A case of de novo partial tetrasomy of distal 6p and review of the literature

Stohler, Ryan; Kucharski, Ellen; Farrow, Emily; Torres-Martinez, Wilfredo; Delk, Paula; Thurston, Virginia C.; Vance, Gail H.

doi:10.1002/ajmg.a.31678

Cited by 12 publications

(13 citation statements)

References 9 publications

(11 reference statements)

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“…A single duplication overlapping this segment has been reported previously (14), but with no association with hearing impairment at 3 years of age. Duplications of this region have also been reported, mainly in association with ocular developmental anomalies and glaucoma (19); however, hearing impairment has not been noticed, except in a patient with a de novo partial tetrasomy of 6p25 (20). At least eight microdeletions within or overlapping this segment have been reported (15) associated with phenotypes much more severe than in our patient; phenotypes associated with deletions are frequently more severe than with duplications.…”

Section: Discussioncontrasting

confidence: 47%

Chromosome imbalances in syndromic hearing loss

et al. 2009

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The cause of hearing impairment has not been elucidated in a large proportion of patients. We screened by 1-Mb array-based comparative genomic hybridization (aCGH) 29 individuals with syndromic hearing impairment whose clinical features were not typical of known disorders. Rare chromosomal copy number changes were detected in eight patients, four de novo imbalances and four inherited from a normal parent. The de novo alterations define candidate chromosome segments likely to harbor dosage-sensitive genes related to hearing impairment, namely 1q23.3-q25.2, 2q22q23, 6p25.3 and 11q13.2-q13.4. The rare imbalances also present in normal parents might be casually associated with hearing impairment, but its role as a predisposition gene remains a possibility. Our results show that syndromic deafness is frequently associated with chromosome microimbalances (14-27%), and the use of aCGH for defining disease etiology is recommended.

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Section: Discussioncontrasting

confidence: 47%

Chromosome imbalances in syndromic hearing loss

et al. 2009

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“…The HLA cluster genes on 6p and IRF4 (6p25.3) could play a crucial role in determining immune-system disorders, including the proliferative disorders Andrieux et al, 2006;Shaffer et al, 2009]. In addition, observing the previously reported phenotypes and karyotypes, in particular the cases of Scott et al [2007] and Stohler et al [2007], it could also be concluded that genes that are responsible for the partial 6p trisomy syndromes are those located between 6p25.1 and p25.2, and they could be: ECI2, NRN1,FARS2,TUBB2A,TUBB2B,SERPINB1,SERPINB6,SERPINB9,NQO2,RIPK1 ,and/or BPHL. It should be considered that all of the aforementioned genes can have analogues in the deleted regions that are associated with 6p trisomies ( table 2 ). Previously reported cases could be reinterpreted in the light of new discoveries in the field of cytogenetics and molecular biology.…”

Section: Discussionmentioning

confidence: 85%

“…Intellectual disability, epilepsy, mental retardation, autism, brain abnormalities, hearing loss, ocular defects, or immunodeficiency with susceptibility to pulmonar infections have also been reported [Smith and Pettersen, 1985;Fryns et al, 1986;Burd et al, 1988;Krassikoff and Sekhon, 1989;Katafuchi et al, 1992;Wauters et al, 1993;Giardino et al, 2002;Bart et al, 2011]. Furthermore, this chromosome anomaly is associated with a reduced life span [Villa et al, 2000;Stohler et al, 2007].…”

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confidence: 99%

Karyotype-Phenotype Correlation in Partial Trisomies of the Short Arm of Chromosome 6: A Family Case Report and Review of the Literature

Castiglione

Guaran

Astolfi

et al. 2013

Cytogenet Genome Res

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The first child (proband) of nonconsanguineous Caucasian parents underwent genetic investigation because she was affected with congenital choanal atresia, heart defects and kidney hyposplasia with mild transient renal insufficiency. The direct DNA sequencing after PCR of the CHD7 gene, which is thought to be responsible for approximately 60-70% of the cases of CHARGE syndrome/association, found no mutations. The cytogenetic analysis (standard GTG banding karyotype) revealed the presence of extrachromosomal material on 10q. The chromosome analysis was completed with array CGH (30 kb resolution), MLPA and FISH, which allowed the identification of three 6p regions (6p.25.3p23 × 3): 2 of these regions are normally located on chromosome 6, and the third region is translocated to the long arm of chromosome 10. The same chromosomal rearrangement was subsequently found in the father, who was affected with congenital ptosis and progressive hearing loss, and in the proband's sister, the second child, who presented at birth with choanal atresia and congenital heart defects. The mutated karyotypes, which were directly inherited, are thought to be responsible for a variable phenotype, including craniofacial dysmorphisms, choanal atresia, congenital ptosis, sensorineural hearing loss, heart defects, developmental delay, and renal dysfunction. Nevertheless, to achieve a complete audiological assessment of the father, he underwent further investigation that revealed an increased level of the coagulation factor XIII (300% increased activity), fluctuating levels of fibrin D-dimer degradation products (from 296 to 1,587 ng/ml) and a homoplasmic mitochondrial DNA mutation: T961G in the MTRNR1 (12S rRNA) gene. He was made a candidate for cochlear implantation. Preoperative high-resolution computed tomography and magnetic resonance imaging of the temporal bone revealed the presence of an Arnold-Chiari malformation type I. To the best of our knowledge, this study is the second report on partial 6p trisomy that involves the 10q terminal region. Furthermore, we report the first case of documented Arnold-Chiari malformation type I and increased factor XIII activity associated with 6p trisomy. We present a comprehensive report of the familial cases and an exhaustive literature review.

