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Prenatal diagnosis of 24 cases of microduplication 22q11.2: an investigation of phenotype-genotype correlations. | LitMetric

AI Article Synopsis

  • * Out of 24 prenatal cases examined, most were inherited, with some cases showing new mutations, and seven pregnancies were terminated based on ultrasound results.
  • * The research aims to understand the complex relationship between genetic variations and clinical outcomes, emphasizing the role of additional copy number variations in the variability of symptoms associated with the syndrome.

Article Abstract

Objective: Microduplication 22q11.2 is primarily characterized by a highly variable clinical phenotype, which ranges from apparently normal or slightly dysmorphic features (in the presence or absence of learning disorders) to severe malformations with profound mental retardation. Hence, genetic counseling is particularly challenging when microduplication 22q11.2 is identified in a prenatal diagnosis. Here, we report on 24 prenatal cases of microduplication 22q11.2.

Methods: Seventeen of the cases were also reanalyzed by microarray analysis, in order to determine copy number variations (CNVs, which are thought to influence expressivity). We also searched for possible correlations between fetal phenotypes, indications for invasive prenatal diagnosis, inheritance, and pregnancy outcomes.

Results: Of the 24 cases, 15 were inherited, six occurred de novo, and three were of unknown origin. Termination of pregnancy occurred in seven cases and was mainly decided on the basis of ultrasound findings. Moreover, additional CNVs were found in some patients and we try to make a genotype-phenotype correlation.

Conclusion: We discuss the complexity of genetic counseling for microduplication 22q11.2 and comment on possible explanations for the clinical heterogeneity of this syndrome. In particular, we assessed the co-existence of additional CNVs and their contribution to phenotypic variations in chromosome 22q11.2 microduplication syndrome.

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Source
http://dx.doi.org/10.1002/pd.4478DOI Listing

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