合計: 1 |
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PMID (PMCID) | ||
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16523519 |
MIXED_SAMPLE | |
Fetus with two identical reciprocal translocations: description of a rare complication of consanguinity. | ||
Martinet D, Vial Y, Thonney F, Beckmann JS, Meagher-Villemure K, Unger S. Am J Med Genet A. 2006;140(7):769-74. |
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At autopsy, the following anomalies were found: Pierre-Robin sequence, hypoplasia of the right ventricle with muscular hypertrophy, and endocardial fibroelastosis, hypoplastic lungs, dysplastic left kidney, bilateral pelvicalyceal dilatation, central nervous system periventricular heterotopias and right sided club foot. |