Citation
L. Spruijt et al., An adult patient with a distal interstitial 14q deletion: Clinical report and literature review, GEN COUNSEL, 11(4), 2000, pp. 335-340
Citations number
30
Categorie Soggetti
Research/Laboratory Medicine & Medical Tecnology
Journal title
GENETIC COUNSELING
ISSN journal
10158146
→ ACNP
Volume
11
Issue
4
Year of publication
2000
Pages
335 - 340
Database
ISI
SICI code
1015-8146(2000)11:4<335:AAPWAD>2.0.ZU;2-R
Abstract
We report a patient with an interstitial 14q32.1-->q32.3 deletion and revie
w the literature. The adult patient presented with moderate mental retardat
ion, a friendly behavior and a non-specific phenotype. The deletion seemed
to be terminal but with FISH probes appeared to be interstitial. Comparison
with other 14q terminal and interstitial deletion patients reported in lit
erature and those with a ring 14 chromosome is given.