A 16-month-old boy is brought by his parents to the pediatrics PA’s office to establish care. The patient’s family recently immigrated from Eastern Europe, and medical records are not available. The mother notes that the patient has not been growing as quickly as his siblings grew. In the office, the patient’s temperature is 37.5°C (99.5°F), blood pressure is 105/62 mmHg, pulse is 100/min, and respirations are 28/min. Physical exam reveals hyperpigmented spots on the patient’s body and hypoplastic thumbs. The patient’s height, weight, and head circumference are below the 3rd percentile. Laboratory testing reveals the following results: Laboratory value Result Reference Range Hemoglobin 8.1 g/dL 13.5-17.5 g/dL Leukocyte 2,300/mm 3 4,500-11,000/mm 3 Platelet 65,000/mm 3 150,000-400,000/mm 3 Mean Corpuscular Volume 109 mm 3 80-100 mm 3 The patient’s condition is most likely due to a defect involving which of the following processes?

Double-stranded DNA break repair

Synthesis of uridine monophosphate

Double-stranded DNA break repair

Synthesis of deoxythymidine monophosphate

Fanconi anemia

Ciencias fundamentalesBiología celular y molecularBiología molecularTrastornos de la biología molecularTrastornos de replicación y reparación del ADN

Ciencias fundamentalesGenéticaBiología molecularTrastornos de la biología molecularTrastornos de replicación y reparación del ADN

Ciencias fundamentalesPatologíaSangre y sistema linforreticularAnemia, citopenias y anemias por policitemiaAnemia macrocítica megaloblástica

Ciencias fundamentalesPatologíaSangre y sistema linforreticularAnemia, citopenias y anemias por policitemiaAnemias macrocíticas no megaloblásticas

Sistemas de órganosSangre y sistema linforreticularPatologíaAnemia, citopenias y anemias por policitemiaAnemia macrocítica megaloblástica

Sistemas de órganosSangre y sistema linforreticularPatologíaAnemia, citopenias y anemias por policitemiaAnemias macrocíticas no megaloblásticas

Definiciones y Puntos Clave

Fanconi anemia (FA) is an autosomal recessive disorder in which there is decreased production of red blood cells (anemia), white blood cells, and platelets due to bone marrow failure. This can cause problems with the immune system, increase the risk of infection, and can lead to bleeding problems. People with FA may also have stature, upper limb malformations, and an increased incidence of acute myeloid leukemia.

Fanconi anemia

Definiciones y Puntos Clave

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