Abstract
We report on a newborn girl with multiple congenital anomalies, whose G-banded chromosome analysis showed complete trisomy 22. Chromosome painting using a whole-chromosome painting probe for chromosome 22 confirmed that neither chromosome 22 was involved in a cryptic translocation.
MeSH terms
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Abnormalities, Multiple / genetics*
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Chromosome Banding
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Chromosomes, Human, Pair 22*
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Cleft Lip / genetics
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Cleft Palate / genetics
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Ear, External / abnormalities
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Female
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Humans
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In Situ Hybridization, Fluorescence
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Infant, Newborn
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Tetralogy of Fallot / genetics
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Trisomy*