Xp22.31 copy number variations in 87 fetuses: refined genotype–phenotype correlations by prenatal and postnatal follow-up
Abstract Background Xp22.31 deletion and duplication have been described in various studies, but different laboratories interpret pathogenicity differently. Objectives Our study aimed to refine the genotype–phenotype associations between Xp22.31 copy number variants in fetuses, with the aim of provi...
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| Format: | Article |
| Language: | English |
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BMC
2023-04-01
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| Series: | BMC Medical Genomics |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s12920-023-01493-z |
| _version_ | 1797849816521244672 |
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| author | Huamei Hu Yulin Huang Renke Hou Huanhuan Xu Yalan Liu Xueqian Liao Juchun Xu Lupin Jiang Dan Wang |
| author_facet | Huamei Hu Yulin Huang Renke Hou Huanhuan Xu Yalan Liu Xueqian Liao Juchun Xu Lupin Jiang Dan Wang |
| author_sort | Huamei Hu |
| collection | DOAJ |
| description | Abstract Background Xp22.31 deletion and duplication have been described in various studies, but different laboratories interpret pathogenicity differently. Objectives Our study aimed to refine the genotype–phenotype associations between Xp22.31 copy number variants in fetuses, with the aim of providing data support to genetic counseling. Methods We retrospectively analyzed karyotyping and single nucleotide polymorphism array results from 87 fetuses and their family members. Phenotypic data were obtained through follow-up visits. Results The percentage of fetuses carrying the Xp22.31 deletions (9 females, 12 males) was 24.1% (n = 21), while duplications (38 females, 28 males) accounted for 75.9% (n = 66). Here, we noted that the typical region (from 6.4 to 8.1 Mb, hg19) was detected in the highest ratio, either in the fetuses with deletions (76.2%, 16 of 21) or duplications (69.7%, 46 of 66). In female deletion carriers, termination of pregnancy was chosen for two fetuses, and the remaining seven were born without distinct phenotypic abnormalities. In male deletion carriers, termination of pregnancy was chosen for four fetuses, and the remaining eight of them displayed ichthyosis without neurodevelopmental anomalies. In two of these cases, the chromosomal imbalance was inherited from the maternal grandfathers, who also only had ichthyosis phenotypes. Among the 66 duplication carriers, two cases were lost at follow-up, and pregnancy was terminated for eight cases. There were no other clinical findings in the rest of the 56 fetuses, including two with Xp22.31 tetrasomy, for either male or female carriers. Conclusion Our observations provide support for genetic counseling in male and female carriers of Xp22.31 copy number variants. Most of them are asymptomatic in male deletion carriers, except for skin findings. Our study is consistent with the view that the Xp22.31 duplication may be a benign variant in both sexes. |
| first_indexed | 2024-04-09T18:50:18Z |
| format | Article |
| id | doaj.art-201b0a0eeeda4c358cdfb640b53a5a7e |
| institution | Directory Open Access Journal |
| issn | 1755-8794 |
| language | English |
| last_indexed | 2024-04-09T18:50:18Z |
| publishDate | 2023-04-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Medical Genomics |
| spelling | doaj.art-201b0a0eeeda4c358cdfb640b53a5a7e2023-04-09T11:29:16ZengBMCBMC Medical Genomics1755-87942023-04-011611910.1186/s12920-023-01493-zXp22.31 copy number variations in 87 fetuses: refined genotype–phenotype correlations by prenatal and postnatal follow-upHuamei Hu0Yulin Huang1Renke Hou2Huanhuan Xu3Yalan Liu4Xueqian Liao5Juchun Xu6Lupin Jiang7Dan Wang8Department of Obstetrics and Gynecology, Southwest Hospital, Third Military Medical University (Army Medical University)Department of Obstetrics and Gynecology, Southwest Hospital, Third Military Medical University (Army Medical University)Department of Obstetrics and Gynecology, Southwest Hospital, Third Military Medical University (Army Medical University)Department