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trisomy 13 syndrome

 

Definition: a chromosomal disorder that is usually fatal within 2 years; characterized by mental retardation, malformed ears, cleft lip or palate, microphthalmia or coloboma, small mandible, polydactyly, cardiac defects, convulsions, renal anomalies, umbilical hernia, malrotation of intestines, and dermatoglyphic anomalies.

Synonym(s): Patau syndrome, trisomy D syndrome

Further information

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.

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