Pre‐ and postnatal findings in a patient with a novel rec(8)dup(8q)inv(8)(p23.2q22.3) associated with san luis valley syndrome

Abstract

San Luis Valley syndrome, which is due to a recombinant chromosome 8 (SLV Rec8) found in Hispanic individuals from Southwestern United States, is a well-established syndrome associated with intellectual disabilities and, frequently, severe cardiac anomalies. We report for the first time on a Moroccan girl with a recombinant chromosome 8 prenatally diagnosed as SLV Rec8 by conventional cytogenetic studies. At birth, an oligo array-CGH (105 K) defined the breakpoints and the size of the imbalanced segments, with a deletion of ≈ 2.27 Mb (8p23.2-pter) and a duplication of ≈ 41.93 Mb (8q22.3-qter); thus this recombinant chromosome 8 differed from that previously reported in SLV Rec8 syndrome. The phenotypic characteristics associated with this SLV Rec8 genotype overlap those commonly found in patients with 8q duplication reported in the literature. We review SLV Rec8 and other chromosome 8 aberrations and suggest that the overexpression of cardiogenic genes located at 8q may be the cause of the cardiac defects in this patient.

De Novo San Luis Valley Syndrome-like der(8) Chromosome With a Concomitant dup(8p22) in a Mexican Girl

“…The lack of heart defects in the present patient, whose clinical picture otherwise resembles SLVS [2], is consistent with the fact that her deletion did not extend into the underlying minimum critical interval assigned to a ~3-Mb region (8.85 to 11.79 Mb) in 8p23.1, which contains the GATA-binding protein 4 and other cardiogenic genes [4]. Actually, the size of her 8q duplication and 8p deletion differed from the corresponding imbalances of the SLVS rec(8) chromosome and indeed, from all other comparable recombinants characterized by microarray analyses (Fig.…”

“…This rec(8) has an 8q duplication of 47.90 Mb and an 8p deletion of 11.65 Mb [34]. Excluding two de novo rec(8)dup q chromosomes characterized only by G-bands and included in a recent compilation [5], cytogenomic analyses identified nine comparable de novo der(8)dup q/del p chromosomes with or without a simultaneous 8p gain.…”

Pre‐ and postnatal findings in a patient with a recombinant chromosome rec(8)(qter→q21.11::p23.3→qter) due to a paternal pericentric inversion inv(8)(p23.3q21.11) and review of the literature

“…There are very few reports of Rec8 syndrome with breakpoints defined at the molecular level (Graw et al, 2000), respectively, by microarray analysis. To our knowledge, our case is the third one diagnosed by microarray analysis after the cases of Stevens et al (2010) and Vera-Carbonell et al (2013). In comparison to these two cases as well as to the estimated sizes of the terminal 8p deletion (11.65 Mb) and the terminal 8q duplication (47.90 Mb) in "classic" Rec8 syndrome (San Luis Valley syndrome), our patient showed the smallest terminal 8p deletion (1.4 Mb) and the largest 8q duplication (69.8 Mb) reported so far (Vera-Carbonell et al, 2013).…”

Neuroimaging Features of San Luis Valley Syndrome

“…The largest SLVS study described brain ultrasound, CT, and MRI findings including ventriculomegaly, volume loss, delayed myelination, and corpus callosum dysgenesis [ 3 ]. Vera-Carbonell and colleagues reported isolated mild ventriculomegaly on fetal MRI and postnatal ventricular asymmetry, dilated temporal horn, and colpocephaly in a Moroccan female patient with a recombinant chromosome 8 defect that differed from classical SLVS (8p23.2pter deletion and 8q22.3-qter duplication) [ 6 ]. Brains from patients with San Luis Valley syndrome range from being normal to markedly abnormal at autopsy.…”