Trisomy 13

Trisomy 13 is a chromosomal anomaly caused by the presence of an extra chromosome 13 and is characterized by brain malformations (holoprosencephaly), facial dysmorphism, ocular anomalies, postaxial polydactyly, visceral malformations (cardiopathy) and severe psychomotor retardation.

Micrognathia

Developmental hypoplasia of the mandible.


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PMID (PMCID)
7573156
 MALE Infant
Partial trisomy 13q identified by sequential fluorescence in situ hybridization.
Rao VV, Carpenter NJ, Gucsavas M, Coldwell J, Say B.
Am J Med Genet. 1995;58(1):50-3.
The infant presented with omphalocele, malrotation, microcephaly with overriding skull bones, micrognathia, apparently low-set ears, rocker-bottom feet, and congenital heart disease, findings suggestive of trisomy 13.