Nursing 209

N209: Reproductive Health Study Guide

Physical characteristics: o Hyptonia o

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Flattening of the bridge of the nose o Eyes that are slanted upward with epicanthal folds at inner corners o Large, protruding tongue o Simian crease in palms o Mean IQ of 50 o ADD in childhood; depression common in both children and adults • Prognosis: o Median age life expectancy is 49, but can live into their 70s o Black population with Down Syndrome has shorter life expectancy that white population (may be a result of access to care) o Women with Down Syndrome have a 50% chance of having a baby with Down Syndrome, but may have SAB o Men are infertile, except those with Mosaic form • Treatment: There is no treatment; overall management depends upon conditions present with syndrome (i.e., thyroid problems, diabetes, and heart disease) Edwards Syndrome • Trisomy 18 • Caused by an extra copy of chromosome 18 • Occurs in 1:5000 births • Serious heart, brain, and organ defects along with severe intellectual disability • Characteristics: Small, abnormally-shaped head, small jaw and mouth, and clenched fist with overlapping fingers • Survival is less than one year; many die before birth or within the first month of life Patau Syndrome • Trisomy 1 • Caused by an extra copy of chromosome 13 • Occurs in 1:16,000 newborns • Heart, brain, and spinal cord defects • Characteristics: Extra fingers or toes, cleft lip with/without cleft palate, and hyptonia • Only 5-10% live past the first year of life Klinefelter Syndrome • Caused by an extra X chromosome in males (XXY)

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