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“…20,22 The terminal 6p deletion of this patient includes a single Online Mendelian Inheritance in Man (OMIM) annotated gene, IRF4, which is not known to be dosage sensitive. The proximal duplication of interstitial 6p includes 51 OMIM annotated genes, including FOXC1, deletions and duplications of which have been associated with ocular abnormalities and DandyWalker malformation.…”

Section: Discussionmentioning

confidence: 99%

“…17,18 Genetic etiologies, including chromosomal and subtelomeric duplicated or deleted sequences, can be identified in ∼20% to 40% of cases. 17,19 Previously, both 6p 20 and 12q subtelomeric trisomies 21 were reported among genetic rearrangements associated with developmental delay.…”

mentioning

confidence: 99%

Complex Chromosome Rearrangement of 6p25.3->p23 and 12q24.32->qter in a Child With Moyamoya

Rosenberg¹,

Egan²,

Rodgers³

et al. 2013

Pediatrics

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KEY WORDS moyamoya, 6p trisomy, 12q deletion ABBREVIATIONS ACA-anterior cerebral artery FISH-fluorescence in situ hybridization HLA-human leukocyte antigen ICA-internal carotid artery MCA-middle cerebral artery OMIM-Online Mendelian Inheritance in Man SNP-single nucleotide polymorphism Dr Rosenberg guided conception and oversight of manuscript development and critically reviewed and revised manuscript for intellectual content; Dr Egan collected data, reviewed literature, and drafted the initial manuscript; Dr Rodgers collected and analyzed data; Dr Harter analyzed data and reviewed manuscript for intellectual content; Dr Burnside analyzed data, including statistical analysis, and critically reviewed manuscript for intellectual content; Dr Milla analyzed data; Dr Pappas analyzed data, guided conception and oversight of manuscript development, and critically reviewed manuscript for intellectual content; and all authors approved the final manuscript as submitted. Although pediatric ischemic stroke is an uncommon occurrence, moyamoya is responsible for 6% of cases. [1][2][3] Moyamoya is a cerebrovascular occlusive disorder characterized by bilateral progressive stenosis and occlusion of the distal intracranial internal arteries (ICA) and the proximal anterior and middle cerebral arteries with development of compensatory collateral vessels. The latter appear radiographically as a "puff of smoke" (moyamoya in Japanese). [4][5][6] In juvenile moyamoya, the most common initial presentation is extremity weakness or paralysis secondary to cerebral ischemia. 4,7 Moyamoya was first codified in Japan in 1969. 6 Patients are characterized as having moyamoya syndrome if the vascular findings are associated with an underlying condition, including acquired disorders such as previous cephalic radiation therapy or infection and genetic disorders, such as Down syndrome, neurofibromatosis, sickle cell anemia, and Alagille syndrome. 2,[8][9][10] Moyamoya disease, in contrast, generally refers to idiopathic or isolated, potentially familial, moyamoya.Juvenile moyamoya incidence varies by ethnicity (0.1/100 000 in Caucasian children and 1/100 000 in Japan and Korea) and gender (female: male 2:1) with an overall higher prevalence in families (6%-12%). 10 Genetic influences in moyamoya have been studied in twin, linkage, and identification analyses 11,12 in various ethnic groups, but no consistent finding has emerged. 10,12 This suggests both heterogeneity and epigenetic influences in moyamoya among different ethnic groups, with candidate mutations affecting human leukocyte antigen (HLA)-related genes (6p21), 13 neurofibromatosis-linked genes (17q25), 14 and metalloproteinase inhibitor genes involved in collagen vascular architecture (3p24). 15 Early-onset, or juvenile, and late-onset moyamoya likely have different etiologies, as suggested by HLA-related research in Japan. 16 Within moyamoya-related syndromes, several are also associated with developmental delay. Developmental delay and intellectual disability affects 1% to 3% of US chil...

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A case of de novo partial tetrasomy of distal 6p and review of the literature

Cited by 12 publications

References 9 publications

Chromosome imbalances in syndromic hearing loss

Chromosome imbalances in syndromic hearing loss

Karyotype-Phenotype Correlation in Partial Trisomies of the Short Arm of Chromosome 6: A Family Case Report and Review of the Literature

Complex Chromosome Rearrangement of 6p25.3->p23 and 12q24.32->qter in a Child With Moyamoya

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A case of de novo partial tetrasomy of distal 6p and review of the literature

Cited by 12 publications

References 9 publications

Chromosome imbalances in syndromic hearing loss

Chromosome imbalances in syndromic hearing loss

Karyotype-Phenotype Correlation in Partial Trisomies of the Short Arm of Chromosome 6: A Family Case Report and Review of the Literature

Complex Chromosome Rearrangement of 6p25.3-&gt;p23 and 12q24.32-&gt;qter in a Child With Moyamoya

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Complex Chromosome Rearrangement of 6p25.3->p23 and 12q24.32->qter in a Child With Moyamoya