Prenatal diagnosis and molecular cytogenetic characterization of partial dup (18p)/del (18q) due to a maternal pericentric inversion 18 in a foetus with multiple anomalies
Objective: The 18q terminal deletion with inverted duplication is an extremely rare abnormality, with only three confirmed cases in Europe to date. Here, we report, for the first time, a case of de novo 18q inv-dup-del in a Turkish pregnant woman. Case report: A 30-year-old pregnant woman was referr...
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Elsevier,
2022-05-01T00:00:00Z.
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|---|---|---|---|
| 001 | doaj_b84f7b60f23a418c9825d3a874cd3ba2 | ||
| 042 | |a dc | ||
| 100 | 1 | 0 | |a Emine Ikbal Atli |e author |
| 700 | 1 | 0 | |a Engin Atli |e author |
| 700 | 1 | 0 | |a Cihan Inan |e author |
| 700 | 1 | 0 | |a Gülizar Fusun Varol |e author |
| 700 | 1 | 0 | |a Cisem Mail |e author |
| 700 | 1 | 0 | |a Esra Altan Erbilen |e author |
| 700 | 1 | 0 | |a Sinem Yalcintepe |e author |
| 700 | 1 | 0 | |a Selma Demir |e author |
| 700 | 1 | 0 | |a Hakan Gurkan |e author |
| 245 | 0 | 0 | |a Prenatal diagnosis and molecular cytogenetic characterization of partial dup (18p)/del (18q) due to a maternal pericentric inversion 18 in a foetus with multiple anomalies |
| 260 | |b Elsevier, |c 2022-05-01T00:00:00Z. | ||
| 500 | |a 1028-4559 | ||
| 500 | |a 10.1016/j.tjog.2022.03.018 | ||
| 520 | |a Objective: The 18q terminal deletion with inverted duplication is an extremely rare abnormality, with only three confirmed cases in Europe to date. Here, we report, for the first time, a case of de novo 18q inv-dup-del in a Turkish pregnant woman. Case report: A 30-year-old pregnant woman was referred for genetic analysis at her 25th gestational week due to foetal diaphragmatic hernia and rocker bottom feet. Cytogenetic analysis of the parents revealed a karyotype of 46,XX,inv(18) (p11.3q21.3) of the mother and a normal karyotype of the father. The foetal karyotype was defined as 46,XX,rec(18)del(18q)inv(18) (p11.3q21.3)mat. Conclusion: To our knowledge, this is the first report of a prenatal diagnosis. Genetic counselling issues for this family, particularly affected individuals, include an increased likelihood of reduced fertility and a risk of recurrence of parental inversion equal to 1/2 in surviving offspring. | ||
| 546 | |a EN | ||
| 690 | |a Prenatal diagnosis | ||
| 690 | |a Pericentric inversion | ||
| 690 | |a Chromosome 18 | ||
| 690 | |a Karyotyping | ||
| 690 | |a Gynecology and obstetrics | ||
| 690 | |a RG1-991 | ||
| 655 | 7 | |a article |2 local | |
| 786 | 0 | |n Taiwanese Journal of Obstetrics & Gynecology, Vol 61, Iss 3, Pp 504-509 (2022) | |
| 787 | 0 | |n http://www.sciencedirect.com/science/article/pii/S1028455922000869 | |
| 787 | 0 | |n https://doaj.org/toc/1028-4559 | |
| 856 | 4 | 1 | |u https://doaj.org/article/b84f7b60f23a418c9825d3a874cd3ba2 |z Connect to this object online. |