How to Cite this Article: Palumbo O, Palumbo P, Palladino T, Stallone R, Miroballo M, Piemontese MR, Zelante L, Carella M. 2012. An emerging phenotype of interstitial 15q25.2 microdeletions: Clinical report and review. Am J Med Genet Part A 158A: 3182–3189.
An emerging phenotype of interstitial 15q25.2 microdeletions: Clinical report and review†
Article first published online: 19 NOV 2012
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 158A, Issue 12, pages 3182–3189, December 2012
How to Cite
Palumbo, O., Palumbo, P., Palladino, T., Stallone, R., Miroballo, M., Piemontese, M. R., Zelante, L. and Carella, M. (2012), An emerging phenotype of interstitial 15q25.2 microdeletions: Clinical report and review. Am. J. Med. Genet., 158A: 3182–3189. doi: 10.1002/ajmg.a.35631
- Issue published online: 22 NOV 2012
- Article first published online: 19 NOV 2012
- Manuscript Accepted: 26 JUL 2012
- Manuscript Received: 10 APR 2012
- Italian Ministry of Health
- new microdeletion syndrome;
- smallest region of overlap
Interstitial deletions of chromosome 15q25.2 are rare. To date, only nine patients with microdeletions within this chromosomal region have been described. Here, we report on a girl with severe speech and psychomotor delay, behavioral problems and mild dysmorphic features with a 1.6 Mb deletion in 15q25.2 region. In order to study the parental origin of the rearrangement, we analyzed selected SNPs in the deleted area in the patient and her parents, showing Mendelian incompatibilities suggesting a de novo deletion on the chromosome of maternal origin. By comparing the clinical and molecular features of our patient with five previously reported cases of an overlapping deletion, we suggest that 15q25.2 deletion is an emerging syndrome characterized by a distinct although variable spectrum of clinical manifestations, including mild dysmorphic features, neurodevelopmental delay, and a recognizable pattern of congenital malformation. Furthermore, our patient is the second one in which a behavioral phenotype characterized by hyperactivity, anxiety, and autistic features was reported, indicating that these features might be part of this new syndromic condition. Breakpoints of the deletion in the patient reported here are useful to better define the smallest region of overlap (SRO) among all the patients. Selected genes that are present in the hemizygous state and which might be important for the phenotype of these patients, are discussed in context of the clinical features. In conclusion, our patient increases the knowledge about the molecular and phenotypic consequences of interstitial 15q25.2 deletions, highlighting that deletions of this region may be responsible for a new microdeletion syndrome. © 2012 Wiley Periodicals, Inc.