Prenatal diagnosis of trisomy 12 mosaicism: Physical and developmental follow-up |
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| Authors: | Jeanne M Meck PhD Chahira Kozma Jean-Gilles Tchabo Jeffrey C King Shaun Lencki Thomas L Pinckert |
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| Institution: | 1. Child Development Center, Department of Pediatrics, Georgetown University Medical Center, Washington, DC 20007, U.S.A;2. Department of Obstetrics and Gynecology, Georgetown University Medical Center, Washington, DC 20007, U.S.A;3. Division of Genetics, Department of Obstetrics and Gynecology, Georgetown University Medical Center, Washington, DC 20007, U.S.A |
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| Abstract: | Follow-up evaluations were performed on a child at the ages of 2 years 8 months and also at 5 years who had been found on prenatal amniocentesis to be mosaic for trisomy 12. Eight of 36 colonies (22 per cent) were trisomy 12 at amniocentesis, with the remaining colonies showing a normal female karyotype. Cord blood, amnion, chorion, placental, and skin fibroblast chromosome studies failed to show any further evidence of a trisomy 12 cell line. At her evaluations, the child had normal physical and neurological findings. Psychomotor development was appropriate for age on screening. |
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| Keywords: | Trisomy 12 mosaicism amniocentesis prenatal diagnosis pigmentary changes |
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