An emerging phenotype of proximal 11q deletions

Melis, Daniela; Genesio, Rita; Cozzolino, Mariarosaria; Giudice, Ennio Del; Mormile, Angela; Imperati, Floriana; Ronga, Valentina; Casa, Roberto Della; Nitsch, Lucio; Andria, Generoso

doi:10.1016/j.ejmg.2010.07.010

Cited by 9 publications

(8 citation statements)

References 15 publications

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“…Peining Li reported a deletion of chromosome 11q14.1 → q23.2 involving the FZD4 gene in a patient with growth retardation, facial anomalies, exudative vitreoretinopathy (EVR), cleft palate, and minor digital anomalies [ 16 ]. Daniela Melis reported a deletion of chromosome 11q13.5 → q14.2 in a 5-year-old boy with low frontal hairline, flat profile, round face, full cheeks, periorbital fullness, hypertelorism, broad nasal bridge, down-turned corners of the mouth and developmental delay [ 17 ]. Rebecca L. Sparkes reported a maternally inherited 11q14.3 → q22.3 deletion of a male fetus, the ultrasound scan revealed choroid plexus cysts, echogenic intracardiac foci, mild polyhydramnios, a relatively enlarged right atrium with abnormal cardiac axis, small cerebellum and left talipes equinovarus.…”

Section: Discussionmentioning

confidence: 99%

Prenatal diagnosis of a de novo interstitial deletion of 11q (11q22.3 → q23.3) associated with abnormal ultrasound findings by array comparative genomic hybridization

et al. 2014

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BackgroundConventional G-band karyotyping offers low-resolution detection of chromosome abnormalities and cannot provide information about the involved genomic content. On the other hand, array comparative genomic hybridization can offer a rapid and comprehensive detection of genomewide gains and losses with higher resolution, thus providing the genetic basis for prenatal diagnosis of fetal abnormalities.Case presentationA 35-year-old primigravid underwent cordocentesis at 28 weeks gestation due to the presence of polyhydramnios, intrauterine growth retardation, persistent right umbilical vein and mild stenosis of aortic arch at the ultrasound scan. Conventional G-band chromosome analysis revealed an apparently normal karyotype whereas the array CGH detected a de novo 8.97 Mb deletion at chromosome 11q22.3 → q23.3 and offered a precise characterization of the genetic defect.ConclusionsThe array CGH detected a de novo interstitial 11q deletion with its precise location and size which could be missed or confused by G-band chromosome analysis. The breakpoint was close to the folate sensitive rare fragile site FRA11B and the aphidicolin inducible common fragile site FRA11G, the co-localization fragile site could have caused instability and constitutional chromosomal breakage. This case study indicates that array CGH is a useful technique for detecting small unbalanced chromosomal abnormalities and should be an integral part of prenatal diagnosis for fetal malformations.

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Section: Discussionmentioning

confidence: 99%

Prenatal diagnosis of a de novo interstitial deletion of 11q (11q22.3 → q23.3) associated with abnormal ultrasound findings by array comparative genomic hybridization

et al. 2014

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“…Terminal deletions, also known as Jacobsen syndrome, are frequently described (Melis et al, 2010). Clinical phenotypes of this syndrome are severely debilitating, and frequently result in deaths (Sachdeva et al, 2010).…”

Section: Discussionmentioning

confidence: 99%

“…Cytogenetic of chromosome 11q deletion are widely reported in previous studies (Melis et al, 2010). The 11q terminal deletion disorder or Jacobsen syndrome (JBS) is a rare genetic disorder associated with numerous dysmorphic features, and occurs in 1/100,000 live births with a female predominance of 2:1 (Sheth et al, 2014).…”

Section: Introductionmentioning

confidence: 99%

“…In some cases, high-resolution mapping of the abnormality cannot be achieved due to limitations of conventional chromosome analysis (Melis et al, 2010). In addition, many different abnormalities have been reported in patients with varying interstitial breakpoints on 11q (Pivnick et al, 1996;Ikegawa et al, 1998;Meyer et al, 2000;Goumy et al, 2008).…”

Section: Introductionmentioning

confidence: 99%

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De novo interstitial deletion in the long arm of chromosome 11: a case report

Zhang

Shao³

et al. 2016

Genet. Mol. Res.

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ABSTRACT. The 11q terminal deletion disorder is a rare genetic disorder associated with numerous clinical features. A few case reports have been made about de novo interstitial deletion of chromosome 11q. However, due to the heterogeneity in size and position of the deletions, a clear genotype-phenotype correlation is not easily made. Here we report a case interstitial 20.5-Mb deletion at chromosome 11q13.4q21, as confirmed by array comparative genomic hybridization. Dysmorphic features such as coarse facial features, congenital laryngomalacia, oblique inguinal hernia, higharched palate, and camptodactyly were observed in the subject. The present case broadens the spectrum of clinical findings observed in individuals with 11q interstitial deletion.

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“…Medial 11q contains 2 major pairs of proximal (11q14.1 and q14.3) and distal G-dark bands (11q22.1 and q22.3) that could not be reliably distinguished using G-banding in the past [Li et al, 2006]. Fluorescence in situ hybridisation (FISH) [Horelli-Kuitunen et al, 1999;Li et al, 2002], comparative genomic hybridization (CGH) [Goumy et al, 2008], and array CGH (aCGH) [Li et al, 2006;Sparkes et al, 2009;Kariminejad et al, 2010;Melis et al, 2010;Wincent et al, 2010;Nacinovich et al, 2014] have overcome this problem, and an emerging phenotype of mild to moderate developmental delay, ptosis, and dysmorphism has been described for interstitial deletions involving the proximal 11q14.1q14.3 block of medial 11q [Joyce et al, 1996;Melis et al, 2010;Wincent et al, 2010]. However, the heterogeneity of overlapping deletions and the variability of the associated phenotypes have prevented the delineation of a corresponding phenotype for interstitial deletions of the distal 11q22.1q22.3 block of medial 11q [Nacinovich et al, 2014;Tucker et al, 2016].…”

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confidence: 99%

Directly Transmitted 12.3-Mb Deletion with a Consistent Phenotype in the Variable 11q21q22.3 Region

Kirk

Kharbanda

Bateman

et al. 2020

Cytogenet Genome Res

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Women's NHS Foundation Trust, Liverpool , UK same directly transmitted 12.3-Mb interstitial deletion of 11q21q22.3 (GRCh37: 93,551,765-105,817,723) both had initial feeding difficulties and failure to thrive, speech delay, learning difficulties, and mild dysmorphism. Among 17 patients with overlapping deletions, developmental or speech delay, dysmorphism, hypotonia, intellectual disability or learning difficulties, short stature, and coloboma were each found in 2 or more. These results may provide the basis for a Abstract A phenotype is emerging for the proximal pair of G-dark bands in 11q (11q14.1 and q14.3) but not yet for the distal pair (11q22.1 and q22.3). A mother and daughter with the

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An emerging phenotype of proximal 11q deletions

Cited by 9 publications

References 15 publications

Prenatal diagnosis of a de novo interstitial deletion of 11q (11q22.3 → q23.3) associated with abnormal ultrasound findings by array comparative genomic hybridization

Prenatal diagnosis of a de novo interstitial deletion of 11q (11q22.3 → q23.3) associated with abnormal ultrasound findings by array comparative genomic hybridization

De novo interstitial deletion in the long arm of chromosome 11: a case report

Directly Transmitted 12.3-Mb Deletion with a Consistent Phenotype in the Variable 11q21q22.3 Region

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