Macrothrombocytopenia as diagnosis predictor of 22q11 deletion syndrome among patients with congenital heart defects

Ring chromosome 3, r(3), is an extremely rare cytogenetic abnormality with clinical heterogeneity and only 12 cases reported in the literature. Here, we report a 1-year-old girl presenting distinctive facial features, developmental delay, and congenital heart defects with r(3) and a ∼10-Mb deletion of chromosome 3pterp25.3 (61,891-9,979,408) involving 42 known genes which was detected using G-banding karyotyping and CytoScan 750K-Array. The breakpoints in r(3) were mapped at 3p25.3 and 3q29. We also analyzed the available information on the clinical features of the reported cases with r(3) and 3p deletion syndrome in order to provide more valuable information of genotype-phenotype correlations. To our knowledge, this is the largest detected fragment described in r(3) cases and the second r(3) study using whole-genome microarray.

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Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome

The American Journal of Human Genetics ◽

10.1016/j.ajhg.2015.03.007 ◽

2015 ◽

Vol 96 (5) ◽

pp. 753-764 ◽

Cited By ~ 43

Author(s):

Elisabeth E. Mlynarski ◽

Molly B. Sheridan ◽

Michael Xie ◽

Tingwei Guo ◽

Silvia E. Racedo ◽

...

Keyword(s):

Congenital Heart Defects ◽

Copy Number ◽

Congenital Heart ◽

Glucose Transporter ◽

Heart Defects ◽

22Q11.2 Deletion Syndrome ◽

Deletion Syndrome ◽

Transporter Gene ◽

22Q11.2 Deletion ◽

Number Variation

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Functional analysis of candidate genes in 2q13 deletion syndrome implicates FBLN7 and TMEM87B deficiency in congenital heart defects and FBLN7 in craniofacial malformations

Human Molecular Genetics ◽

10.1093/hmg/ddu144 ◽

2014 ◽

Vol 23 (16) ◽

pp. 4272-4284 ◽

Cited By ~ 19

Author(s):

Mark W. Russell ◽

Maide O. Raeker ◽

Sarah B. Geisler ◽

Peedikayil E. Thomas ◽

Tracy A. Simmons ◽

...

Keyword(s):

Functional Analysis ◽

Candidate Genes ◽

Congenital Heart Defects ◽

Congenital Heart ◽

Heart Defects ◽

Deletion Syndrome ◽

Craniofacial Malformations ◽

2Q13 Deletion

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Screening of 22q11.2DS Using Multiplex Ligation-Dependent Probe Amplification as an Alternative Diagnostic Method

BioMed Research International ◽

10.1155/2020/6945730 ◽

2020 ◽

Vol 2020 ◽

pp. 1-6

Author(s):

Sathiya Maran ◽

Siti Aisyah Faten ◽

Swee-Hua Erin Lim ◽

Kok-Song Lai ◽

Wan Pauzi Wan Ibrahim ◽

...

Keyword(s):

Congenital Heart Defects ◽

Congenital Heart ◽

Diagnostic Method ◽

Heart Defects ◽

22Q11.2 Deletion Syndrome ◽

Confirmatory Test ◽

Deletion Syndrome ◽

Molecular Diagnostic ◽

Nonallelic Homologous Recombination ◽

Dependent Probe

Background. The 22q11.2 deletion syndrome (22q11.2DS) is the most common form of deletion disorder in humans. Low copy repeats flanking the 22q11.2 region confers a substrate for nonallelic homologous recombination (NAHR) events leading to rearrangements which have been reported to be associated with highly variable and expansive phenotypes. The 22q11.2DS is reported as the most common genetic cause of congenital heart defects (CHDs). Methods. A total of 42 patients with congenital heart defects, as confirmed by echocardiography, were recruited. Genetic molecular analysis using a fluorescence in situ hybridization (FISH) technique was conducted as part of routine 22q11.2DS screening, followed by multiplex ligation-dependent probe amplification (MLPA), which serves as a confirmatory test. Results. Two of the 42 CHD cases (4.76%) indicated the presence of 22q11.2DS, and interestingly, both cases have conotruncal heart defects. In terms of concordance of techniques used, MLPA is superior since it can detect deletions within the 22q11.2 locus and outside of the typically deleted region (TDR) as well as duplications. Conclusion. The incidence of 22q11.2DS among patients with CHD in the east coast of Malaysia is 0.047. MLPA is a scalable and affordable alternative molecular diagnostic method in the screening of 22q11.2DS and can be routinely applied for the diagnosis of deletion syndromes.

