Chromosomal Disorders

Trisomy 13 Syndrome is a chromosomal disorder resulting in a syndrome characterized by specific (midline) dysmorphic features and organ malformations. Trisomy 13 occurs in one out of every 4,000 to 10,000 live births and affects the thirteenth set of chromosomes. Advanced maternal age is the contributing risk factor to Trisomy 13. Genetics contribute to seventy-five percent of all cases. A single defect during the first three weeks of development of the prechordal mesoderm can lead to morphologic defects of the midface, eyes, and forebrain and induction defects on the prosencephalon (cerebral hemispheres, diencephalon, hypothalamus, thalamus). Some facial abnormalities generally associated with Trisomy13 are: microcephaly with sloping forehead, aplasia cutis congenital, cleft lip and low set ears. Very often there are problems with the central nervous system like: holoprosencephaly, apn

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