A 47,XX,+der(21)t(8;21)(q24.2;q21.1) karyotype in a patient with mild intellectual disability, cleft lip, hashimoto thyroiditis and hirsutism

摘要

Here, we present a patient with an apparent trisomy 21 (Fig. 1) and a mild phenotype. The patient, a 22-year-old woman, came to our observation because of mild intellectual disability. She is the only child of healthy and unrelated parents; she was born at 32 weeks of gestation after an eventful pregnancy except for a threatened miscarriage during the first trimester of pregnancy; her mother was 21 and her father 25. Family history was unremarkable. Birth weight was 1,970 g (>50th centile corrected age), length 42 cm (50th centile corrected age) and head circumference 29 cm (50th centile corrected age).