Submicroscopic interstitial deletion of chromosome 11q22.3 in a girl with mild mental retardation and facial dysmorphism: Case report

Abstract

BackgroundExcept for terminal deletions that lead to Jacobsen syndrome, interstitial deletions involving the long arm of chromosome 11 are not frequently reported. A clinically distinct phenotype is usually observed in these cases, and no clear genotype-phenotype correlation is proposed.ResultsHere we present a case study of a 5-year-old girl with de novo submicroscopic deletion of chromosome 11q22.3 with mild mental retardation and facial dysmorphism. A standard cytogenetic analysis did not reveal any structural aberrations. In contrary, array-CGH analysis indicated a small deletion of 11q22.3.DiscussionTo our knowledge, this is the smallest 11q22.3 deletion reported in literature, containing nine RefSeq genes. Although none of the deleted genes are obvious candidates for the features observed in our patient, genes CUL5 and SLN could play a key role in the features described.

Partial monosomy of 11q22.2q22.3 including the SDHD gene in individuals with developmental delay

“…This patient is assigned Human Phenotype Ontology (HPO) codes for apraxia and intellectual disability, but these codes are not able to provide a full picture of the phenotype. Recently, Krgovic et al reported a girl with a much smaller but overlapping deletion of 11q22.3 with mild developmental delays and dysmorphic features, but no behavior issues [Krgovic et al, ]. The deletion reported by Syrrou and Fryns is similar to Patient 2 in our study [Syrrou and Fryns, ], and this individual also demonstrated developmental delays, but is reported to be doing well otherwise (personal communication).…”

“…More proximal deletions of 11q are less well described, and older literature without molecular techniques such as FISH and microarray studies to precisely identify the region deleted is complicated by the fact that the G‐banding pattern of 11q13q21 is very similar to 11q21q23 [Hori et al, ; Krgovic et al, ]. For these reasons, there is little consistency in the reported phenotype of individuals with interstitial 11q deletions, aside from varying degrees of developmental delays and intellectual disability [de Lonlay‐Debeney et al, ; Krgovic et al, ].…”

Incidental finding of paternal UPD15 in a child with a deletion of 11q21–q22.3, presenting with developmental delay, coloboma and characteristic dysmorphic features

“…Molecularly defined large interstitial deletions overlapping the 11q21-q22 region have been reported in at least six patients (Horelli-Kuitunen et al, 1999;Syrrou and Fryns, 2001;Li et al, 2006;Goumy et al, 2008;Sparkes et al, 2009;Krgovic et al, 2011). Deletion of this region is associated with a variable phenotype, which may include developmental delay, dysmorphic features and congenital anomalies.…”

Coexistence of neuroblastoma and ganglioneuroma in a girl with a hemizygous deletion of chromosome 11q14.1–23.3

“…The array CGH analysis revealed the hemizygous deletion of 11q14.1–23.3. Her distinctive facial features [Nacinovich et al, ], exudative vitreoretinopathy (EVR) [Li et al, ], decreased volume of brain white matter [Krgovic et al, ], and horseshoe kidney [Mosse et al, ] were compatible with clinical manifestations previously reported in 11q interstitial deletion patients. EVR has been widely attributed to the haploinsufficiency of FZD4 (86,945,675–86,955,398) in 11q14.2 [Kondo et al, ; Li et al, ].…”