Mosaicism in 22q11.2 Microdeletion Syndrome

Halder, Ashutosh; Jain, Manish; Kalsi, Amanpreet Kaur

doi:10.7860/jcdr/2018/37540.12234

Cited by 4 publications

(6 citation statements)

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“…It has been previously noticed in other mosaic microdeletion syndromes that the classical phenotype of the disease can be present even with low level of detected mosaicism (Halder et al, 2018; Tekin et al, 2000). This might be explained as a consequence of the mosaicism being measured on limited tissues (such as blood and buccal swab), possibly not reflecting the true rate of mosaicism in those tissues directly affected by the disease (Halder et al, 2018).…”

Section: Discussionmentioning

confidence: 97%

“…Differently from larger chromosomal imbalances and aneuploidies, mosaicism has been infrequently reported in microdeletion syndromes (Al‐Zahrani et al, 2011; Anderlid et al, 2014; Goh et al, 2014; Halder et al, 2018; Huynh et al, 2017; Messiaen et al, 2011; Shimada et al, 2014; Taylor et al, 2014; Tekin et al, 2000). Among the few mosaic microdeletion cases described, 22q11.2 microdeletion (Halder et al, 2018) and NF1 atypical microdeletion syndrome (Messiaen et al, 2011) are the most frequently reported. In the specific case of WS, gonadal mosaicism has only been suspected in a family with recurring 7q11.23 microdeletion in the offspring (Reed et al, 1999).…”

Section: Discussionmentioning

confidence: 99%

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Mosaic Williams syndrome: A case report

Kalantari

Biagio

Valente

et al. 2022

American J of Med Genetics Pt A

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Williams syndrome (WS) is a well‐known genetic disorder caused by heterozygous microdeletions of the 7q11.23 chromosome region. The main clinical features of the syndrome are characteristic facial dysmorphisms, cardiovascular and endocrine anomalies, short stature, mild‐to‐moderate intellectual disability, and a recognizable cognitive and behavioral profile. Differently from large chromosomal imbalances and aneuploidies, mosaicism has only rarely been found in microdeletion syndromes, and mosaic cases with WS phenotype have never been reported. We here describe a 51‐year‐old female patient with the typical clinical features of WS, whose chromosomal microarray analysis and fluorescence in situ hybridization disclosed a 54%–68% germline mosaicism for 7q11.23 deletion.

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Section: Discussionmentioning

confidence: 97%

Section: Discussionmentioning

confidence: 99%

Mosaic Williams syndrome: A case report

Kalantari

Biagio

Valente

et al. 2022

American J of Med Genetics Pt A

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“…Mosaicism in common microdeletion syndromes has usually been reported as case reports (Huynh et al, 2017). Conversely, a study in India showed that mosaicism was not rare in 22q11.2DS (28.2%; Halder et al, 2018). Mosaicism has been shown in the literature to range from fatal to asymptomatic (Halder et al, 2008).…”

Section: Discussionmentioning

confidence: 99%

“…The de novo deletion of 22q11.2DS was found in 90%–95% of identified patients, which means that there were 5%–10% cases with an inherited deletion (McDonald‐McGinn et al, ). Mosaic microdeletion syndrome has been reported as case reports and is considered to be rare, but a study indicated that mosaicism in 22q11.2DS is common with a frequency of 28.2% (Halder, Jain, & Kalsi, ). Mosaicism refers to the presence of more than two cell population genotypes in one individual that results from chromosomal https://en.wikipedia.org/wiki/Non-disjunction, anaphase lagging, and endoreplication (Taylor et al, ).…”

Section: Introductionmentioning

confidence: 99%

A rare mosaic 22q11.2 microdeletion identified in a Chinese family with recurrent fetal conotruncal defects

Chen

Sun

et al. 2019

Molec Gen & Gen Med

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Background 22q11 deletion syndrome (22qDS) is caused by deletion of chromosome region 22q11.2. However, mosaic cases with 22q11.2 deletion syndrome (22q11.2DS) are rarely reported. Methods Chromosomal microarray analysis (CMA) and fluorescence in situ hybridization fluorescence in situ hybridization (FISH) were performed to analyze the copy number alterations. Clinical examinations related to 22q11.2DS were performed on the carrier in this family. Results A healthy female in a Chinese family with a history of two pregnancies with conotruncal defects, one with pulmonary atresia (PA) and another with Tetralogy of Fallot (TOF) was recruited in this study. CMA revealed that the fetus with TOF has a microdeletion on the 22q11.2 locus, and his mother was further confirmed a somatic mosaicism of 22q11.2 microdeletion by interphase FISH. Somatic mosaic 22q11.2 deletion in the mother was validated in the metaphase lymphocytes. Clinical examinations related to 22q11.2DS showed that the mother had hypocalcemia and low percentages of CD4 + T helper cells. The family history of recurrent fetal conotruncal defects and genetic results demonstrated the inherited possibility of maternal germline mosaicism of the 22q11.2 microdeletion. Conclusion Our report was the first case in a Chinese family to present that a somatic and suspected gonadal mosaicism of the 22q11.2 microdeletion in female causes recurrent fetal conotruncal defects.

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“…Research has further shown that besides the influence of environmental measures on the presentation of the 22q11DS, the heterogeneity of the symptoms of 22q11.2 deletions carriers highly depends on (1) the size of the deletion [ 49 ], (2) the particular part of the 22q11.2 locus that is deleted [ 79 ], (3) the developmental stage in which CNVs occur (leading to mosaicism) [ 80 ], and (4) other genetic variables, such as CNVs in other regions and SNPs in associated genes [ 81 , 82 ]. Hence gene × gene interactions are potential research targets, along with the above-mentioned G × E analyses.…”

Section: Future Directionsmentioning

confidence: 99%

Environmental Influences on the Relation between the 22q11.2 Deletion Syndrome and Mental Health: A Literature Review

Snihirova

Linden

Amelsvoort

et al. 2022

Genes

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22q11.2 deletion syndrome (22q11DS) is a clinically heterogeneous genetic syndrome, associated with a wide array of neuropsychiatric symptoms. The clinical presentation is likely to be influenced by environmental factors, yet little is known about this. Here, we review the available research literature on the role of the environment in 22q11DS. We find that within-patient design studies have mainly investigated the role of parental factors, stress, and substance use, reporting significant effects of these factors on the clinical profile. Case-control studies have been less successful, with almost no reports of significant moderating effects of the environment. We go on to hypothesize which specific environmental measures are most likely to interact with the 22q11 deletion, based on the genes in this region and their involvement in molecular pathways. We end by discussing potential reasons for the limited findings so far, including modest sample sizes and limited availability of environmental measures, and make recommendations how to move forward.

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Mosaicism in 22q11.2 Microdeletion Syndrome

Cited by 4 publications

References 0 publications

Mosaic Williams syndrome: A case report

Mosaic Williams syndrome: A case report

A rare mosaic 22q11.2 microdeletion identified in a Chinese family with recurrent fetal conotruncal defects

Environmental Influences on the Relation between the 22q11.2 Deletion Syndrome and Mental Health: A Literature Review

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