Chromosome 4q28.3q32.3 duplication in a patient with lymphatic malformations, craniosynostosis, and dysmorphic features.

The proband, now a 4-year-old female of mixed Caucasian and Japanese ancestry, was born at 29 weeks gestation via spontaneous vaginal delivery following a pregnancy complicated by fetal ascites, echogenic bowel, polyhydramnios, and incompetent cervix. The mother had no other pregnancy complications and had no recognized teratogen exposures throughout the pregnancy. Her length was 37 cm (37 centile), weight was 1.