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.
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.
Authors: Anne H Mardy; Naseem Rangwala; Yessenia Hernandez-Cruz; Kristen A Gosnell; Juan M Gonzalez; Mary E Norton; Teresa N Sparks Journal: Prenat Diagn Date: 2020-02-11 Impact factor: 3.050
Authors: Jin Mei; Jiao Liu; Min Wang; Wen Zhang; Hao Wang; Sha Lu; Chaying He; Chunlei Jin Journal: Zhejiang Da Xue Xue Bao Yi Xue Ban Date: 2019-06-25
Authors: Lijuan Sun; Qingqing Wu; Shi-Wen Jiang; Yani Yan; Xin Wang; Juan Zhang; Yan Liu; Ling Yao; Yuqing Ma; Li Wang Journal: Biomed Res Int Date: 2015-05-12 Impact factor: 3.411
Authors: Linda T Nguyen; Rachel Fleishman; Emilee Flynn; Rajeev Prasad; Achintya Moulick; Cesar Igor Mesia; Sue Moyer; Reena Jethva Journal: Clin Case Rep Date: 2017-02-11