A boy presents with multiple café-au-lait macules, axillary freckling, and a family history of similar findings. Which gene mutation is expected?
A 12-year-old girl presents with short stature, webbed neck, low posterior hairline, and lymphedema of the hands and feet at birth. Her karyotype is 45, X. Which is the most common associated cardiac malformation?
A 15-year-old girl with learning disability, feeding difficulties, and congenital diaphragmatic hernia has a pathogenic variant in KMT2D. Which endocrine or autoimmune problems she might develop?
A full-term newborn girl presents with microcephaly, hypertelorism, and a shrill cry. Physical exam reveals a protruding metopic suture. Chromosomal analysis demonstrates a deletion of the short arm of chromosome 5. What is the most likely diagnosis?
A 2-year-old boy has failure to thrive, feeding difficulties, hypotonia, central obesity, hypogonadism, and small hands and feet. Which diagnostic test is most likely to confirm the diagnosis?
A 4-year-old boy with normal birth history is noted to have mild intellectual disability, tall forehead, low-set ears, wide-spaced eyes, and pulmonary valve stenosis. Which of the following is he most at risk for developing?
An infant girl born to non-consanguineous parents is noted to have severe hypotonia in infancy followed by developmental delay, absent speech, ataxic gait, and a happy, easily-laughing demeanor with hand-flapping movements. Methylation analysis reveals an abnormality involving the 15q11-q13 region. What is the most likely molecular finding?
A newborn with low birthweight, clenched fists, rocker-bottom feet, and micrognathia is noted to have a ventricular septal defect. What chromosomal abnormality is most likely present?
A neonate is born with postaxial polydactyly, obesity, retinitis pigmentosa, and intellectual disability. Which type of disorder is suspected?
A 13-year-old male presents with tall stature, small testes, sparse facial hair, and mild learning disabilities. What is the most likely karyotype?
