Trisomy 21 with Maternally Inherited Balanced Translocation (15q;22q) in a Female Fetus: A Rare Case of Probable Interchromosomal Effect

Overview

Journal Cells

Publisher MDPI

Specialties Biochemistry
Biophysics
Cell Biology
Molecular Biology

Date 2024 Jul 12

PMID 38994932

Authors

Alessandro De Falco

Antonella Gambale

Michele Pinelli

Teresa Suero

Luigia De Falco

Achille Iolascon

Stefania Martone

Affiliations

Soon will be listed here.

Abstract

Chromosomal rearrangements can interfere with the disjunction and segregation of other chromosome pairs not involved in the rearrangements, promoting the occurrence of numerical abnormalities in resulting gametes and predisposition to trisomy in offspring. This phenomenon of interference is known as the interchromosomal effect (ICE). Here we report a prenatal case potentially generated by ICE. The first-trimester screening ultrasound of the pregnant woman was normal, but the NIPT indicated a high risk for three copies of chromosome 21, thus suspecting trisomy 21 (T21). After a comprehensive clinical evaluation and genetic counseling, the couple decided to undergo amniocentesis. The prenatal karyotype confirmed T21 but also showed a balanced translocation between the long arm of chromosome 15 (q22) and the long arm of chromosome 22. The parents' karyotypes also showed that the mother had the 15;22 translocation. We reviewed T21 screening methods, and we performed a literature review on ICE, a generally overlooked phenomenon. We observed that ours is the first report of a prenatal case potentially due to ICE derived from the mother. The recurrence risk of aneuploidy in the offspring of translocated individuals is likely slightly increased, but it is not possible to estimate to what extent. In addition to supporting observations, there are still open questions such as, how frequent is ICE? How much is the aneuploidy risk altered by ICE?

References

Haddow J, Palomaki G, Knight G, Williams J, Pulkkinen A, Canick J . Prenatal screening for Down's syndrome with use of maternal serum markers. N Engl J Med. 1992; 327(9):588-93. DOI: 10.1056/NEJM199208273270902. View

Johannisson R, Lohrs U, Wolff H, Schwinger E . Two different XY-quadrivalent associations and impairment of fertility in men. Cytogenet Cell Genet. 1987; 45(3-4):222-30. DOI: 10.1159/000132458. View

Codina-Pascual M, Navarro J, Oliver-Bonet M, Kraus J, Speicher M, Arango O . Behaviour of human heterochromatic regions during the synapsis of homologous chromosomes. Hum Reprod. 2006; 21(6):1490-7. DOI: 10.1093/humrep/del028. View

Saller Jr D, Canick J . Maternal serum screening for fetal Down syndrome: clinical aspects. Clin Obstet Gynecol. 1996; 39(4):783-92. DOI: 10.1097/00003081-199612000-00007. View

Ogur G, Van Assche E, Vegetti W, Verheyen G, Tournaye H, Bonduelle M . Chromosomal segregation in spermatozoa of 14 Robertsonian translocation carriers. Mol Hum Reprod. 2006; 12(3):209-15. DOI: 10.1093/molehr/gah253. View

Kleinfinger P, Lohmann L, Luscan A, Trost D, Bidat L, Debarge V . Strategy for Use of Genome-Wide Non-Invasive Prenatal Testing for Rare Autosomal Aneuploidies and Unbalanced Structural Chromosomal Anomalies. J Clin Med. 2020; 9(8). PMC: 7464024. DOI: 10.3390/jcm9082466. View

Joyce E, McKim K . Chromosome axis defects induce a checkpoint-mediated delay and interchromosomal effect on crossing over during Drosophila meiosis. PLoS Genet. 2010; 6(8). PMC: 2920846. DOI: 10.1371/journal.pgen.1001059. View

Ratomponirina C, Dutrillaux B, Carre-Pigeon F, Rumpler Y . Meiotic association between the XY chromosomes and the autosomal quadrivalent of a reciprocal translocation in two infertile men, 46,XY,t(19;22) and 46,XY,t(17;21). Cytogenet Cell Genet. 1986; 43(3-4):154-60. DOI: 10.1159/000132314. View

Cuckle H, Wald N, Thompson S . Estimating a woman's risk of having a pregnancy associated with Down's syndrome using her age and serum alpha-fetoprotein level. Br J Obstet Gynaecol. 1987; 94(5):387-402. DOI: 10.1111/j.1471-0528.1987.tb03115.x. View

10.

Cheng E, Chen Y, Disteche C, Gartler S . Analysis of a paracentric inversion in human oocytes: nonhomologous pairing in pachytene. Hum Genet. 2000; 105(3):191-6. DOI: 10.1007/s004399900120. View

11.

Pertile M, Flowers N, Vavrek D, Andrews D, Kalista T, Craig A . Performance of a Paired-End Sequencing-Based Noninvasive Prenatal Screening Test in the Detection of Genome-Wide Fetal Chromosomal Anomalies. Clin Chem. 2021; 67(9):1210-1219. DOI: 10.1093/clinchem/hvab067. View

12.

Stene J, Stene E, Mikkelsen M . Risk for chromosome abnormality at amniocentesis following a child with a non-inherited chromosome aberration. A European Collaborative Study on Prenatal Diagnoses 1981. Prenat Diagn. 1984; 4 Spec No:81-95. DOI: 10.1002/pd.1970040707. View

13.

Mann K, Fox S, Abbs S, Yau S, Scriven P, Docherty Z . Development and implementation of a new rapid aneuploidy diagnostic service within the UK National Health Service and implications for the future of prenatal diagnosis. Lancet. 2001; 358(9287):1057-61. DOI: 10.1016/S0140-6736(01)06183-9. View

14.

Anton E, Vidal F, Blanco J . Interchromosomal effect analyses by sperm FISH: incidence and distribution among reorganization carriers. Syst Biol Reprod Med. 2011; 57(6):268-78. DOI: 10.3109/19396368.2011.633682. View

15.

Cremer T, Cremer M, Dietzel S, Muller S, Solovei I, Fakan S . Chromosome territories--a functional nuclear landscape. Curr Opin Cell Biol. 2006; 18(3):307-16. DOI: 10.1016/j.ceb.2006.04.007. View

16.

Chitty L, Hudgins L, Norton M . Current controversies in prenatal diagnosis 2: Cell-free DNA prenatal screening should be used to identify all chromosome abnormalities. Prenat Diagn. 2018; 38(3):160-165. DOI: 10.1002/pd.5216. View

17.

Lo Y, Zhang J, Leung T, Lau T, Chang A, Hjelm N . Rapid clearance of fetal DNA from maternal plasma. Am J Hum Genet. 1999; 64(1):218-24. PMC: 1377720. DOI: 10.1086/302205. View

18.

Schoemaker M, Jones M, Higgins C, Wright A, Swerdlow A . Mortality and Cancer Incidence in Carriers of Balanced Robertsonian Translocations: A National Cohort Study. Am J Epidemiol. 2018; 188(3):500-508. PMC: 6395160. DOI: 10.1093/aje/kwy266. View

19.

Chitty L . Antenatal screening for aneuploidy. Curr Opin Obstet Gynecol. 1998; 10(2):91-6. DOI: 10.1097/00001703-199804000-00003. View

20.

Tamaren J, Spuhler K, SUJANSKY E . Risk of Down syndrome among second- and third-degree relatives of a proband with trisomy 21. Am J Med Genet. 1983; 15(3):393-403. DOI: 10.1002/ajmg.1320150305. View