16 September 1998
Has anobody had any experience with patient with 46XY der(2) Add(2)(p21).
The patient is actually under the care of a friend of mine.
He is two months old, boy and is the first child of an unconsanguineous
couple. He was delivered at 37 weeks of gestation with birth weight of
only 2.45kg. Clinically the child appears dysmorphic with micropthalmia,
microcephalus, low hair line, low set ears. The nipples are widely spaced
and he has right undescended testes. There is also fixed flexion deformities
of the fingers. He also has a small muscular VSD and ASD secundum.The boy was admitted since birth for a total of 3 weeks for feeding difficulty. He was subsequently discharge well but readmitted 1 week later for bronchopneumonia.