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Congenital heart defects in the recurrent 2q13 deletion syndrome

European Journal of Medical Genetics ◽

10.1016/j.ejmg.2021.104381 ◽

2021 ◽

pp. 104381

Author(s):

M.C. Digilio ◽

M.L. Dentici ◽

S. Loddo ◽

L. Laino ◽

G. Calcagni ◽

...

Keyword(s):

Congenital Heart Defects ◽

Congenital Heart ◽

Heart Defects ◽

Deletion Syndrome ◽

2Q13 Deletion

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Sinus of Valsalva Aneurysm Rupture: An Unusual Presentation of Chromosome 22q11.2 Deletion: A Case Report

Case Reports in Pediatrics ◽

10.1155/2012/387075 ◽

2012 ◽

Vol 2012 ◽

pp. 1-4 ◽

Cited By ~ 1

Author(s):

Eda-Cristina Abuchaibe ◽

Nancy Dobrolet ◽

Katherine Peicher ◽

Roque Ventura ◽

Elizabeth Welch

Keyword(s):

Learning Disability ◽

Congenital Heart ◽

Heart Defects ◽

Aneurysm Rupture ◽

Deletion Syndrome ◽

22Q11 Deletion ◽

Sinus Of Valsalva ◽

Sinus Of Valsalva Aneurysm ◽

First Case ◽

Chromosome 22Q11

Sinus of Valsalva aneurysm (SVA) is defined as a weakness in the aortic valve wall, immediately above the attachments of each of the aortic cusps. This weakness can rupture and create an aortocardiac fistula. There are many congenital heart defects associated with chromosome 22q11 deletion, especially involving the aortic arch and its branches. SVA is not an anomaly usually associated with chromosome 22 deletion. We report the case of a 19-year-old female who presented to our institution with SVA rupture. She was subsequently diagnosed with chromosome 22q11 deletion syndrome. Despite dysmorphic facial features and a learning disability, our patient had not been diagnosed with the chromosome abnormality. SVA is a rare congenital heart defect and has only once previously been reported in a child with a chromosome 22q11 deletion. We report the first case where aneurysm rupture preceded the chromosomal findings. Chromosome 22q11 deletion could be missed due to either the unfamiliarity of physicians with the syndrome or the variability and subtlety of the phenotype. This was demonstrated by our patient who, at age 19 after presenting with an SVA rupture, prompted physicians to find an explanation for her coexisting dysmorphic features and her learning disability.

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22q11 Deletion Syndrome and Limb Anomalies: Report on Two Brazilian Patients

The Cleft Palate-Craniofacial Journal ◽

10.1597/06-170.1 ◽

2008 ◽

Vol 45 (5) ◽

pp. 561-566 ◽

Cited By ~ 2

Author(s):

Nancy Mizue Kokitsu-Nakata ◽

Maria Leine Guion-Almeida ◽

Antonio Richieri-Costa

Keyword(s):

Developmental Delay ◽

Congenital Heart ◽

Clinical Signs ◽

Velopharyngeal Insufficiency ◽

Deletion Syndrome ◽

22Q11 Deletion ◽

22Q11 Deletion Syndrome ◽

Cardiac Anomalies ◽

Limb Anomalies ◽

Chromosome 22Q11

Objective: To report on two Brazilian patients with chromosome 22q11 deletion who presented with velopharyngeal insufficiency, congenital heart anomalies, developmental delay, and limb anomalies. The pattern of limb anomalies in these patients, which range from ectrodactyly to limb synostosis, is very uncommon in 22q11 deletion syndrome. Conclusion: These patients widen the spectrum of clinical signs of the 22q11 deletion syndrome and alert researchers to conduct additional investigation in patients with limb involvement with velopharyngeal insufficiency and/or cardiac anomalies, along with developmental delay.

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