This disorder is found in individuals with an extra copy or a variation of chromosome 22 in some or all cells of their body. Features include slow growth before birth, low birth weight, heart defects, organ malformation, brain and central nervous system abnormalities and craniofacial abnormalities. Infants born with Trisomy 13 usually have severe congenital heart defects and other medical conditions, and survival beyond the first year is rare. Many foetuses don’t survive until full-term and are stillborn or spontaneously abort. Patau Syndrome (Trisomy 13) is due to an extra copy of chromosome 13, which is associated with a high rate of miscarriages. Only 5-10% of affected children live past their first year, and often have severe intellectual disability or congenital heart defects. Many individuals with trisomy 18 die before birth or within their first month. Most individual diagnose with Down syndrome will have some degree of learning difficulty, delayed speech development and a delay in motor development.Īpproximately 50% of babies with Down syndrome are born with a heart defect and are also at risk of developing other medical conditions.Īlthough women of any age can have a child with Down syndrome, the chance of having a child with this condition increases with maternal age.Įdwards Syndrome (Trisomy 18) is due to an extra copy of chromosome 18, which is associated with a high rate of miscarriages. Individuals with Down Syndrome (Trisomy 21) are characterised by typical facial features such as an oval-shaped face and eyes that slant upwards.
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