Multigeneration family with short stature, developmental delay, and dysmorphic features due to 4q27-q28.1 microdeletion

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• 作者：Scott E. Hickey ; Sawona Biswas ; Devon Lamb Thrush ; Robert E. Pyatt ; Julie M. Gastier-Foster ; Caroline Astbury ; Joan Atkin
• 关键词：Microarray ; 4q Deletion ; Developmental delay ; Short stature syndrome
• 刊名：European Journal of Medical Genetics
• 出版年：2013
• 出版时间：September, 2013
• 年：2013
• 卷：56
• 期：9
• 页码：521-525
• 全文大小：697 K

文摘

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 . Strehle et?al. 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 . The contribution of candidate genes in the region is discussed.