Partial trisomy 7q and monosomy 13q in a child with disorder of sex development: Phenotypic and genotypic findings

Shojaei, Azadeh; Behjati, Farkhondeh; Derakhshandeh-Peykar, Pupak; Razzaghy-Azar, Maryam; Otukesh, Hasan; Kariminejad, Ariana; Dowlati, Mohammad-Ali; Rashidi-Nezhad, Ali; Bazzaz, Javad Tavakkoly

doi:10.1016/j.gene.2012.11.013

Cited by 7 publications

(9 citation statements)

References 25 publications

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“…8 Distal duplication of 7q was associated with dysmorphic facies and ID although DBM were rarely described. 9 Here, we report a patient with periventricular white matter changes, cavum septum pellucidum, perisylvian polymicrogyria, and focal occipital pachygyria in whom we identified 6p25.3-p25.2 deletion involving TUBB2A and TUBB2B. The presented data confirms the previously described DBM associations and gave evidences that they are due to TUBB2A and TUBB2B haploinsufficiency.…”

Section: Introductionsupporting

confidence: 87%

Further Insights into Developmental Brain Malformations and Leukoencephalopathy Associated with 6p25.3 Deletion

Eid

Hegazy

et al. 2019

Neuropediatrics

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We report a new patient who presented with dysmorphic features and congenital heart disease. In addition, her brain magnetic resonance imaging revealed leukoencephalopathy, cavum septum pellucidum, perisylvian polymicrogyria, and focal occipital pachygyria. Her regular karyotype showed 46,XX add 6 (p25) due to malsegregation of a maternal balanced translocation 46,XX,t(6;7)(p25;q33) while the array-comparative genomic hybridization identified a 3.307 Mb heterozygous deletion at 6p25.3-p25.2 and 23.95 Mb duplication at 7q33-q36.3. A previous patient with the same developmental brain malformations and leukoencephalopathy with 6p25 deletion including TUBB2A and TUBB2B genes had been reported. Thus, confirming that these specific developmental brain malformations are due to TUBB2A and TUBB2B haploinsufficiency. Our report is the first to present the developmental brain malformations associated with whole gene deletions of the two tubulin genes and provide further insights into the etiology of developmental brain malformations and white matter abnormalities associated with 6p25 deletions.

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Section: Introductionsupporting

confidence: 87%

Further Insights into Developmental Brain Malformations and Leukoencephalopathy Associated with 6p25.3 Deletion

Eid

Hegazy

et al. 2019

Neuropediatrics

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“…Likewise, features not described by Lyle et al . [ 14 ] were also identified such as club foot and cleft palate; nevertheless, these features are described in the phenotypic spectrum 7q duplication [ 11 , 14 ].…”

Section: Discussionmentioning

confidence: 99%

“…Although duplications of the long arm of chromosome 7 are well known, these are rare and their presence usually results in the apparition of multiple congenital abnormalities and cognitive deficits. Clinical features depend on the size of the duplicated segment and the possible presence of concomitant chromosomal deletions, secondary to rearrangements of chromosomal segments [ 10 , 11 ].…”

Section: Introductionmentioning

confidence: 99%

Deletion 21q22.3 and duplication 7q35q36.3 in a Colombian girl: a case report

Ruiz-Botero

Pachajoa

2016

J Med Case Reports

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BackgroundGenetic disorders are a major cause in the etiology of cases with intellectual disability; however, analysis by a conventional technique such as cytogenetic karyotyping only allows the detection of chromosomal alterations in approximately 9.5 % of cases. The inclusion of new technologies such as high resolution microarray analysis has allowed the study of alterations in chromosomal segments that are less than 5 Mb in length; this has led to an increase in the diagnosis of these patients of up to 25 %.Case presentationWe report the first case of an 8-year-old Colombian girl of mixed race ancestry (Mestizo), with clinical features that include: delayed psychomotor and language development, intellectual disability, upward slanting palpebral fissures, divergent strabismus, low-set and rotated ears, tall and broad nasal bridge, flat philtrum, bifid uvula, posterior cleft palate, increased anteroposterior diameter of her chest, congenital heart defect type interventricular communication, scoliosis, and umbilical hernia. Genetic analysis was performed using comparative genomic hybridization array, which evidenced the deletion of a region of approximately 3.608 Mb on chromosome 21q22.3, and a duplication of 12.326 Mb on chromosome 7q35q36.3, these alterations affect approximately 112 and 186 genes, respectively.ConclusionsTo date, this is the first report of an associated terminal deletion of 21q and 7q duplication in a patient with delayed psychomotor development and intellectual disability. We consider that future implementation of exome and RNA sequencing techniques, and analysis of their proteomic expression in a clinical context could lead to better analysis and interpretation of the genotype–phenotype correlation in cases similar to that described.

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“…The results obtained from patient 1 in the present study, together with those obtained from patients with genitourinary/anorectal anomalies in 13q deletion syndrome from previous studies (3,4,6–8,11,14–18), have identified two critical regions, 13q33.3-qter and 13q22.1–31.3. In recent years, the non-morbid online Mendelian Inheritance in Man (OMIM) gene, ephrin B2 ( EFNB2 ) located in 13q33.3, has been recognized as a strong candidate gene for hypospadias or anorectal anomalies in 13q deletion syndrome in a number of studies (4,7–9,18). Animal experiments have demonstrated that a partial loss-of-function EFNB2 mutation in heterozygous male mice induces severe hypospadias and incomplete cloacal septation, and female mice exhibit similar defects in their external genitalia (29).…”

Section: Discussionmentioning

confidence: 99%

Chromosome 13q deletion syndrome involving 13q31-qter: A case report

Wang

Niu

et al. 2017

Molecular Medicine Reports

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Partial deletions on the long arm of chromosome 13 lead to a number of different phenotypes depending on the size and position of the deleted region. The present study investigated 2 patients with 13q terminal (13qter) deletion syndrome, which manifested as anal atresia with rectoperineal fistula, complex type congenital heart disease, esophageal hiatus hernia with gastroesophageal reflux, facial anomalies and developmental and mental retardation. Array comparative genomic hybridization identified 2 regions of deletion on chromosome 13q31-qter; 20.38 Mb in 13q31.3-qter and 12.99 Mb in 13q33.1-qter in patients 1 and 2, respectively. Comparisons between the results observed in the present study and those obtained from patients in previous studies indicate that the gene encoding ephrin B2 (EFNB2) located in the 13q33.3-q34 region, and the gene coding for endothelin receptor type B, in the 13q22.1–31.3 region, may be suitable candidate genes for the observed urogenital/anorectal anomalies. In addition, the microRNA-17-92a-1 cluster host gene and the glypican 6 gene in the 13q31.3 region, as well as EFNB2 and the collagen type IV a1 chain (COL4A1) and COL4A2 genes in the 13q33.1-q34 region may together contribute to cardiovascular disease development. It is therefore possible that these genes may be involved in the pathogenesis of complex type congenital heart disease in patients with 13q deletion syndrome.

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Partial trisomy 7q and monosomy 13q in a child with disorder of sex development: Phenotypic and genotypic findings

Cited by 7 publications

References 25 publications

Further Insights into Developmental Brain Malformations and Leukoencephalopathy Associated with 6p25.3 Deletion

Further Insights into Developmental Brain Malformations and Leukoencephalopathy Associated with 6p25.3 Deletion

Deletion 21q22.3 and duplication 7q35q36.3 in a Colombian girl: a case report

Chromosome 13q deletion syndrome involving 13q31-qter: A case report

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