Partial trisomy 4q and monosomy 5p inherited from a maternal translocationt(4;5)(q33;p15) in three adverse pregnancies

Abstract

<jats:title>Abstract</jats:title> <jats:p>Background Carriers of balanced reciprocal chromosomal translocations are at known reproductive risk for offspring with unbalanced genotypes and resultantly abnormal phenotypes. After fertilization of a balanced translocation carrier with a normal gamete, the partial monomer or partial trisomy embryo will undergo abortion, fetal arrest or fetal malformatio. We reported a woman with 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 Routine G banding was used to analyze the chromosome karyotypes of amniotic fluid, pregnant women and her son in peripheral blood, and then the chromosomal abnormalities were precisely located by CNV-seq detection. The karyotype of the women was 46,XX,t(4;5)(q33;p15). The karyotypethe of the boy was 46,XY,add(5)(p14). CNV-seq was used for further analysis of the structural chromosomal rearrangement in the boy.The results were shown a deletion of short arm of chromosome 5 capturing regions 5p15.33p15.2, 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. Amniocentesis was performed at 17 weeks of gestation. Chromosome karyotype hinted 46,XY,add(5)(p14). Further detection of chromosomal aberrations by CNV-seq showed a deletion of short arm (p) of chromosome 5 at the segment 5p15.33p15.2 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.</jats:p>

Copy number variants and placental abnormalities in stillborn fetuses: a secondary analysis of the Stillbirth Collaborative Research Network study

“…30 A case study showed a copy gain of the distal region of chromosome 4 at segment 4q32.3q35.2 in a pregnant patient that presented with fetal edema and subsequent fetal loss. 31 Furthermore, the duplication of 16p13.11 is implicated in multiple congenital anomalies in pediatric patients (n=1645). 32 Mutations in MYH11 (myosin heavy chain 11) gene, among several genes in the 16p13.11 region, cause thoracic aortic aneurysms and/or dissections.…”

Copy number variants and placental abnormalities in stillborn fetuses: A secondary analysis of the Stillbirth Collaborative Research Network study

“…30 A case study showed a copy gain of the distal region of chromosome 4 at segment 4q32.3q35.2 in a pregnant patient that presented with fetal edema and subsequent fetal loss. 31 Furthermore, the duplication of 16p13.11 is implicated in multiple congenital anomalies in paediatric patients (n = 1645). 32 Mutations in MYH11 (myosin heavy chain 11) gene, among several genes in the 16p13.11 region, cause thoracic aortic aneurysms and/ or dissections.…”

“…Pathologic placental lesions are found in DiGeorge sequence, characterised by hypoplasia in the umbilical cord arteries and widespread calcification of microthrombi in the arteries of the second and third order villous branches 30 . A case study showed a copy gain of the distal region of chromosome 4 at segment 4q32.3q35.2 in a pregnant patient that presented with fetal edema and subsequent fetal loss 31 . Furthermore, the duplication of 16p13.11 is implicated in multiple congenital anomalies in paediatric patients ( n = 1645) 32 .…”

A novel chromosome 2q24.3‐q32.1 microdeletion in a fetus with multiple malformations

“…Briefly, ultrasound was used to break genomic DNA into 250–300 bp fragments. DNA libraries were constructed by end filling, adapter ligation, and polymerase chain reaction amplification 9 . Then, the DNA libraries underwent hybridization capture and were enriched by the xGen Exome Research Panel v2.0 (IDT).…”

“…DNA libraries were constructed by end filling, adapter ligation, and polymerase chain reaction amplification. 9 Then, the DNA libraries underwent hybridization capture and were enriched by the xGen Exome Research Panel v2.0 (IDT). High throughput sequencing was performed on the DNBSEQ-T7 platform (Beijing Genomics Institute).…”