A new familial insertion, ins(18;9)(q12.2;q33.1q31.1) with a 9q31.1–9q33.1 deletion in a girl with a cleft lip and palate

Chien, Shih‐Chang; Li, Yueh-Chun; Li, Ling-Hui; Wu, Jer‐Yuarn; Hsu, Pei-Ching; Shi, Sue-Lin; Tsai, Fuu‐Jen; Lin, Chieh‐Hsin

doi:10.1002/ajmg.a.33452

Cited by 11 publications

(17 citation statements)

References 16 publications

(18 reference statements)

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“…Most of these were detected using conventional chromosome banding analysis, and to date, no clear syndrome has been identified). Seven cases have currently been reported using CMA techniques with precise breakpoints that overlap the 9q31.2q32 region . These are represented graphically in Figure and aligned against the deletion seen in our cohort, with a summary of the clinical reports available in Table .…”

Section: Discussionmentioning

confidence: 66%

“…Seven cases have currently been reported using CMA techniques with precise breakpoints that overlap the 9q31.2q32 region. [9][10][11][12][13] These are represented graphically in Figure 3 and aligned against the deletion seen in our cohort, with a summary of the clinical reports available in Table 2. A critical overlapping area extends from chr9: 109711873-113407621 (hg18).…”

Section: Methodsmentioning

confidence: 88%

“…Twin 2 had similar dysmorphic facial features, learning difficulties, short stature, cervicothoracic gibbus, and sensorineural hearing loss. Chien et al described a patient with a 10.3 Mb deletion involving chromosome region 9q31.1q33.1 (chr9: 106859697‐117190101, hg18) due to a familial insertion ins(18;9)(q12.2;q33.1q31.1, hg18). Clinical findings included cleft lip and palate, delayed motor milestones, intellectual impairment, poor growth, dysmorphic facial features, and sensorineural hearing loss.…”

Section: Discussionmentioning

confidence: 99%

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A novel familial 9q31.2q32 microdeletion: Muscle cramping, somnolence, fatigue, sensorineural hearing loss, pubertal delay, and short stature

Ramineni

Burgess

Cruickshanks

et al. 2019

Clinical Case Reports

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Key Clinical Message We report a novel 9q31.2q32 (chr9: 109195179‐113974353, hg 18) microdeletion characterized by fatigue, muscle cramps, short stature, delayed puberty, sensorineural hearing loss, and mild developmental delay. Overlapping microdeletions reported in this region also demonstrate facial dysmorphism, skeletal anomalies, cleft palate, and cardiac valvular abnormalities. In comparing these cases, we suggest critical region of chr9: 109711873‐113407621 (hg 18).

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Section: Discussionmentioning

confidence: 66%

Section: Methodsmentioning

confidence: 88%

Section: Discussionmentioning

confidence: 99%

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A novel familial 9q31.2q32 microdeletion: Muscle cramping, somnolence, fatigue, sensorineural hearing loss, pubertal delay, and short stature

Ramineni

Burgess

Cruickshanks

et al. 2019

Clinical Case Reports

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“…A comparison of our patient with the 11 previously reported cases with partially overlapping deletions is provided in Table 2 and their deletion regions are compared in Fig. 5 (case 1 and case 4 came from DECIPHER, http://decipher.sanger.ac.uk/) [10,11,12,13,14,15,16]. …”

Section: Discussionmentioning

confidence: 99%

Patients Carrying 9q31.1-q32 Deletion Share Common Features with Cornelia de Lange Syndrome

Cao

Tian

Fang

et al. 2015

Cell Physiol Biochem

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Background: Cornelia de Lange Syndrome (CdLS) is a rare but severe clinically heterogeneous developmental disorder characterized by facial dysmorphia, growth and cognitive retardation, and abnormalities of limb development. Objectives: To determine the pathogenesis of a patient with CdLS. Methods: We studied a patient with CdLS by whole exome sequencing, karyotyping and Agilent CGH Array. The results were confirmed by quantitative real-time PCR analysis of the patient and her parents. Further comparison of our patient and cases with partially overlapping deletions retrieved from the literature and databases was undertaken. Results: Whole exome sequencing had excluded the mutation of cohesion genes such as NIPBL,SMC1A and SMC3. The result of karyotyping showed a deletion of chromosome 9q31.1-q32 and the result of Agilent CGH Array further displayed a 12.01-Mb region of deletion at chromosome bands 9q31.1-q32. Reported cases with the deletion of 9q31.1-q32 share similar features with our CdLS patient. One of the genes in the deleted region, SMC2, belongs to the Structural Maintenance of Chromosomes (SMC) family and regulates gene expression and DNA repair. Conclusions: Patients carrying the deletion of 9q31.1-q32 showed similar phenotypes with CdLS.

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“…Non-recurrent rearrangements can be explained by different models [Gu et al, 2008] and investigation of breakpoints can be useful for a better understanding of the genome structure and the mechanisms that give rise to genomic disorders [Lindstrand et al, 2010]. While subtelomeric deletions of chromosome 9q cause a relatively common and recognizable syndrome [Stewart and Kleefstra, 2007], interstitial deletions are rare and until now approximately 20 patients have been described in the medical literature, spanning the breakpoints from 9q21 to 9q34 [Gamerdinger et al, 2008;Kulharya et al, 2008;Van Bon et al, 2008;Chien et al, 2010;Xu et al, 2013]. These deletions vary in size and localization, leaving some regions underrepresented.…”

Section: Introductionmentioning

confidence: 99%

9q31.1q31.3 deletion in two patients with similar clinical features: A newly recognized microdeletion syndrome?

Mucciolo

Magini

Marozza

et al. 2013

American J of Med Genetics Pt A

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Interstitial deletions of the long arm of chromosome 9 are rare and most patients have been detected by conventional cytogenetic techniques. Disparities in size and localization are large and no consistent region of overlap has been delineated. We report two similar de novo deletions of 6.3 Mb involving the 9q31.1q31.3 region, identified in two monozygotic twins and one unrelated patient through array-CGH analysis. By cloning the deletion breakpoints, we could show that these deletions are not mediated by segmental duplications. The patients displayed a distinct clinical phenotype characterized by mild intellectual disability, short stature with high body mass index, thick hair, arched eyebrows, flat profile with broad chin and mild prognathism, broad, and slightly overhanging tip of the nose, short neck with cervical gibbus. The twin patients developed a metabolic syndrome (type 2 diabetes, hypercholesterolemia, vascular hypertension) during the third decade of life. Although long-term follow-up and collection of additional patients will be needed to obtain a better definition of the phenotype, our findings characterize a previously undescribed syndromic disorder associated with haploinsufficiency of the chromosome 9q31.1q31.3 region.

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A new familial insertion, ins(18;9)(q12.2;q33.1q31.1) with a 9q31.1–9q33.1 deletion in a girl with a cleft lip and palate

Cited by 11 publications

References 16 publications

A novel familial 9q31.2q32 microdeletion: Muscle cramping, somnolence, fatigue, sensorineural hearing loss, pubertal delay, and short stature

A novel familial 9q31.2q32 microdeletion: Muscle cramping, somnolence, fatigue, sensorineural hearing loss, pubertal delay, and short stature

Patients Carrying 9q31.1-q32 Deletion Share Common Features with Cornelia de Lange Syndrome

9q31.1q31.3 deletion in two patients with similar clinical features: A newly recognized microdeletion syndrome?

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