Partial trisomy 4q and monosomy 5p inherited from a maternal translocationt(4;5)(q33; p15) in three adverse pregnancies
Partial trisomy 4q and monosomy 5p inherited from a maternal translocationt(4;5)(q33; p15) in three adverse pregnancies
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Abstract Background Carriers of balanced reciprocal chromosomal translocations are at known reproductive risk for offspring with unbalanced genotypes and resultantly abnormal phenotypes.Once fertilization of a balanced translocation gamete with a normal gamete, the partial monosomy or partial trisomy kebableikkuri embryo will undergo abortion, fetal arrest or fetal malformations.We reported a woman with chromosomal balanced translocation who had two adverse pregnancies.
Prenatal diagnosis was made for her third pregnancy to provide genetic counseling and guide her fertility.Case presentation We presented a woman with chromosomal balanced translocation who had three adverse pregnancies.Routine G banding and CNV-seq were used to analyze the chromosome karyotypes and copy number variants of amniotic fluid cells and peripheral blood.
The karyotype of the woman was 46,XX,t(4;5)(q33;p15).During her first pregnancy, odinopoeia was performed due to fetal edema and abdominal fluid.The umbilical cord tissue of the fetus was examined by CNV-seq.
The results showed a genomic gain of 24.18 Mb at 4q32.3-q35.
2 and a genomic deletion of 10.84 Mb at 5p15.2-p15.
33 and 2.36 Mb at 15q11.1-q11.
2.During her second pregnancy, she did not receive a prenatal diagnosis because a routine prenatal ultrasound examination found no abnormalities.In 2016, she gave birth to a boy.
The karyotype the of the boy was 46,XY,der(5)t(4;5)(q33;p15)mat.The results of CNV-seq showed a deletion of probiowrap short arm of chromosome 5 capturing regions 5p15.2-p15.
33, a copy gain of the distal region of chromosome 4 at segment 4q32.3q35.2, a duplication of chromosome 1 at segment 1q41q42.
11 and a duplication of chromosome 17 at segment 17p12.During her third pregnancy, she underwent amniocentesis at 17 weeks of gestation.Chromosome karyotype hinted 46,XY,der(5)t(4;5)(q33;p15)mat.
Results of CNV-seq showed a deletion of short arm (p) of chromosome 5 at the segment 5p15.2p15.33 and a duplication of the distal region of chromosome 4 at segment 4q32.
3q35.2.Conclusions Chromosomal abnormalities in three pregnancies were inherited from the mother.
Preimplantation genetic diagnosis is recommended to prevent the birth of children with chromosomal abnormalities.