Abstract
Abstract
Background
Full or partial monosomy of chromosome (chr) 21 is a very rare abnormal cytogenetic finding. It is characterized by variable sizes and deletion breakpoints on the long arm (q) of chr 21 that lead to a broad spectrum of phenotypes that include an increased risk of birth defects, developmental delay and intellectual deficit.
Case presentation
We report a 37-year-old G1P0 woman initially screened by non-invasive prenatal testing with no positive findings that was followed by an 18-week anatomy scan with a fetal finding of duplication of the superior vena cava (SVC). The medical and family history was otherwise uneventful. After appropriate genetic counseling, amniocentesis was performed to evaluate suspected chromosomal anomalies.
Conclusions
Interphase fluorescent in situ hybridization revealed loss of one chr 21 signal that was further delineated by chromosomal microarray analysis on uncultured amniocytes as a terminal 10 Mb deletion on chr 21q. Karyotype and microarrays on cultured amniocytes showed two cell lines for a mosaic 21q terminal deletion and monosomy 21. The combined molecular cytogenetics results reported following the ISCN 2016 guideline as mos 46,XX,del(21)(q22)dn[20]/45,XX,-21dn[10].nuc ish(D21S342/D21S341/D21S259x1)[100].arr[GRCh37] 21q11.2q22.12(15412676_36272993)x1~2,21q22.12q22.3(36431283_47612400)x1. Parental chromosomal analysis revealed normal karyotypes. Thus, this was a de novo mosaic full and partial monosomy of chr 21 in a case with SVC duplication. Despite the association of congenital heart disease with monsomy 21 we could not find any published literature or online databases for this cytogenetic abnormality. The patient terminated the pregnancy following the abnormal molecular cytogenetic results due to the possible challenges the baby would face if carried to term.
Publisher
Springer Science and Business Media LLC
Subject
Biochemistry (medical),Genetics (clinical),Genetics,Molecular Biology,Molecular Medicine,Biochemistry
Reference20 articles.
1. Catherine T (2012) Orphanet: ORPHA:574: Monosomy 21. https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=574#:~:text=Monosomy%2021%20is%20a%20chromosomal,developmental%20delay%20and%20intellectual%20deficit.
2. Errichiello E, Novara F, Cremante A, Verri A, Galli J, Fazzi E, Bellotti D, Losa L, Cisternino M, Zuffardi O. Dissection of partial 21q monosomy in different phenotypes: clinical and molecular characterization of five cases and review of the literature. Mol Cytogenet. 2016;9(1):21.
3. Gregg AR, Skotko BG, Benkendorf JL, Monaghan KG, Bajaj K, Best RG, Klugman S, Watson MS. Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics. Genet Med. 2016;18(10):1056–65.
4. Fryns JP, D’Hondt F, Goddeeris P, van den Berghe H. Full monosomy 21: a clinically recognizable syndrome? Hum Genet. 1977;37(2):155–9.
5. Lindstrand A, Malmgren H, Sahlen S, Schoumans J, Nordgren A, Ergander U, Holm E, Anderlid BM, Blennow E. Detailed molecular and clinical characterization of three patients with 21q deletions. Clin Genet. 2010;77(2):145–54.