Relevance of Copy Number Variation at Chromosome X in Male Fetuses Inherited from the Mother May Be Ascertained by Including Male Relatives from the Maternal Lineage in Addition to Trio Analyses
Chromosome microarray analysis has been used for prenatal detection of copy number variations (CNVs) and genetic counseling of CNVs has been greatly improved after the accumulation of knowledge from postnatal outcomes in terms of the genotype-phenotype correlation. However, a significant number of C...
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MDPI AG
2020-08-01
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| Series: | Genes |
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| Online Access: | https://www.mdpi.com/2073-4425/11/9/979 |
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| author | Ming Chen Wan-Ju Wu Mei-Hui Lee Tien-Hsiung Ku Gwo-Chin Ma |
| author_facet | Ming Chen Wan-Ju Wu Mei-Hui Lee Tien-Hsiung Ku Gwo-Chin Ma |
| author_sort | Ming Chen |
| collection | DOAJ |
| description | Chromosome microarray analysis has been used for prenatal detection of copy number variations (CNVs) and genetic counseling of CNVs has been greatly improved after the accumulation of knowledge from postnatal outcomes in terms of the genotype-phenotype correlation. However, a significant number of CNVs are still regarded as variants of unknown significance (VUS). CNVs at the chromosome X (X-CNVs) represent a unique group of genetic changes in genetic counseling; X-CNVs are similar to X-linked recessive monogenic disorders in that the prognosis in males is expected to be poor. Trio analysis is typically advised to patients with X-CNVs but such an approach may be inadequate in prenatal settings since the clinical relevance is sometimes uninformative, particularly for the maternally inherited X-CNVs in male fetuses. Here, we reported four healthy women whose male fetuses were found to have X-CNVs inherited from the mothers. The X-CNVs were initially recognized as VUS or likely pathogenic in males according to the publicly available information. After extending genetic analyses to male relatives of the maternal lineages, however, the relevance of the X-CNVs was reconsidered to be likely benign. The results highlight that an extended analysis to include more relatives, in addition to the parents, provides further information for genetic counseling when X-CNVs are encountered in prenatal settings. |
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| language | English |
| last_indexed | 2024-03-10T16:59:23Z |
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| spelling | doaj.art-de498cede34345e398af678345bf700b2023-11-20T11:01:31ZengMDPI AGGenes2073-44252020-08-0111997910.3390/genes11090979Relevance of Copy Number Variation at Chromosome X in Male Fetuses Inherited from the Mother May Be Ascertained by Including Male Relatives from the Maternal Lineage in Addition to Trio AnalysesMing Chen0Wan-Ju Wu1Mei-Hui Lee2Tien-Hsiung Ku3Gwo-Chin Ma4Department of Genomic Medicine and Center for Medical Genetics, Changhua Christian Hospital, Changhua 50046, TaiwanDepartment of Genomic Medicine and Center for Medical Genetics, Changhua Christian Hospital, Changhua 50046, TaiwanDepartment of Genomic Medicine and Center for Medical Genetics, Changhua Christian Hospital, Changhua 50046, TaiwanDepartment of Anesthesiology, Changhua Christian Hospital, Changhua 50006, TaiwanDepartment of Genomic Medicine and Center for Medical Genetics, Changhua Christian Hospital, Changhua 50046, TaiwanChromosome microarray analysis has been used for prenatal detection of copy number variations (CNVs) and genetic counseling of CNVs has been greatly improved after the accumulation of knowledge from postnatal outcomes in terms of the genotype-phenotype correlation. However, a significant number of CNVs are still regarded as variants of unknown significance (VUS). CNVs at the chromosome X (X-CNVs) represent a unique group of genetic changes in genetic counseling; X-CNVs are similar to X-linked recessive monogenic disorders in that the prognosis in males is expected to be poor. Trio analysis is typically advised to patients with X-CNVs but such an approach may be inadequate in prenatal settings since the clinical relevance is sometimes uninformative, particularly for the maternally inherited X-CNVs in male fetuses. Here, we reported four healthy women whose male fetuses were found to have X-CNVs inherited from the mothers. The X-CNVs were initially recognized as VUS or likely pathogenic in males according to the publicly available information. After extending genetic analyses to male relatives of the maternal lineages, however, the relevance of the X-CNVs was reconsidered to be likely benign. The results highlight that an extended analysis to include more relatives, in addition to the parents, provides further information for genetic counseling when X-CNVs are encountered in prenatal settings.https://www.mdpi.com/2073-4425/11/9/979microarraychromosome XCNVprenatal diagnosisgenetic counseling |
| spellingShingle | Ming Chen Wan-Ju Wu Mei-Hui Lee Tien-Hsiung Ku Gwo-Chin Ma Relevance of Copy Number Variation at Chromosome X in Male Fetuses Inherited from the Mother May Be Ascertained by Including Male Relatives from the Maternal Lineage in Addition to Trio Analyses Genes microarray chromosome X CNV prenatal diagnosis genetic counseling |
| title | Relevance of Copy Number Variation at Chromosome X in Male Fetuses Inherited from the Mother May Be Ascertained by Including Male Relatives from the Maternal Lineage in Addition to Trio Analyses |
| title_full | Relevance of Copy Number Variation at Chromosome X in Male Fetuses Inherited from the Mother May Be Ascertained by Including Male Relatives from the Maternal Lineage in Addition to Trio Analyses |
| title_fullStr | Relevance of Copy Number Variation at Chromosome X in Male Fetuses Inherited from the Mother May Be Ascertained by Including Male Relatives from the Maternal Lineage in Addition to Trio Analyses |
| title_full_unstemmed | Relevance of Copy Number Variation at Chromosome X in Male Fetuses Inherited from the Mother May Be Ascertained by Including Male Relatives from the Maternal Lineage in Addition to Trio Analyses |
| title_short | Relevance of Copy Number Variation at Chromosome X in Male Fetuses Inherited from the Mother May Be Ascertained by Including Male Relatives from the Maternal Lineage in Addition to Trio Analyses |
| title_sort | relevance of copy number variation at chromosome x in male fetuses inherited from the mother may be ascertained by including male relatives from the maternal lineage in addition to trio analyses |
| topic | microarray chromosome X CNV prenatal diagnosis genetic counseling |
| url | https://www.mdpi.com/2073-4425/11/9/979 |
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