合計: 2 |
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PMID (PMCID) | ||
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25257307 |
FEMALE | |
Co-occurrence of non-mosaic trisomy 22 and inherited balanced t(4;6)(q33;q23.3) in a liveborn female: case report and review of the literature. | ||
Kehinde FI, Anderson CE, McGowan JE, Jethva RN, Wahab MA, Glick AR, Sterner MR Jr, Pascasio JM, Punnett HH, Liu J. Am J Med Genet A. 2014;164A(12):3187-93. |
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The proband manifested features commonly seen in individuals with non-mosaic trisomy 22 such as intrauterine growth retardation (IUGR), single umbilical artery, cranial abnormalities, short neck, cleft lip and palate, dysmorphic ears, hypoplastic nipples, digital malformation, congenital heart defects, dysplastic kidneys, and genital anomalies. | ||
15255116 |
MALE | |
Ocular manifestations of mosaic trisomy 22: a case report and review of the literature. | ||
Thomas S, Parker M, Tan J, Duckett D, Woodruff G. Ophthalmic Genet. 2004;25(1):53-6. |
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Patients with mosaic trisomy 22 usually present with intrauterine growth retardation, mental retardation, failure to thrive, and craniofacial asymmetry. |