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Genetics

Terms in this set (19)

Trisomy 21 (Down Syndrome)
-mental retardation
-hypotonia at birth
-flattened occipit
-depressed nasal bridge
-white specking of iris
-protrusion of tongue
-arched palate
-low set ears
-broad short fingers
-congenital heart disease
Down syndrome congenital anomalies
-septal defects
-hirschprung disease
-congenital hypothyroidism
-floppy baby
-atlantoaxial instability
-increased risk for leukemia
-easily constipated
-hearing or vision issues
Trisomy 18 (Edwards Syndrome)
-mental retardation
-severe hypotonia
-prominent occiput
-low set ears
-drooping eyelids
-thir and fourth fingers overlapped by second and fifth fingers
-webbing of fingers (syntactically)
-congenital heart disease, renal disease, single umbilical artery, rocker bottom feet,
cryptorchidism
Trisomy 13 (Patau Syndrome)
-mental retardation
-severe hypotonia
-seizures
-microcephaly
-malformed ears
-cleft lip and palate
-extra digits (polydactly)
-
Phenylketonuria Disease (PKU)
-Caused by absence of enzyme to metabolize phenylalanine (an amino acid in proteins)
-blood test done before hospital discharge and at 2 weeks of age
PKU symptoms
-failure to thrive (not growing fast)
-vomiting
-hyperactivity
-erratic behavior
PKU diet
-Phenyl free baby formula
-can also do a breast milk and formula combo
-low protein breads and pasta
-lots of fruits and veggies
Galactosemia
-hepatic enzyme deficiency
-S/S: poor suck, failure to thrive, hypoglycemia, enlarged liver, jaundice, acites, sepsis, coma, cataracts
Galactosemia Interventions
-teach how to eliminate all lactose
-cannot breastfeed
-change to soy formula
-supplemental formula
-even antibiotics can have lactose
-may need calcium supplement
Cri du chat syndrome (cat cry) Symptoms
-difficulty swallowing and sucking
-low birth weight
-poor growth
-speech and motor delays
-hyperactivity, aggression, tantrums, repetitive movements
-unusual facial features
-high pitched cry
Cri du chat syndrome (cat cry) Treatment
-supportive care and development therapy
-behavior modification
Turner syndrome
Happens in women and is that partial absence of the x chromosome
Turner syndrome syndrome
-short stature
-dont undergo puberty
-brown sots
-constriction of aorta
Klinefelter Syndrome (XXY)
-Taller than average height
-reduced facial hair
-breast development
-osteoporosis
-feminine fat distribution
-small testes
Klinefelter Syndrome (XXY) Treatment
-androgen therapy
(testosterone therapy starting at age 12)
-speech therapy
-behavioral therapy
Fragile X syndrome (changes to FMR1 gene) symptoms
-elongated face
-protruding ears
-protruding jaw
-larger testes
-increased ear infection
-hyperactive
-hand flapping
Fragile X syndrome (changes to FMR1 gene) Treatment
-early intervention education
-behavioral intervention
-meds to treat behavioral issues
-meds for illness
Mulitfactorial inheritance
interaction of genes and the environment in some cases the inherited faulty gene will increase risk but unless other factors are present the condition may never develop
Multifactoral inheritance examples
-cleft palate
-dislocated hips
-pyloric stenosis
-club feet
-diabetes
-hypertension
-some mental disorders
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