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Interesting case report

Interpretation of clinical relevance of X-chromosome copy number variations identified in a large cohort of individuals with cognitive disorders and/or congenital anomalies

Marjolein H. Willemsen, Nicole de Leeuw, Arjan P.M. de Brouwer, Rolph Pfundt, Jayne Y. Hehir-Kwa, Helger G. Yntema, Willy M. Nillesen, Bert B.A. de Vries, Hans van Bokhoven, Tjitske Kleefstra

http://www.sciencedirect.com/science/article/pii/S1769721212001383

Abstract:  
Genome-wide array studies are now routinely being used in the evaluation of patients with cognitive disorders (CD) and/or congenital anomalies (CA). Therefore, inevitably each clinician is confronted with the challenging task of the interpretation of copy number variations detected by genome-wide array platforms in a diagnostic setting. Clinical interpretation of autosomal copy number variations is already challenging, but assessment of the clinical relevance of copy number variations of the X-chromosome is even more complex. This study provides an overview of the X-Chromosome copy number variations that we have identified by genome-wide array analysis in a large cohort of 4407 male and female patients.We have made an interpretation of the clinical relevance of each of these copy number variations based on well-defined criteria and previous reports in literature and databases. The prevalence of X-chromosome copy number variations in this cohort was 57/4407 (w1.3%), of which 15 (0.3%) were interpreted as (likely) pathogenic.  
 


History File

Previously published Interesting case reports

2016-12
De novo microdeletions of chromosome 6q14.1-q14.3 and 6q12.1-q14.1 in two patients with intellectual disability - further delineation of the 6q14 microdeletion syndrome and review of the literature  
 
2016-10
2p21 Deletions in hypotonia-cystinuria syndrome  
 
2016-08
Duplication of 8q12 encompassing CHD7 is associated with a distinct phenotype but without duane anomaly  
 
2016-06
A de novo 4.4-Mb microdeletion in 2p24.3/p24.2 in a girl with bilateral hearing impairment, microcephaly, digit abnormalities and Feingold syndrome  
 
2016-03
A novel de novo 1.8 Mb microdeletion of 17q21.33 associated with intellectual disability and dysmorphic features  
 
2016-01
An atypical 0.8 Mb inherited duplication of 22q11.2 associated with psychomotor impairment  
 
2015-11
Molecular cytogenetic characterization of 2p23.2p23.3 deletion in a child with developmental delay, hypotonia and cryptorchism  
 
2015-08
A newborn with a 790 kb chromosome 17p13.3 microduplication presenting with aortic stenosis, microcephaly and dysmorphic facial features - Is cardiac assessment necessary for all patients with 17p13.3 microduplication?  
 
2015-04
Interstitial 16p13.3 microduplication: Case report and critical review of genotype-phenotype correlation  
 
2015-02
Prenatal diagnosis of the duplication 17p11.2 associated with PotockieLupski syndrome in a foetus presenting with mildly dysmorphic features  
 
2014-11
2q23.1 microdeletion of the MBD5 gene in a female with seizures, developmental delay and distinct dysmorphic features  
 
2014-06
A de novo 163 kb interstitial 1q44 microdeletion in a boy with thin corpus callosum, psychomotor delay and seizures  
 
2014-04
Delineating the 17q24.2eq24.3 microdeletion syndrome phenotype  
 
2014-03
A 1 Mb de novo deletion within 11q13.1q13.2 in a boy with mild intellectual disability and minor dysmorphic features  
 
2014-01
A de novo 3.57 Mb microdeletion in 8q12.3q13.2 in a patient with mild intellectual disability and epilepsy  
 
2013-11
5p13 microduplication syndrome: A new case and better clinical definition of the syndrome  
 
2013-10
Blepharophimosis, ptosis, epicanthus inversus syndrome with translocation and deletion at chromosome 3q23 in a black African female  
 
2013-09
Sporadic male patients with intellectual disability: Contribution of X-chromosome copy number variants  
 
2007-2013 (1)
Partial trisomy 1q, region 1q31->qter  
 
2007-2013 (2)
Deletion 13q14.3 to q21.32  
 
2007-2013 (3)
Deletion 1p36.33-36.31::36.22-21  
 
2007-2013 (4)
Deletion of 3.2Mb on chromosomeband 4q24