HUM-MOLGEN DIAGnostics/Clinical Research

16 September 1998
46XY der(2) Add(2)(p21) 

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.

 Dr Rowani Mohd Rawi
School of Medical Sciences
Universiti Sains Malaysia
Kubang Kerian 16150
Kelantan, MALAYSIA
Phone: 609 7651711 ext. 2213 / 2195 / 2141
Pager: 419
Fax: 609 7653370
email: / /