The benefits and limitations of cell‐free DNA screening for 22q11.2 deletion syndrome

No abstract is available for this paper.

• Publication year

  2017

• Venue

  Prenatal Diagnosis

• Publication date

  2017-01-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1002/pd.4864PMID 27329064
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Deletion Syndrome

  2019cited by this paper
• The Use of Chromosomal Microarray Analysis in Prenatal Diagnosis.

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• 22q11.2 deletion syndrome

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• 2 deletion syndrome : deeper sequencing increases the positive predictive value

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• Current Status of Testing for Microdeletion Syndromes and Rare Autosomal Trisomies Using Cell-Free DNA Technology.

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• Fetal phenotype associated with the 22q11 deletion

  2014cited by this paper
• Under-recognition of 22q11.2 deletion in adult Chinese patients with conotruncal anomalies: implications in transitional care.

  2014cited by this paper
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• Variety of prenatally diagnosed congenital heart disease in 22q11.2 deletion syndrome

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• 22q11.2 Deletion syndrome is associated with increased perioperative events and more complicated postoperative course in infants undergoing infant operative correction of truncus arteriosus communis or interrupted aortic arch.

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  2013cited by this paper
• Neonatal hypocalcemia, neonatal seizures, and intellectual disability in 22q11.2 deletion syndrome

  2013cited by this paper
• 22q11.2 Deletions in Patients with Conotruncal Defects: Data from 1,610 Consecutive Cases

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• Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS

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• Chromosomal microarray versus karyotyping for prenatal diagnosis.

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• Practical guidelines for managing patients with 22q11.2 deletion syndrome.

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• Letter to the Editor: What's in a Name?

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• Unmasking of a Recessive SCARF2 Mutation by a 22q11.12 de novo Deletion in a Patient with Van den Ende-Gupta Syndrome

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  2010cited by this paper
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  2009cited by this paper
• Premature death in adults with 22q11.2 deletion syndrome

  2009cited by this paper
• Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes

  2008cited by this paper
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  2008cited by this paper
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  2008cited by this paper
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  2008cited by this paper
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  2006cited by this paper
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  2006cited by this paper
• The 22q11.2 deletion in African‐American patients: An underdiagnosed population?

  2005cited by this paper
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  2004cited by this paper
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  2004cited by this paper
• No justification of routine screening for 22q11 deletions in patients with overt cleft palate

  2003cited by this paper
• Shuffling of genes within low-copy repeats on 22q11 (LCR22) by Alu-mediated recombination events during evolution.

  2003cited by this paper
• Recurrent 22q11.2 deletion in a sibship suggestive of parental germline mosaicism in velocardiofacial syndrome

  2002cited by this paper
• Human-specific duplication and mosaic transcripts: the recent paralogous structure of chromosome 22.

  2002cited by this paper
• Prenatal diagnosis of 22q11.2 deletion when ultrasound examination reveals a heart defect

  2001cited by this paper
• DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1

  2001cited by this paper
• Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: Cast a wide FISHing net!

  2001cited by this paper
• Velopharyngeal incompetence and chromosome 22q11 deletion.

  2001cited by this paper
• TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome.

  2001cited by this paper
• Tbx1 haploinsufficiency in the DiGeorge syndrome region causes aortic arch defects in mice

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• Mice lacking the homologue of the human 22q11.2 gene CRKL phenocopy neurocristopathies of DiGeorge syndrome

  2001cited by this paper
• Dysphagia in children with a 22q11.2 deletion: unusual pattern found on modified barium swallow.

  2000cited by this paper
• Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis.

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• The Philadelphia story: the 22q11.2 deletion: report on 250 patients.

  1999cited by this paper
• Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome.

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  1998cited by this paper
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  1998cited by this paper
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  1995cited by this paper
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  1993cited by this paper
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  1993cited by this paper
• Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11.

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• Microdeletions within 22q11 associated with sporadic and familial DiGeorge syndrome.

  1991cited by this paper
• Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22ql 1

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  2019influential citation
• Genetic Basis of Human Congenital Heart Disease.

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• Cell-Free DNA Screening

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  2018influential citation
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