1.
Clin Genet
; 64(2): 166-7, 2003 Aug.
Artigo
em Inglês
| MEDLINE
| ID: mdl-12859415
2.
Int J Mol Med
; 11(5): 575-7, 2003 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-12684692
RESUMO
We report on the fourth known case with an interstitial deletion in 15q21. In the present case the breakpoints have been determined by GTG-banding, microdissection and the recently developed multicolor banding (MCB) technique as 15q21.1-q21.3. Common features in all four cases are mental retardation, growth retardation, a beak-like nose with hypoplastic alae nasi and a thin upper lip. Additional frequent features are small hands and feet, hypotonia, low hair implantation, low set ears, clinodactyly and obesity. The possibility that a critical region for a new microdeletion-syndrome is situated in 15q21 is discussed.