Pediatric Genetics & Genetic Disorders Review

Comprehensive practice flashcards generated from NURS337 Genetics notes and answer key covering key genetic conditions, clinical manifestations, management, and general genetic concepts.

Which finding is most characteristic in a child assessed for Fragile X syndrome?

Prominent ears and elongated face

Which manifestations are associated with Fragile X syndrome?

Developmental delays, difficulty maintaining eye contact, large head circumference, and attention difficulties

Which nursing intervention is most appropriate for a child with Fragile X syndrome who becomes overwhelmed by noise?

Move to a quiet room

Which assessment finding is most concerning in a child with Fragile X syndrome?

Developmental regression

The nurse anticipates a referral for which service for a child with Fragile X syndrome?

Early intervention therapies

Which physical finding is most characteristic of Down syndrome?

Flat nasal bridge

Which manifestations are associated with Down syndrome?

Hypotonia, protruding tongue, flat nasal bridge, and low-set ears

Which congenital anomaly is most commonly associated with Down syndrome?

VSD (Ventricular Septal Defect)

What should a nurse caring for an infant with Down syndrome prioritize assessing?

Airway and feeding

Which parent statement indicates an understanding of Down syndrome management?

Early therapies can improve developmental outcomes.

Which statement best describes Trisomy 18?

Poor prognosis

What is the primary focus of priority nursing care for Trisomy 18?

Supportive care

Which clinical finding is expected in a patient with Trisomy 18?

Multiple congenital anomalies

What should the nurse state when a parent asks about survival for a child with Trisomy 18?

Prognosis is generally poor

What are the priority management aspects for a child with Trisomy 18?

Family support, symptom management, comfort care, and education

What chromosomal alteration results in Turner syndrome?

Missing part or all of an X chromosome

Which physical finding is expected in a patient with Turner syndrome?

Webbed neck

Which clinical findings are associated with Turner syndrome?

Amenorrhea, wide-spaced nipples, edema of hands and feet, and webbed neck

Which therapy may be prescribed for a child with Turner syndrome?

Growth hormone

The nurse should anticipate providing education regarding which long-term topic for Turner syndrome?

Fertility concerns

What causes most inborn errors of metabolism?

Enzyme deficiencies

Why is newborn screening important for inborn errors of metabolism?

Early detection

What does a positive newborn screen require?

Follow-up testing

Which statements are true regarding inborn errors of metabolism?

They have a genetic origin, are often enzyme defects, may present in the newborn period, and are detected by screening.

Which nursing action is the top priority for inborn errors of metabolism management?

Educate family and coordinate follow-up

Klinefelter syndrome is associated with which karyotype?

XXY

Which assessment finding is expected in a patient with Klinefelter syndrome?

Gynecomastia

Which clinical findings are associated with Klinefelter syndrome?

Tall stature, hypogonadism, decreased facial hair, and gynecomastia

Management of Klinefelter syndrome often includes which pharmacological therapy?

Testosterone therapy

The nurse should discuss which long-term topic with a patient who has Klinefelter syndrome?

Reproductive implications

Advanced maternal age increases the risk for which type of medical condition?

Chromosomal abnormalities

Which clinical finding may suggest a genetic disorder in a pediatric patient?

Developmental delay

What does the genetic term 'homozygous' mean?

Two identical alleles

What does a 'de novo mutation' refer to?

First occurrence in a family member

Which nursing role is most important when caring for patients with genetic conditions?

Advocate and educator