A 3-year-old child has severe intellectual disability, microcephaly, and a high-pitched crying sound. Karyotype shows a partial deletion on chromosome 5p. Which syndrome is most likely?
Show answer and explanation
Correct answer: Cri-du-chat syndrome
Cri-du-chat syndrome is caused by a deletion on chromosome 5p, leading to a characteristic high-pitched cry. Intellectual disability and microcephaly are also typical features. The other conditions involve different chromosomal abnormalities.
Keep practicing
More Chromosomal abnormalities questions
- Which chromosomal abnormality results from a reciprocal translocation between the long arms of chromosomes 14 and 21?
- A patient with short stature, streak ovaries, webbed neck, and coarctation of the aorta likely has which chromosomal finding?
- A teenager with tall stature, small testes, gynecomastia, and reduced facial hair undergoes genetic testing. The likely result is:
- Microarray testing on a child with intellectual disability and elfin facies reveals a deletion on chromosome 7q11.23. Which condition is th…
- A newborn with congenital heart disease and thymic aplasia is diagnosed with 22q11 deletion. Which mechanism caused this abnormality?
- A child with severe hypotonia, obesity, hyperphagia, and small hands/feet likely has which chromosomal mechanism causing the disease?