A patient with a duplication of chromosome 3p (p24.1p26.2): A comparison with other partial 3p trisomies

摘要

We report on a 5-year-2-month-old male with developmental abnormalities, dysmorphic features, and hypotonia associated with 46,XY,dup(3)(p24.1p26.2), where the duplication occurred de novo. The patient presented manifestations similar to those described in the only other reported patient with duplication of the same segment (3p25.3p26.2) [Bittel et al., 2006].The male infant was born at 41 weeks of gestation. He was the first child of a healthy, young Caucasian couple. The family history was unremarkable with no similarly affected individuals, consanguinity, birth defects, or miscarriages. The pregnancy history was normal and there was no exposure to teratogens during pregnancy. The infant's birth weight was 3,360 g, length was 50 cm, and head circumference was 36 cm, all within the standard range (10th-90th centiles) for male Spanish neonates.