A 3-year-old boy is referred to pediatrics for developmental delay and distinctive facial features. On examination, he has a prominent forehead, deep-set eyes, broad upturned nose, and thick everted lower lip. Notably, his palms and soles show characteristic deep longitudinal furrows. He also has bilateral patella hypoplasia, camptodactyly, and restricted joint mobility. Karyotype analysis reveals 47,XY,+8/46,XY in skin fibroblasts but not in peripheral blood lymphocytes. The structure marked **A** in the diagram represents this condition. Which of the following is the most critical long-term surveillance parameter for this patient?
A. Thyroid function tests and screening for autoimmune thyroiditis
B. Annual ophthalmologic screening for cataracts and retinal detachment
C. Echocardiography every 6 months to monitor for progressive valvular disease
D. Serial complete blood count and bone marrow examination for myelodysplastic syndrome and acute myeloid leukemia
Explanation
Why "Serial complete blood count and bone marrow examination for myelodysplastic syndrome and acute myeloid leukemia" is right
Trisomy 8 mosaicism (Warkany syndrome 2), marked as A in the diagram, carries a markedly increased risk of myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML) — trisomy 8 is one of the most common acquired cytogenetic abnormalities in adult AML and MDS. This hematologic malignancy risk is the most critical long-term complication requiring serial surveillance with CBC and bone marrow examination, as stated in Smith Recognizable Patterns 8e. While cardiac, skeletal, and developmental monitoring are important, the malignancy risk is the most life-threatening and requires systematic surveillance.
Why each distractor is wrong
Echocardiography every 6 months to monitor for progressive valvular disease: While congenital heart defects (VSD, PDA, valvular abnormalities) do occur in trisomy 8 mosaicism, they are not progressive and do not require 6-monthly surveillance. Baseline echocardiography and periodic assessment are appropriate, but this is not the most critical surveillance parameter compared to hematologic malignancy risk.
Annual ophthalmologic screening for cataracts and retinal detachment: Ocular abnormalities are not a characteristic or major feature of trisomy 8 mosaicism. This is not a recognized complication requiring systematic surveillance in this condition.
Thyroid function tests and screening for autoimmune thyroiditis: Thyroid dysfunction and autoimmune thyroiditis are not documented associations with trisomy 8 mosaicism. This represents confusion with other chromosomal or genetic syndromes.
High-YieldNEET PG
Trisomy 8 mosaicism requires serial CBC and bone marrow surveillance because of markedly elevated risk of MDS/AML — the most critical long-term complication.
Smith Recognizable Patterns 8e — Trisomy 8 Mosaicism (Warkany Syndrome 2)
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