Total: 2 |
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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. | ||
7161117 |
MIXED_SAMPLE | Infant, Newborn |
Retinoblastoma and chromosome 13 deletion. | ||
Gencik A, Auf der Maur P, Gencikova A, Lutschg J. Helv Paediatr Acta. 1982;37(5):457-64. |
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The clinical pictures of both children corresponded to the moderate extent of the deletions, with both somatic and mental retardation in both children, and mild phenotypic manifestations (hypertelorism, slight epicanthi, mild facial hirsutism, and partial syndactyly in the child with unilateral retinoblastoma). |