How to Cite this Article: Fabretto A, Rocca MS, Perrone MD, Skabar A, Pecile V, Gasparini P. 2012. De novo 6.9 Mb interstitial deletion on chromosome 4q31.1-q32.1 in a girl with severe speech delay and dysmorphic features. Am J Med Genet Part A 158A:882–887.
De novo 6.9 Mb interstitial deletion on chromosome 4q31.1-q32.1 in a girl with severe speech delay and dysmorphic features†
Article first published online: 9 MAR 2012
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 158A, Issue 4, pages 882–887, April 2012
How to Cite
Fabretto, A., Rocca, M. S., Perrone, M. D., Skabar, A., Pecile, V. and Gasparini, P. (2012), De novo 6.9 Mb interstitial deletion on chromosome 4q31.1-q32.1 in a girl with severe speech delay and dysmorphic features. Am. J. Med. Genet., 158A: 882–887. doi: 10.1002/ajmg.a.35239
- Issue published online: 23 MAR 2012
- Article first published online: 9 MAR 2012
- Manuscript Accepted: 26 DEC 2011
- Manuscript Received: 21 FEB 2011
- speech delay;
Deletion of the terminal part of long arm of chromosome 4 is a condition characterized by facial dysmorphisms, cardiac and limb defects, and developmental delay. Deletions usually involve the terminal part of the chromosome and most frequently are interstitial. Here, we report a de novo interstitial deletion resulting in a microdeletion of 6.9 Mb involving 4q31.3-q32.1 segment, detected by SNPs-Array technique in a 4-year-old female showing severe speech delay, mild facial dysmorphisms, and joint laxity. Phenotype–genotype relationships looking at the genes involved in this part of the chromosome were also carried out and data compared with those previously described. © 2012 Wiley Periodicals, Inc.