Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies

Grati, Francesca Romana; Gomes, D. Molina; Ferreira, José Carlos; Dupont, Céline; Alesi, Viola; Gouas, Laëtitia; Horelli‐Kuitunen, Nina; Choy, Kwong Wai; García-Herrero, Sandra; Vega, Alberto González de la; Piotrowski, Krzysztof; Genesio, Rita; Queipo, Gloria; Malvestiti, Barbara; Hervé, Bérénice; Benzacken, Brigitte; Novelli, Antonio; Vago, Philippe; Piippo, Kirsi; Leung, Tak Yeung; Maggi, Federico; Quibel, T.; Tabet, Anne Claude; Simoni, Giuseppe; Vialard, François

doi:10.1002/pd.4613

Cited by 256 publications

(202 citation statements)

References 32 publications

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“…22q11.2 Deletion Syndrome (22q11DS) is a neurogenetic condition with an occurrence rate of 1 in 1000-4000 live births (Grati et al, 2015;Oskarsdóttir et al, 2004). An estimated 30-40% of individuals with 22q11DS will develop schizophrenia (Murphy et al, 1999;Schneider et al, 2014a), making it an attractive model for studying the developmental patterns of schizophrenia and other psychotic disorders (Bassett and Chow, 1999;Gothelf et al, 2005;Murphy and Owen, 2001).…”

Section: Introductionmentioning

confidence: 99%

Morphological brain changes associated with negative symptoms in patients with 22q11.2 Deletion Syndrome

Mihailov

Padula

Scariati

et al. 2017

Schizophrenia Research

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Approximately 30% of individuals with 22q11.2 Deletion Syndrome (22q11DS) develop schizophrenia during adolescence/early adulthood, making this syndrome a model for the disorder. Furthermore, negative symptoms exist in up to 80% of patients diagnosed with 22q11DS. The present study aims to uncover morphological brain alterations associated with negative symptoms in a cohort of patients with 22q11DS who are at-risk for developing schizophrenia. A total of 71 patients with 22q11DS aged 12 to 35 (54% females) with no past or present diagnosis of a schizophrenia were included in the study. Psychotic symptom scores were used to divide patients into subgroups by means of a cluster analysis. Three major subgroups were evident: patients with low negative and positive symptoms; patients with high negative symptoms and low positive symptoms; and patients with high negative and positive symptoms. Cortical volume, thickness and gyrification were compared between subgroups using FreeSurfer software. Results showed that patients with high negative symptoms, compared to those with low negative symptoms, have decreased gyrification in the medial occipito-temporal (MOT) and lateral temporo-parietal (LTP) cortices of the left hemisphere, and in the medial temporal (MT)/posterior cingulate (PCC) cortices of the right hemisphere. These findings suggest that high negative symptoms are associated with gyrification reductions predominantly in medial occipital and temporal regions, which are areas implicated in social cognition and early visual processing. Furthermore, as cortical folding develops in utero and during the first years of life, reduced gyrification may represent an early biomarker predicting the development of negative symptoms.

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Section: Introductionmentioning

confidence: 99%

Morphological brain changes associated with negative symptoms in patients with 22q11.2 Deletion Syndrome

Mihailov

Padula

Scariati

et al. 2017

Schizophrenia Research

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“…Recent studies have indicated that the prevalence of 22q11.2 syndrome is as high as 1 in 1000 [10]. Unlike the trisomies, the risk of microdeletions does not vary with maternal age.…”

Section: Expanding the Paradigm To Other Disordersmentioning

confidence: 99%

“…In most pregnancies the chromosomal make-up of the placenta is identical to that of the fetus. However, in a small proportion of cases a mutation will have occurred after the point at which the cells destined to become the fetus have separated from the cells destined to become the placenta [10]. When this form of discordance occurs, it is termed 'confined placental mosaicism' or 'confined fetal mosaicism' depending on the location of the mosaic cells.…”

Section: Will Nips Ever Be Considered a Diagnostic Test?mentioning

confidence: 99%

Current Concepts in Noninvasive Prenatal Screening (NIPS)

Leonard

2017

Journal of Fetal Medicine

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Noninvasive prenatal screening (NIPS) represents a significant advance in prenatal screening for trisomy 21 and other conditions. Like any new and rapidly developing technology, it is important for healthcare providers to keep up to date with current and developing issues to help ensure that users of tests such as NIPS are well informed. This review intends to outline and explain some of the main current issues with regards to NIPS and to look ahead to the future, in order to increase understanding and inform debate.

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“…The 22q11.2 Deletion Syndrome (22q11.2DS) is the most common microdeletion syndrome in humans, with a prevalence of one in 3,000–6,000 live births and one in 1,000 pregnancies (Botto et al, 2003; Devriendt, Fryns, Mortier, van Thienen, & Keymolen, 1998; Goodship, Cross, LiLing, & Wren, 1998; Grati et al, 2015; Oskarsdóttir, Vujic, & Fasth, 2004; Du Montcel, Mendizabai, Ayme, Levy, & Philip, 1996) Within a subset of the 22q11.2DS patients, congenital anomalies need treatment in the neonatal period of their life. The most severe congenital anomalies include congenital heart disease (CHD), for example, Tetralogy of Fallot, and palatal deficiencies such as cleft palate.…”

Section: Introductionmentioning

confidence: 99%

Club foot in association with the 22q11.2 deletion syndrome: An observational study

Homans

Crowley

Chen

et al. 2018

American J of Med Genetics Pt A

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The 22q11.2 Deletion Syndrome (22q11.2DS) occurs in ~1:3,000–6,000 individuals. Features less typically associated with 22q11.2DS, such as orthopedic manifestations, may be overlooked or may not lead to appropriate diagnostic testing. Club foot has a general population prevalence of ~1:1,000 and has been occasionally described in association with 22q11.2DS. Our hypothesis is that the prevalence of club foot is higher in patients with 22q11.2DS. We performed a retrospective review in two specialized 22q11.2DS centers to determine the prevalence of club foot. “True club foot” requires treatment (either conservative or surgical), therefore we only included those patients with proof of treatment. We investigated whether congenital heart disease (CHD) and/or cleft palate were associated with the presence of club foot within 22q11.2DS. The records of 1,466 patients were reviewed. Of these, 48 (3.3%) had confirmation of club foot (95% Confidence Interval: 2.4–4.3): 22 (46%) had a bilateral, 12 (25%) left, and 14 (29%) right club foot. Within our study, neither a CHD and/or a cleft palate were associated with a club foot. The prevalence of club foot in 22q11.2DS is 30 times higher than that observed in the general population. This suggests the diagnosis of club foot, especially in the face of other typically associated abnormalities of 22q11.2DS, should provoke consideration of 22q11.2DS as an underlying diagnosis, particularly in the neonatal setting.

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Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies

Cited by 256 publications

References 32 publications

Morphological brain changes associated with negative symptoms in patients with 22q11.2 Deletion Syndrome

Morphological brain changes associated with negative symptoms in patients with 22q11.2 Deletion Syndrome

Current Concepts in Noninvasive Prenatal Screening (NIPS)

Club foot in association with the 22q11.2 deletion syndrome: An observational study

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