What are the main signs and symptoms of trisomy 13?
Babies with trisomy 13 often have heart defects like atrial septal defect (ASD), ventricular septal defect (VSD), patent ductus arteriosus (PDA), coarctation of the aorta, or dextrocardia (heart is located on right side of the body instead of the left). Kidney and brain abnormalities are seen as well. Babies are thought to be deaf (non-hearing) and can have episodes of apnea (where breathing stops), seizures, and feeding difficulties. Babies who survive after birth generally have severe intellectual disability.
There are physical features often seen in babies with trisomy 18 such as extra fingers/toes (polydactyly), small head size (microcephaly), openings in the palate (cleft palate), small jaw, and low set ears. Genital abnormalities like undescended testes in males (cryptorchidism) and underdeveloped ovaries have been seen.