disorders Flashcards
(27 cards)
chromosome 21
down syndrome
autosomal trisomy where an infected person can survive until maturity
down syndrome
symptoms: mental retardation, low muscle tone, short stature, flat nasal bridge, protruding tongue, developmental delays
down syndrome
women older than 35 are more likely to give birth to a child with this syndrome
down syndrome
chromosome 18
edwards
most children will not survive before or shortly after bring born
edwards
all will have some level of learning disability, may have heart, respiratory, kidney, or gastrointestinal conditions, low birth weight, unusual-looking face and head, overlapping fingers and webbed toes
edwards
no cure but managing the symptoms can be challenging
edwards
chromosome 13
patau
intellectual disability and physical abnormalities, extra fingers or toes
patau
die within the first days or weeks of life
patau
brain often does not divide into 2 halves which can affect facial features and cause defects such as cleft lift and palate
patau
trisomy x or 47
triple x
females may be taller than the average
triple x
no unusual physical features, no change in sexual development and fertility
triple x
increased risk of learning disabilities and delayed development or speech and language skills
triple x
absence of one x chromosome
turner
causes short stature, can lead to developmental delays and heart problems
turner
grow more slowly than peers and have delayed puberty and lack of growth spurts
turner
signs during pregnancy, weblick neck, low-set ears, broad chest with widely spaced nippples
turner
affect physical and intellectual development
klinefelter
taller than average men and most are infertile
klinefelter
small testes that produce a reduced amount of testosterone, breast enlargement, decreased muscle mass, decreased bone density, reduced amount of facial and body hair
klinefelter
yy syndrome
jacobs