of Obstetrics and Gynecology, Southwest Hospital, Third Military Medical University (Army Medical University)Department of Obstetrics and Gynecology, Southwest Hospital, Third Military Medical University (Army Medical University)Department of Obstetrics and Gynecology, Southwest Hospital, Third Military Medical University (Army Medical University)Department of Obstetrics and Gynecology, Southwest Hospital, Third Military Medical University (Army Medical University)Department of Obstetrics and Gynecology, Southwest Hospital, Third Military Medical University (Army Medical University)Department of Obstetrics and Gynecology, Southwest Hospital, Third Military Medical University (Army Medical University)Abstract Background Xp22.31 deletion and duplication have been described in various studies, but different laboratories interpret pathogenicity differently. Objectives Our study aimed to refine the genotype–phenotype associations between Xp22.31 copy number variants in fetuses, with the aim of providing data support to genetic counseling. Methods We retrospectively analyzed karyotyping and single nucleotide polymorphism array results from 87 fetuses and their family members. Phenotypic data were obtained through follow-up visits. Results The percentage of fetuses carrying the Xp22.31 deletions (9 females, 12 males) was 24.1% (n = 21), while duplications (38 females, 28 males) accounted for 75.9% (n = 66). Here, we noted that the typical region (from 6.4 to 8.1 Mb, hg19) was detected in the highest ratio, either in the fetuses with deletions (76.2%, 16 of 21) or duplications (69.7%, 46 of 66). In female deletion carriers, termination of pregnancy was chosen for two fetuses, and the remaining seven were born without distinct phenotypic abnormalities. In male deletion carriers, termination of pregnancy was chosen for four fetuses, and the remaining eight of them displayed ichthyosis without neurodevelopmental anomalies. In two of these cases, the chromosomal imbalance was inherited from the maternal grandfathers, who also only had ichthyosis phenotypes. Among the 66 duplication carriers, two cases were lost at follow-up, and pregnancy was terminated for eight cases. There were no other clinical findings in the rest of the 56 fetuses, including two with Xp22.31 tetrasomy, for either male or female carriers. Conclusion Our observations provide support for genetic counseling in male and female carriers of Xp22.31 copy number variants. Most of them are asymptomatic in male deletion carriers, except for skin findings. Our study is consistent with the view that the Xp22.31 duplication may be a benign variant in both sexes.https://doi.org/10.1186/s12920-023-01493-zXp22.31 deletionXp22.31 duplicationX-linked ichthyosisGenetic counseling |
| spellingShingle | Huamei Hu Yulin Huang Renke Hou Huanhuan Xu Yalan Liu Xueqian Liao Juchun Xu Lupin Jiang Dan Wang Xp22.31 copy number variations in 87 fetuses: refined genotype–phenotype correlations by prenatal and postnatal follow-up BMC Medical Genomics Xp22.31 deletion Xp22.31 duplication X-linked ichthyosis Genetic counseling |
| title | Xp22.31 copy number variations in 87 fetuses: refined genotype–phenotype correlations by prenatal and postnatal follow-up |
| title_full | Xp22.31 copy number variations in 87 fetuses: refined genotype–phenotype correlations by prenatal and postnatal follow-up |
| title_fullStr | Xp22.31 copy number variations in 87 fetuses: refined genotype–phenotype correlations by prenatal and postnatal follow-up |
| title_full_unstemmed | Xp22.31 copy number variations in 87 fetuses: refined genotype–phenotype correlations by prenatal and postnatal follow-up |
| title_short | Xp22.31 copy number variations in 87 fetuses: refined genotype–phenotype correlations by prenatal and postnatal follow-up |
| title_sort | xp22 31 copy number variations in 87 fetuses refined genotype phenotype correlations by prenatal and postnatal follow up |
| topic | Xp22.31 deletion Xp22.31 duplication X-linked ichthyosis Genetic counseling |
| url | https://doi.org/10.1186/s12920-023-01493-z |
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