Prenatal detection of a 7q11.21 microdeletion (517–605?kb)

摘要

In the literature, 7q11 deletion was reported with various abnormalities. However, there were other genetic conditions combined with 7q11.21. It is necessary to have sufficient pure 7q11.21 microdeletions for classifying the pathogenic categories of variation. Chromosomal karyotyping analysis was performed on cultured amniotic fluid cells. Eighteen pregnant women took chromosomal microarray using prenatal amniotic fluid samples at our center by Affymetrix CytoScan750K_Array. We followed the outcome of these pregnancies and determined postnatal health conditions. Cytogenetic studies delineated that all patients had normal karyotypes. The exception was P17, who had 47, XN. Single nucleotide polymorphism array results showed 517 to 605 kb deletions of 7q11.21 (chr7: 64543313-65196780) in these cases. The microarray results were pure or combined 7q11.21 microdeletions. In 11 pure 7q11.21 microdeletions and 7 combined cases, there was no apparent abnormal phenotype associated with partial 7q11.21. Among them, only mothers of P10 and P17 decided to terminate the pregnancies due to 18 trisomy or ultrasound abnormal fetal strephenopodia. In the follow-up survey, the newborns had no apparent abnormalities. In this study, we described 11 pure and 7 combined 7q11.21 microdeletions associating with no apparent postnatal phenotypic abnormalities. From this study, we can learn that the partial 7q11.21 deletion (chr7: 64543313-65196780) might be benign and have no association with human disorders. Abbreviations: CMA = chromosomal microarray, CNVs = copy-number variations, OMIM = Online Mendelian Inheritance in Man, SNP = single nucleotide polymorphism.