Abstract
The Authors describe a newborn with costal hypoplasia and vertebral malformation, tracheoesophageal fistula, congenital heart disease and closed hands with the second and third finger overlapping. Cytogenetic findings indicated trisomy 18 [47, XX, -1, +der(1), +der(18), t(1;18) (q1.2; p11.3)] inherited by mother's carried balanced translocation 1q/18.
Publication types
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Case Reports
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English Abstract
MeSH terms
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Abnormalities, Multiple*
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Chromosome Aberrations*
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Chromosome Disorders*
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Chromosomes, Human, Pair 18*
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Cytogenetics
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Female
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Fingers / abnormalities
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Hand Deformities, Congenital*
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Heart Defects, Congenital*
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Humans
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Infant, Newborn
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Pedigree
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Ribs / abnormalities*
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Spine / abnormalities*
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Tracheoesophageal Fistula / congenital
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Translocation, Genetic
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Trisomy*