Fragile X
Typical characteristics of fragile X syndrome?
What is - long face, large ears, prominent jaw
What is PKU?
Toxic accumulation of phenylalanine, leading to brain damage and intellectual disability if left untreated
This chromosome is affected in Patau syndrome
Trisomy 13
A hallmark feature of Turner syndrome in females is this webbed body structure.
What is a webbed neck?
Flat facial profile
Upward slanting eyes
Single palmar crease
Bonus - Hypotonia (Low muscle tone)
what are hyperactivity, autistic behaviors, anxiety
Clinical findings in phenylketonuria
Musty odor in urine
light hair, skin, and eyes
microcephaly
These 2 key physical findings occur in Trisomy 13
Cleft lip/palate
Polydactyl
Males with Klinefelter syndrome typically have this small organ finding
What are small testes?
Congenital defects in Down Syndrome typically affect this organ
What is the heart?
A child with Fragile X syndrome may show this type of speech pattern
Echolalia
How is phenylketonuria diagnosed?
Blood test shortly after birth
Classic hand finding in Trisomy 18
Clenched fist with overlapping fingers
Both Turner and Klinefelter syndromes can affect puberty, but in different ways. Turner females often require this therapy, while Klinefelter males require this therapy.
Estrogen and growth hormone for Turner
Testosterone for Klinefelter
Developmental and neurological findings in Down syndrome include these key traits.
What are hypotonia, delayed milestones, mild-to-moderate intellectual disability, and speech delays?
True or false, Fragile X syndrome is the most commonly inherited cause of intellectual disability
True
Treatment for phenylketonuria?
Restricted diet, avoiding high protein
Supplemental Tyrosine
Life expectancy for trisomy 13 and 18
13 - weeks to months
18 - no more than 1 year
This cognitive or behavioral feature may be seen in Klinefelter syndrome.
What is learning disabilities, speech/language delays, or social difficulties?
The thyroid problem typically associated with Down Syndrome
Hypothyroidism
Does fragile X syndrome typically affect males or females and why?
Can effect both males and females, but females are less severe because they carry a second X chromosome that is typically normal.
Early detection of PKU with treatment in the first 2 weeks of life can prevent what?
Intellectual disability
Organs typically affected by trisomy 13
What are the heart, brain, and kidney
Short stature is the hallmark of this syndrome.
Turner syndrome
Maternal age over this number increases the risk of having a baby with Down syndrome.
What is 35?