Article
Molecular cytogenetic characterization of a de novo unbalanced translocation leading to trisomy 17q25-->qter and monosomy 18p11.3-->pter in a girl with dysmorphic features.
Clinical dysmorphology - 1 Jan 2003
Velagaleti Gopalrao V N, Jalal Syed M, Michaelis Ron C, Rowe Thomas F, Nichols Jerilynn R, Lockhart Lillian H
Abstract excerpt
An 18-year-old, gravida 1 underwent percutaneous umbilical blood sampling (PUBS) because of positive triple screen, oligohydramnios and markedly short fetal bones. Chromosome analysis showed an abnormal chromosome 18 with unidentified chromatin at the end of the p-arm. Parental karyotypes were normal. FISH analyses with wcp18 showed additional material of unknown origin on the derivative chromosome 18. Further...
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