Abstract
BackgroundInterstitial deletions of chromosome 11 long arm are rarely observed and the associated phenotype ranges from normal to severe, depending on the position and size of the deletion and on the presence of unmasked recessive genes on the normal homologous. To our knowledge 32 cases are reported in literature with three family cases. Phenotype-genotype correlation is not very clear and the most common features are characteristic facial dysmorphisms, palate anomalies and developmental delay. Growth retardation is not typical and other major malformations are reported in some cases.Case PresentationWe described a child with 11q interstitial deletion diagnosed at birth with hypotonia and minor dysmorphisms using standard cytogenetic techniques; array CGH was subsequently performed to define the deletion at a molecular level.ConclusionsThis case gave us the opportunity to attempt a genotype-phenotype correlation reviewing the literature and to describe a rehabilitative program that improved the development perspectives of this child.
Highlights
Interstitial deletions of chromosome 11 long arm are rarely observed and the associated phenotype ranges from normal to severe, depending on the position and size of the deletion and on the presence of unmasked recessive genes on the normal homologous
The definition of the breakpoints of an interstitial 11q deletion by conventional techniques is difficult because the banding pattern could be confusing, but new molecular methods such as array CGH and SNPs allow an optimal definition of the breakpoint regions
We describe a case of de novo interstitial deletion of chromosome 11 long arm identified at birth while investigating mild dysmorphisms and hypotonia
Summary
Interstitial 11q deletions are rare with only 32 patients described in literature to our knowledge [1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21] (Additional file 1: Table S1) they span from bands 11q13 to 11q23, but the majority of them has not been characterized with a molecular approach. The two families reported by Goumy et al [2] and Li et al [4] (Additional file 1: Table S1) with phenotypically normal deletion carriers are very interesting. The authors hypothesized a casual association between chromosomal anomaly and proband phenotype In both reports, FISH with BAC clones was performed in order to partially define deletion breakpoints: Li identified a 3.6 Mb deletion (from rp792 M23 to rp11573 M3) while Goumy defined the lowest deleted size of 8.5 Mb [from rp11-372E19 (91,733 Mb) to rp11-775E2 (100,424 Mb)]. Sparkes et al [7] (Additional file 1: Table S1) described the third familial case: a male fetus tested for ultrasound multiple anomalies (choroid plexus cysts, echogenic intracardiac foci, a suspected structural cardiac malformation, left club foot and small cerebellum) with a maternally inherited 11q14.3q22.3 deletion.
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