A cryptic unbalanced translocation t(2;9)(p25.2;q34.3) causes the phenotype of 9q subtelomeric deletion syndrome and additional exophthalmos and joint contractures

Busche, Andreas; Klopocki, Eva; Ullmann, Reinhard; Mundlos, Stefan; Horn, Denise

doi:10.1016/j.ejmg.2008.06.006

Cited by 5 publications

(6 citation statements)

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“…Chromosomal disorders, particularly trisomy 18 and mosaic trisomy 8 and also microdeletion syndromes are associated with congenital contractures and most would predict an increased risk for intellectual impairment. Chromosomal microarray may also reveal microdeletions leading to haploinsufficiency of single genes disorders known to cause fetal akinesia (contiguous gene syndromes).…”

Section: Resultsmentioning

confidence: 99%

“…Various CNS malformations, including brain and cord, interfere with fetal neuromuscular development and should be looked for in any fetal movement disorder by using ultrasound and MRI imaging. Chromosomal disorders, particularly trisomy 18 and mosaic trisomy 8 and also microdeletion syndromes [63][64][65] are associated with congenital contractures and most would predict an increased risk for intellectual impairment. Chromosomal microarray may also reveal microdeletions leading to haploinsufficiency of single genes disorders known to cause fetal akinesia (contiguous gene syndromes).…”

Section: Gene Symbol (Hgnc) Accession Refseq Chromosomal Region Condimentioning

confidence: 99%

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Failure to identify antenatal multiple congenital contractures and fetal akinesia – proposal of guidelines to improve diagnosis

Filges

Hall

2013

Prenatal Diagnosis

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Prenatal detection rate of multiple congenital contractures is appalling. Failure of diagnosis precludes further etiologic and diagnostic workup and deprives families of making informed pregnancy choices. Standards for prenatal diagnosis are lacking, but on the basis of current knowledge and expert opinion, we propose the first guidelines for a prenatal diagnostic strategy, discuss future directions and the need for multicentric studies.

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Section: Resultsmentioning

confidence: 99%

Section: Gene Symbol (Hgnc) Accession Refseq Chromosomal Region Condimentioning

confidence: 99%

Failure to identify antenatal multiple congenital contractures and fetal akinesia – proposal of guidelines to improve diagnosis

Filges

Hall

2013

Prenatal Diagnosis

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“…In this study, only conventional cytogenetic analyses were performed. Recent studies using array comparative genomic hybridization have led to identify several copy number variations but these studies concerned isolated case reports only and no large series have been published until now [37,38,39,40,41,42]. …”

Section: Discussionmentioning

confidence: 99%

Neural Tube Defects: The Experience of the Registry of Congenital Malformations of Alsace, France, 1995-2009

et al. 2014

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Context and Objective: Considering the lack of accurate and up-to-date information available about neural tube defects (NTDs) in France, the purpose of this study was to review clinical and epidemiological data of NTDs and to evaluate the current efficiency of prenatal diagnosis in Alsace (northeastern France). Methods: A population-based retrospective study was performed from data of the Registry of Congenital Malformations of Alsace between 1995 and 2009. Data were analyzed as a whole and according to the anatomical type of the malformation (anencephaly, cephalocele and spina bifida). Statistical analyses were carried out using the Statistical Package for the Social Sciences. Results: 272 NTDs were recorded divided in 113 cases of anencephaly (42%), 35 cases of cephalocele (13%) and 124 cases of spina bifida (45%). The total prevalence at birth of 14/10,000 (95% CI 13-16) was stable throughout the reporting period. A chromosome abnormality was identified in 27 cases (12% of all karyotyped cases). NTDs were prenatally diagnosed by ultrasound in 88% of the cases. The mean age upon prenatal diagnosis slightly declined during the 15-year period, significantly for spina bifida only. The global rate of terminations of pregnancy following prenatal diagnosis was 97% (230/238). Conclusion: This work constitutes a unique population-based study providing accurate and specific up-to-date data from a unique center over a longer period (1995-2009). The most important information concerns the high and stable prevalence, which calls into question the efficiency of the primary prevention by folic acid supplementation and the efficiency of prenatal diagnosis.

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“…Central nervous system malformations should be looked for in any fetal movement disorder. Chromosomal disorders, particularly trisomy 18 and mosaic trisomy 8, but also microdeletion syndromes are associated with congenital contractures, and most would predict an increased risk for intellectual impairment. Some monogenic causes may be detected by molecular analysis.…”

Section: Why Is the Detection Rate So Poor In A Condition That Leads mentioning

confidence: 99%

We are failing to identify disorders of fetal movement – why?

Filges

Hall

2012

Prenatal Diagnosis

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A cryptic unbalanced translocation t(2;9)(p25.2;q34.3) causes the phenotype of 9q subtelomeric deletion syndrome and additional exophthalmos and joint contractures

Cited by 5 publications

References 10 publications

Failure to identify antenatal multiple congenital contractures and fetal akinesia – proposal of guidelines to improve diagnosis

Failure to identify antenatal multiple congenital contractures and fetal akinesia – proposal of guidelines to improve diagnosis

Neural Tube Defects: The Experience of the Registry of Congenital Malformations of Alsace, France, 1995-2009

We are failing to identify disorders of fetal movement – why?

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