合計: 1 |
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PMID (PMCID) | ||
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20814946 |
MIXED_SAMPLE | Adult |
Tissue-limited mosaicism for monosomy 13. | ||
Golabi M, James AW, Good WV, Cotter PD. Am J Med Genet A. 2010;152A(10):2634-9. |
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Comparison of the previously reported patients with the patient reported here defines a common phenotype for tissue-limited mosaicism for monosomy 13 consisting of prenatal-onset growth deficiency; microcephaly; facial abnormalities including prominent nasal bridge, hypertelorism, ptosis, epicanthal folds, microphthalmia, coloboma, retinoblastoma, prominent maxilla, micrognathia, and low-set ears; limb abnormalities including small to absent thumbs, clinodactyly of fifth finger, fused metacarpal bones 4 and 5, talipes equinovarus, and short first toe; cardiac defect; renal anomalies; and genitalia abnormalities including hypospadias and cryptorchidism. |