Browse by author
Lookup NU author(s): Dr Eugen-Matthias Strehle
We present clinical and developmental data on a girl with a de novo terminal deletion of the long arm of chromosome 4, del(4)(q33). The patient was evaluated at birth and followed up until 5 years of age. She showed facial and digital dysmorphism, a complex congenital heart defect, a large occipital encephalocele, and postnatal growth deficiency. Her neuropsychomotor milestones were delayed, and she developed learning difficulties. Apart from standard Giemsa banding, a molecular genetic analysis was performed using a comparative genomic hybridization (CGH) array. This revealed a terminal deletion at the band 4q32.3, which is directly adjacent to 4q33. The clinical findings in our patient differ from those described previously in patients with del(4)(q33) and del(4)(q32), respectively. In particular, the prominent occipital encephalocele has not been observed before in a terminal 4q deletion. © Mary Ann Liebert, Inc.
Author(s): Quadrelli R, Strehle EM, Vaglio A, Larrandaburu M, Mechoso B, Quadrelli A, Fan Y-S, Huang T
Publication type: Article
Publication status: Published
Journal: Genetic Testing
Year: 2007
Volume: 11
Issue: 1
Pages: 4-10
Date deposited: 23/11/2010
ISSN (print): 1090-6576
ISSN (electronic): 1945-0257
Publisher: Mary Ann Liebert, Inc. Publishers
URL: http://dx.doi.org/10.1089/gte.2006.9995
DOI: 10.1089/gte.2006.9995
PubMed id: 17394389
Altmetrics provided by Altmetric