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Summary - Pediatric Nurse Practitioner -PNP-PC GENETICS
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Summary - Pediatric Nurse Practitioner -PNP-PC GENETICS
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1-31 of 3147XXY
-small penis and testes, scoliosis, aspermia, decreased testosterone level, and height greater
than 6 ft.
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, Klinefelter syndrome associated with what symptoms?
• Most common inherited cause of intellectual disability • Caused by mutation in fragile X
mental retardation 1 gene (FMR1)
• Fragile or break at the X chromosome (Xq27.3)
• Males = Females
• S/S Males: • Mild to severe Mental Retardation & Learning Disabilities • Delayed language
• Long or narrow face • Prominent or cupped ears • Enlarged testicles • Hyperextensible
finger joints, pes planus • Hyperactivity or ADHD
• S/S Females: • Mild cognitive deficits to MR • Delayed language • Shy, social anxiety •
Prominent ears • Long, narrow face or higharched palate • Hyperextensible finger joints, pes
planus • Inattention but < hyperactivity
• Evaluation: • Molecular genetic testing • 1 or more typical features: prominent ears,
hyperextensible finger joints, poor eye contact, in combination with DD or MR
• Management: • Medications for hyperactivity • Medications for aggression or severe mood
lability • Special education support w/therapy services • Genetic counseling
• PC monitoring • Developmental/behavior problems
• OM/sinus • OSA • Obesity • Vision
• Caution: hypertension, MVP
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Fragile X Syndrome
• Primary hypogonadism in phenotypic females
, • Results from partial or complete monosomy of an
X chromosome
• Most common cause is absence of one X chromosome (45 X)
• S/S: • Short stature for family • Short neck w/webbing • Posteriorly rotated ears • Ptosis •
Short 4th & 5th metacarpals • Short legs • Hip dysplasia, scoliosis, &/or kyphosis •
Horseshoe kidney • Cardiac disease (left sided lesion, usually Co-ARC). • Delayed puberty
• Associated problems • Learning Disabilities • Hearing loss • Strabismus
• Evaluation: • Karyotype analysis • Prenatal diagnostic screening (chorionic villus sampling or
amniocentesis)
• Management: • GH • Estrogen therapy • Managing associated congenital anomalies,
comorbidities or complications
• PC monitoring • Specialized growth chart • LD • BP (hypertension) • Annual thyroid screen •
Scoliosis
• Caution: cardiac/renal anomalies • Estrogen supplementation with puberty
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Turner Syndrome
• Hemophilia A •Factor VIII deficiency or absence
• Prolonged bleeding (spontaneous or trauma)
• X-linked recessive
• Hemophilia B • Factor IX deficiency
• Males primarily affected
• S/S: Hemophilia A & B
• +FH • Excessive bruising • Prolonged bleeding (minor lacerations, immunizations,
circumcision) • Hemarthrosis
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