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Pediatric Education and Research 4(2):p 97-99, May-Aug 2016. | DOI: DOI: https://dx.doi.org/10.21088/per.2321.1644.4216.10
Case Report
Partial Trisomy of 13q and Partial Monosomy of 6q; A Patau Syndrome Variant
Pooja Totla* , Pooja Totla* , S.P. Rathi** , S.V. Kondekar***
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Pediatric Education and Research 4(2):p 97-99, May-Aug 2016. | DOI: DOI: https://dx.doi.org/10.21088/per.2321.1644.4216.10
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Abstract
Trisomy 13 often presents with classical features of Patau Syndrome. Atypical features are likely to suggest a mixed phenotype; like associated 6q monosomy. In this case, skeletal features associated with 6q monosomy domnated the phenotype.
Keywords: Patau Syndrome; Phenotype.
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DOI: DOI: https://dx.doi.org/10.21088/per.2321.1644.4216.10
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