Total: 2 |
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PMID (PMCID) | ||
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14755408 |
FEMALE | Adult |
Clinical, cytogenetic, and molecular findings of prenatally diagnosed mosaic trisomy 4. | ||
Chen CP, Chern SR, Lee CC, Chang TY, Wang W, Tzen CY. Prenat Diagn. 2004;24(1):38-44. |
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Phenotypic findings included tetralogy of Fallot, hypertelorism, micrognathia, abnormal ears, duplicated phalanges of the left thumb, clinodactyly, and overlapping of the toes. | ||
4050848 |
MIXED_SAMPLE | Adult |
An autosomal dominant syndrome of characteristic facial appearance, preauricular pits, fifth finger clinodactyly, and tetralogy of Fallot. | ||
Jones MC, Waldman JD. Am J Med Genet. 1985;22(1):135-41. |
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This report describes six relatives with a syndrome of mild prenatal-onset growth deficiency, an altered craniofacial appearance, preauricular pits, and clinodactyly of the fifth finger; three had tetralogy of Fallot. |