some common features with previously reported cases of trisomy 7 mosaicism. Copyright © 2002 John Wiley & Sons, Ltd. |
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Keywords: | chromosome mosaicism trisomy 7 prenatal diagnosis hypomelanosis of Ito |
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