A report of three patients with an interstitial deletion of chromosome 15q24

Abstract

Partial monosomy of the q2 region of chromosome 15 has been infrequently reported. Moreover, interstitial deletions involving 15q22-q24 have been described in only nine patients to date. The phenotype of these reported individuals is subject to the extent of the deletion but typically includes altered muscle tone and significant developmental delays. In addition, eye abnormalities, such as strabismus, microphthalmia, or colobomas, ear abnormalities including cleft earlobe and preauricular tags, and urogenital defects are common features. Congenital heart defects, diaphragmatic hernia, abnormalities of the central nervous system, and skeletal anomalies have been reported but appear to be less frequent clinical manifestations. In this report, we describe three new patients with interstitial deletions involving 15q24, two with cryptic deletions identified by fluorescence in situ hybridization (FISH) with a probe for the PML gene and one with a cytogenetically visible deletion of 15q22.3-q24. The clinical presentation of these individuals is similar to those previously described and includes global developmental delays, hypotonia, and genital abnormalities in the males. The identification of these three cases demonstrates that the above clinical features are associated with a new cytogenetic deletion syndrome. Furthermore, we suggest that FISH analysis with a probe for the PML gene be performed in patients with these physical findings.

Genomic Analyses of Patients With Unexplained Early-Onset Scoliosis

“…These results, together with clinical findings, are consistent with a diagnosis of de novo chromosome 15q24 microdeletion syndrome [17]. Figure 1d compares the deletion in our patient to other published 15q24 microdeletion cases in the literature and suggests that our findings may define a new minimal deletion.…”

“…The constellation of features in Case 15-1 suggested an underlying syndrome, yet prior genetic studies were normal. Chromosome 15q24 microdeletion syndrome has emerged only recently as a recognizable diagnosis, subsequent to genetic testing with chromosome microarrays [13, 17]. Previous reports describe developmental delay, ear and eye abnormalities, hypotonia, genito-urinary anomalies, craniofacial dysmorphism and minor digital anomalies including proximally implanted thumbs, mild brachydactyly, syndactyly, camptodactyly, and long slender fingers as salient features of the syndrome [23–28].…”

Cib2 Binds Integrin α7Bβ1D and Is Reduced in Laminin α2 Chain-deficient Muscular Dystrophy

“…In humans, the CIB2 gene is localized to the q24 region of chromosome 15 (23). Interestingly, patients with an interstitial deletion of chromosome 15q24 have clinical manifestations, such as hypotonia, marked developmental delays, and abnormalities of the ears (33). Also, a syndrome of severe mental retardation, spasticity, and visual impairment has been linked to chromosome 15q24 (34).…”

An Additional Case of the Recurrent 15q24.1 Microdeletion Syndrome and Review of the Literature

“…Microdeletion of 15q24 was first reported by Cushman et al in three cases detected by FISH (Cushman et al, 2005). To date there are 18 reported cases involving 15q24.1 deletion which are detected by array-based methods (Andrieux et al, 2009;El-Hattab et al, 2009;El-Hattab et al, 2010;Klopocki et al, 2008;Marshall et al, 2008;Masurel-Paulet et al, 2009;McInnes et al, 2010;Sharp et al, 2007;Van Esch et al, 2009).…”