Deletion 2p15–16.1 syndrome: Case report and review

Abstract

We report on a 9-year-old female patient with facial anomalies and developmental delay, heterozygous for three de novo rearrangements: a paracentric inversion of chromosome 7, an apparently balanced translocation between chromosome 1 and 7, involving the same inverted chromosome 7, detected by standard cytogenetic analysis [46,XX, der(7) inv(7)(q21.1q32.1)t(1;7)(q23q32.1)]; and a 2p16.1 deletion, spanning about 3.5 Mb of genomic DNA, shown by SNP-array analysis [arr 2p16.1 (56,706,666-60,234,485)x1 dn]. Clinical features and cytogenetic imbalance in our patient were similar to those reported in five published cases, suggesting that this genomic region is prone to recombination and its hemizygosity results in a distinct although variable spectrum of clinical manifestations.

Brain malformations in a patient with deletion 2p16.1: A refinement of the phenotype to BCL11A

“…Conversely, three patients with deletions in the same region of 2p15-16.1, but not involving BCL11A, did not reveal abnormalities on their imaging studies (Fig. 2) [Chabchoub et al, 2008;Fannemel and Barøy, 2014;Prontera et al, 2011]. The only other described patient in the literature with a microdeletion similar to this case, i.e.…”

“…Following the initial report in 2007 by Rajcan-Separovic et al [Rajcan-Separovic et al, 2007], there have been 15 patients reported in the literature with overlapping deletions in this region [Chabchoub et al, 2008;Fannemel and Barøy, 2014;Florisson et al, 2013;Félix and Petrin, 2010;Hancarova et al, 2013;Hucthagowder et al, 2012;Liang et al, 2009;Peter et al, 2014;Piccione et al, 2012;Prontera et al, 2011;de Leeuw et al, 2008], in addition to reports from public databases such as DECIPHER and ISCA [Firth et al, 2009;Miller et al, 2010] and other large studies assessing developmental delay and copy number variants [Cooper et al, 2011;Kaminsky et al, 2011]. All of the reported patients had varying degrees of developmental delay, along with shared dysmorphic features and microcephaly, making this a recognizable microdeletion syndrome.…”

Identifying candidate genes for 2p15p16.1 microdeletion syndrome using clinical, genomic, and functional analysis

“…1. It is of interest to note that even without an obvious deletion of BCL11A, fetal hemoglobin expression was increased in a patient with isolated FANCL and VRK2 deletions (11,35), possibly suggesting an effect of the distant deletion on the function of BCL11A. Regulatory SNPs were previously reported in the enhancer sequence that lies in the second intron of BCL11A and were associated with increased expression of fetal hemoglobin as well as with schizophrenia and attention deficit hyperactivity disorder (ADHD) (4).…”

2p15-p16.1 microdeletions encompassing and proximal to BCL11A are associated with elevated HbF in addition to neurologic impairment

“…12,13 The first is a 15-year-old female with a 3.5-Mb deletion downstream of BCL11A ( Figure 1A). 13 The second and third are an 8-year-old female and 7-year-old male with 642-kb and 2.5-Mb deletions, respectively, covering the entire BCL11A gene ( Figure 1A).…”

“…12,13 The first is a 15-year-old female with a 3.5-Mb deletion downstream of BCL11A ( Figure 1A). 13 The second and third are an 8-year-old female and 7-year-old male with 642-kb and 2.5-Mb deletions, respectively, covering the entire BCL11A gene ( Figure 1A). 12 Although their neurological and physical traits have been extensively characterized, their hematopoietic profiles have not been previously assessed.…”