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Deletions of the long arm of chromosome 4 are rare but have been previously reported to be associated with craniofacial anomalies, digital anomalies, developmental delay, growth failure, and cardiovascular anomalies [1-6]. Strehle et al. [1] previously presented 20 patients with 4q deletions and began to construct a phenotype-genotype map for chromosome 4q. This report follows up on that work by providing clinical and molecular cytogenetic data on a three generation pedigree including seven patients with short stature, dysmorphic features, and developmental delay identified to have a 4q27-q28.1 microdeletion of approximately 5.68 Mb by oligonucleotide chromosomal microarray. This family represents a rare report of an inherited interstitial deletion of the long arm of chromosome 4. To our knowledge, only two cases have been previously reported [7,8]. The contribution of candidate genes in the region is discussed. Copyright © 2013 Elsevier Masson SAS. All rights reserved.

Citation

Scott E Hickey, Sawona Biswas, Devon Lamb Thrush, Robert E Pyatt, Julie M Gastier-Foster, Caroline Astbury, Joan Atkin. Multigeneration family with short stature, developmental delay, and dysmorphic features due to 4q27-q28.1 microdeletion. European journal of medical genetics. 2013 Sep;56(9):521-5


PMID: 23895773

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