Interstitial deletion of the long arm of chromosome 2: a clinically recognizable microdeletion syndrome?

Citation
Sm. Maas et al., Interstitial deletion of the long arm of chromosome 2: a clinically recognizable microdeletion syndrome?, CLIN DYSMOR, 9(1), 2000, pp. 47-53
Citations number
18
Categorie Soggetti
Research/Laboratory Medicine & Medical Tecnology
Journal title
CLINICAL DYSMORPHOLOGY
ISSN journal
09628827 → ACNP
Volume
9
Issue
1
Year of publication
2000
Pages
47 - 53
Database
ISI
SICI code
0962-8827(200001)9:1<47:IDOTLA>2.0.ZU;2-0
Abstract
We report on a boy with an interstitial deletion of the long arm of chromos ome 2 with breakpoints in chromosome bands q23 and q24.3. Main features wer e low-set and malformed ears, digital anomalies and congenital heart defect s, which have also been reported in most of the previously described cases. A comparison of the features of the present patient with those in previous ly reported cases suggests the deletion 2q23q24 to be a clinically recogniz able syndrome. Clin Dysmorphol 9:47-53 (C) 2000 Lippincott Williams & Wilki ns.