Distal 10q monosomy: New evidence for a neurobehavioral condition?

Plaisancié, Julie; Bouneau, Laurence; Cancés, Claude; Garnier, Christelle; Benesteau, Jacques; Leonard, Samantha; Bourrouillou, G.; Calvas, Patrick; Vigouroux, Adeline; Julia, Sophie; Bieth, Éric

doi:10.1016/j.ejmg.2013.11.002

Cited by 22 publications

(36 citation statements)

References 24 publications

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“…2A) may be important in 10q26 deletion syndrome, as the majority of the clinical features of the patients assessed in the present study were consistent with the presence of smaller deleted regions that overlap with this CR. Notably, the current study identified that 5 patients described in previous studies [cases 1, 2 and 4 reported by Miller et al (12) and case 1 reported by Plaisancié et al (14) and a case described by Choucair et al (13)] and 13 patients (Fig. 2B; represented by gray vertical bars) in the DECIPHER database did not have deletions that overlapped with this CR (Fig.…”

Section: Discussionsupporting

confidence: 58%

Chromosome 10q26 deletion syndrome: Two new cases and a review of the literature

Lin

Zhou

Fang

et al. 2016

Molecular Medicine Reports

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The current study presents the cases of two unrelated patients with similar clinical features, including craniofacial anomalies, developmental delay/intellectual disability and cardiac malformations, that are consistent with chromosome 10q26 deletion syndrome. High-resolution single-nucleotide polymorphism analysis revealed that 10q26 terminal deletions were present in these two patients. The locations and sizes of the 10q26 deletions in these two patients were compared with the locations and sizes of 10q26 deletions in 30 patients recorded in the DECIPHER database and 18 patients characterized in previous studies through chromosomal microarray analysis. The clinical features and locations of the 10q26 deletions of these patients were reviewed in an attempt to map or refine a critical region (CR) for phenotypes. Additionally, the association between previously suggested CRs and phenotypic variability was discussed. The current study emphasize that a distal 10q26 terminal deletion with a breakpoint at ~130 Mb may contribute to the common clinical features of 10q26 deletion syndrome.

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Section: Discussionsupporting

confidence: 58%

Chromosome 10q26 deletion syndrome: Two new cases and a review of the literature

Lin

Zhou

Fang

et al. 2016

Molecular Medicine Reports

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“…The main clinical features of pure 10p duplication, which were described by Granata et al [2000], are intellectual disability, growth retardation, skull abnormalities (dolichocephaly, microcephaly, wide sutures, high and prominent forehead, microretrognathia, cleft palate), facial dysmorphism (upswept frontal hair pattern, palpebral fissure abnormalities, hypertelorism, nose/lip/ear abnormalities), and finger abnormalities. The clinical features of distal 10q deletion consist of prenatal and postnatal growth retardation, varying degrees of intellectual disability, behavioral disorders, microcephaly, characteristic facial appearance (broad nasal bridge with a beaked or prominent nose, strabismus, hypertelorism, low-set malformed ears), and genital and digital anomalies [Wulfsberg et al, 1989;Chang et al, 2013;Plaisancie et al, 2014]. The breakpoints and the resulting chromosomal alterations in our patient 1 are very close to those detected in 2 patients described by Roberts et al [1989].…”

Section: Discussionsupporting

confidence: 69%

Relatives with Opposite Chromosome Constitutions, rec(10)dup(10p)inv(10)(p15.1q26.12) and rec(10)dup(10q)inv(10)(p15.1q26.12), due to a Familial Pericentric Inversion

Čiuladaitė

Preikšaitienė

Utkus

et al. 2014

Cytogenet Genome Res

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Large pericentric inversions in chromosome 10 are rare chromosomal aberrations with only few cases of familial inheritance. Such chromosomal rearrangements may lead to production of unbalanced gametes. As a result of a recombination event in the inversion loop, 2 recombinants with duplicated and deficient chromosome segments, including the regions distal to the inversion, may be produced. We report on 2 relatives in a family with opposite terminal chromosomal rearrangements of chromosome 10, i.e. rec(10)dup(10p)inv(10) and rec(10)dup(10q)inv(10), due to familial pericentric inversion inv(10)(p15.1q26.12). Based on array-CGH results, we characterized the exact genomic regions involved and compared the clinical features of both patients with previous reports on similar pericentric inversions and regional differences within 10p and 10q. The fact that both products of recombination are viable indicates a potentially high recurrence risk of unbalanced offspring. This report of unbalanced rearrangements in chromosome 10 in 2 generations confirms the importance of screening for terminal imbalances in patients with idiopathic intellectual disability by molecular cytogenetic techniques such as FISH, MLPA or microarrays. It also underlines the necessity for FISH to define structural characteristics of such cryptic intrachromosomal rearrangements and the underlying cytogenetic mechanisms.

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“…She presented some difficulties concerning complex memorization and manipulation of numerous verbal and visuospatial informations (Table I). Interestingly, her deletion included the minimal critical region described previously by Yatsenko et al [2009] and the CALY gene [Laurin et al, 2005;Plaisancie et al, 2014]. Among the 48 deleted genes, only five genes have an altered expression profile.…”

Section: Discussionmentioning

confidence: 95%

Molecular and clinical analyses with neuropsychological assessment of a case of del(10)(q26.2qter) without intellectual disability: Genomic and transcriptomic combined approach and review of the literature

Laudier

Epiais

Pâris

et al. 2016

American J of Med Genetics Pt A

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Terminal deletion of the long arm of the chromosome 10 is a rare but well known abnormality, with a large phenotypic variability. Very few data are available about subtelomeric deletion 10q26 patients without intellectual disability. Herein, we report the case of a young adult with a classical 10q26.2qter deletion. She exhibited mainly short stature at birth and in childhood/adulthood without intellectual disability or behavioral problems. After clinical and neuropsychological assessments, we performed genomic array and transcriptomic analysis and compared our results to the data available in the literature. The patient presents a 6.525 Mb heterozygous 10q26.2qter deletion, encompassed 48 genes. Among those genes, DOCK1, C10orf90, and CALY previously described as potential candidate genes for intellectual disability, were partially or completed deleted. Interestingly, they were not deregulated as demonstrated by transcriptomic analysis. This allowed us to suggest that the mechanism involved in the deletion 10qter phenotype is much more complex that only the haploinsufficiency of DOCK1 or other genes encompassed in the deletion. Genomic and transcriptomic combined approach has to be considered to understand this pathogenesis. © 2016 Wiley Periodicals, Inc.

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Distal 10q monosomy: New evidence for a neurobehavioral condition?

Cited by 22 publications

References 24 publications

Chromosome 10q26 deletion syndrome: Two new cases and a review of the literature

Chromosome 10q26 deletion syndrome: Two new cases and a review of the literature

Relatives with Opposite Chromosome Constitutions, rec(10)dup(10p)inv(10)(p15.1q26.12) and rec(10)dup(10q)inv(10)(p15.1q26.12), due to a Familial Pericentric Inversion

Molecular and clinical analyses with neuropsychological assessment of a case of del(10)(q26.2qter) without intellectual disability: Genomic and transcriptomic combined approach and review of the literature

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