Clinical and neuroradiological features of the 9p deletion syndrome

Spazzapan, Peter; Arnaud, Éric; Baujat, Geneviève; Nizon, Mathilde; Malan, Valérie; Brunelle, Françis; Rocco, Federico Di

doi:10.1007/s00381-015-2957-2

Cited by 19 publications

(17 citation statements)

References 24 publications

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“…Some studies report patients with a 9p deletion presenting with facial asymmetry, hypertelorism, short palpebral fissure, strabismus, asymmetric and dysmorphic ears, wide nasal bridge, long nasal filter, high palate, malocclusion, and psychomotor retardation [Freitas et al, 2011;Recalcati et al, 2012;Spazzapan et al, 2016]. Whereas patients with a 6p duplication are reported having language disorders, motor delay, and intellectual deficit [Vermeesch et al, 2004].…”

Section: Discussionmentioning

confidence: 99%

Diagnostic Approach to Microdeletion Syndromes Based on 22q11.2 Investigation: Challenges in Four Cases

et al. 2017

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In the last few decades, different methods for the detection of genomic imbalances, such as the microdeletion syndromes, were developed. The 22q11.2 deletion syndrome (22q11.2DS) is the most common microdeletion syndrome and presents wide clinical heterogeneity. The aim of this study was to describe 4 unusual cases of genomic imbalances found in individuals with suspected microdeletion syndromes. Different methods were necessary to complete the diagnosis and to obtain information for genetic counseling. The study was retrospective and descriptive. From August 2014 to December 2015, 39 individuals were assessed using FISH and/or MLPA; in 15 cases, chromosomal microarray (CMA) analysis was carried out. Of 39 registered individuals, we found deletions in the 22q11.2 region in 10 individuals (8 individuals with 22q11.2DS and 2 individuals presenting with atypical deletions in the 22q11.2 region: 1 distal deletion and 1 central deletion). In one case with a typical 22q11.2 deletion, a familial balanced translocation was detected. In another case without a 22q11.2 deletion, a 6p duplication concomitant with a 9p deletion was detected by CMA. Clinical data are reported and diagnostic investigations are discussed. Essential aspects for the understanding of different diagnostic techniques of genomic imbalances are considered, and the 4 cases described underline the complexity and the difficulties involved in the diagnostic process. The approach is informative for clinical practice and may be applied in other contexts of genomic imbalance investigation in microdeletion syndromes.

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Section: Discussionmentioning

confidence: 99%

Diagnostic Approach to Microdeletion Syndromes Based on 22q11.2 Investigation: Challenges in Four Cases

et al. 2017

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“…Deletions at this locus are found in over 15% of patients with syndromic trigonocephaly who may also have additional suture involvement, developmental delay and facial dysmorphisms, including midface hypoplasia [Jehee et al, 2005]. A careful revision of the clinical and the neuroradiological findings of the 9p deletion syndrome has been recently proposed to assist with the differential diagnosis of those patients wth trigonocephaly who are more likely to have an underlying chromosomal aberration [Spazzapan et al, 2016]. The FRAS1-related extracellular matrix 1 ( FREM1 ) gene is the most likely candidate in this region.…”

Section: Genetic Etiopathogenesis Of Craniosynostosismentioning

confidence: 99%

Genetic advances in craniosynostosis

Lattanzi

Barba

Pietro

et al. 2017

American J of Med Genetics Pt A

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Craniosynostosis, the premature ossification of one or more skull sutures, is a clinically and genetically heterogeneous congenital anomaly affecting approximately 1 in 2,500 live births. In most cases, it occurs as an isolated congenital anomaly, i.e. nonsyndromic craniosynostosis (NCS), the genetic and environmental causes of which remain largely unknown. Recent data suggest that at least some of the midline NCS cases may be explained by two loci inheritance. In approximately 25–30% of patients craniosynostosis presents as a feature of a genetic syndrome due to chromosomal defects or mutations in genes within interconnected signaling pathways. The aim of this review is to provide a detailed and comprehensive update on the genetic and environmental factors associated with NCS, integrating the scientific findings achieved during the last decade. Focus on the neurodevelopmental, imaging and treatment aspects of NCS is also provided.

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“…The 9p deletion syndrome was first described in 1973. It is characterized by multiorgan syndrome, which includes dysmorphic facial features (e.g., trigonocephaly, midface hypoplasia, and long philtrum), hyperlaxity with frequent abdominal hernia, abnormalities of the extremities, and variable degrees of cognitive delay [ 5 ]. The deletion breakpoint—heterogeneous and variable in size—occurs from 9p22 to 9p24.…”

Section: Discussionmentioning

confidence: 99%

Patient With Delayed Development Resulting From De Novo Duplication of 7q36.1-q36.3 and Deletion of 9p24.3

Choi

Kim

et al. 2017

Ann Rehabil Med

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Patients with a duplication from 7q36 to the terminus or a deletion of 9p24 have been reported, whereas those harboring both mutations have not. Here, we report a patient with simultaneous de novo 7q36.1-q36.3 duplication and 9p24.3 deletion. A 6-year-old boy presented with speech developmental delay, microcephaly, and dysmorphic features, including a long face and small nose. Chromosome and array comparative genomic hybridization analyses revealed 46,XY,dup(7)(q36.1-q36.3) and del(9)(p24.3). The sizes of the duplication and deletion were 9.9 Mb and 1.9 Mb, respectively. The duplication of chromosome 7 contained 68 known genes, of which 3 are related with entries in the Developmental Disorders Genotype-to-Phenotype (DDG2P) database. The deletion of chromosome 9 contained 6 known genes, of which 2 are in the DDG2P database. We investigated the genotype and phenotype in this patient, and reviewed the relevant literatures for possible clinical presentation in these variations.

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Clinical and neuroradiological features of the 9p deletion syndrome

Abstract: Some recurrent neuroradiological alterations can be found in 9p deletion syndrome. The presence of these signs on MRI of a trigonocephalic patient should raise the suspicion of an underlying chromosomal alteration, such as the 9p deletion syndrome and prompt genetic investigations.

Cited by 19 publications

References 24 publications

Diagnostic Approach to Microdeletion Syndromes Based on 22q11.2 Investigation: Challenges in Four Cases

Diagnostic Approach to Microdeletion Syndromes Based on 22q11.2 Investigation: Challenges in Four Cases

Genetic advances in craniosynostosis

Patient With Delayed Development Resulting From De Novo Duplication of 7q36.1-q36.3 and Deletion of 9p24.3

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