Talk:Trisomy Mosaicism

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Cite this page: Hill, M.A. (2019, November 21) Embryology Trisomy Mosaicism. Retrieved from


J Clin Lab Anal. 2019 Feb;33(2):e22663. doi: 10.1002/jcla.22663. Epub 2018 Sep 26. Mosaic trisomy 22 in a 4-year-old boy with congenital heart disease and general hypotrophy: A case report. Kalayinia S1,2, Shahani T1, Biglari A1, Maleki M2, Rokni-Zadeh H3, Razavi Z4, Mahdieh N2. Author information Abstract BACKGROUND: Trisomy 22 mosaicism is a rare autosomal anomaly with survival compatibility. Recognition of the complete trisomy 22 which is incompatible with life from the mosaic form is critical for genetic counseling. Affected mosaic cases have prevalent clinical presentations such as webbed neck, developmental delay, abnormal ears, cardiac disorders, and microcephaly. Phenotype of these patients is milder than full chromosomal aneuploidy, and the severity of the phenotype depends on the count of trisomic cells. We describe a 4-year-old boy with mosaic trisomy 22 from healthy parents and no family history of any genetic disorders in the pedigree. METHOD AND RESULTS: The patient had determined dysmorphic clinical features including facial asymmetry, cleft palate, gastroenteritis, hydronephrosis, developmental delay, genital anomalies, dysplastic toenails, flattened nasal bridge, congenital heart defect, hearing loss, cryptorchidism, and hypotonic muscle. He is the first reported with hypothyroidism and larynx wall thickness in worldwide and the first with atrial septal defect (ASD) from Iran. Chromosomal analyses using G-banding indicated a de novo Mos 47,XY,+22(6)/46,XY(44) karyotype with no other chromosomal structural changes. CONCLUSIONS: Our observations confirm the importance of cytogenetic analyses for determining the cause of congenital anomalies and provide a useful genetic counseling. In addition, due to the fact that some of mosaic trisomy 22 features are unavoidable such as CHD and general hypotrophy, we suggest including echocardiography test for early diagnosis during the clinical assessment. © 2018 Wiley Periodicals, Inc. KEYWORDS: atrial septal defect; hypothyroidism; karyotype; mosaicism; trisomy PMID: 30259573 DOI: 10.1002/jcla.22663


Prenat Diagn. 2018 Sep;38(10):765-771. doi: 10.1002/pd.5325. Epub 2018 Jul 17. Rare autosomal trisomies: Important and not so rare. Scott F1,2, Bonifacio M3, Sandow R1, Ellis K3, Smet ME1, McLennan A1,4. Author information Abstract OBJECTIVE: Noninvasive prenatal testing (NIPT) can assess chromosomes other than 13, 18, 21, X and Y. These rare autosomal trisomies (RATs) can adversely affect pregnancy outcome. METHODS: A prospective study of NIPT using the Illumina sequencing platform assessing all chromosomes were reported for further management. RESULTS: There were 28 RATs identified in 23 388 samples (one in 835), the most common being trisomy 7 (n = 6), followed by trisomy 16 (n = 4) and trisomy 22 (n = 3). Abnormal outcomes occurred in 16 cases: miscarriage (n = 6), true fetal mosaicism (n = 5), and fetal structural anomaly on ultrasound (n = 5). Growth restriction was seen in eight cases and correlated with very low-pregnancy-associated plasma protein-A levels. Two of the 17 live born babies had a structural anomaly, and one had a phenotype similar to mosaic trisomy 16 despite a normal microarray result. CONCLUSION: Rare autosomal trisomies are not rare and often associated with poor obstetric outcomes. They should be discussed with the clinician to guide management. Pregnancy outcomes varied by chromosome being generally favourable for some (eg, trisomy 7) and poor for others (eg, trisomy 22). In the presence of a RAT, pregnancy-associated plasma protein-A is predictive of placental dysfunction and fetal growth restriction. © 2018 John Wiley & Sons, Ltd. PMID: 29956348 DOI: 10.1002/pd.5325

Prenat Diagn. 2018 Nov;38(12):911-919. doi: 10.1002/pd.5354. Epub 2018 Sep 27. Unexpected finding of uniparental disomy mosaicism in term placentas: Is it a common feature in trisomic placentas? Van Opstal D1, Diderich KEM1, Joosten M1, Govaerts LCP1, Polak J1, Boter M1, Saris JJ1, Cheung WY1, van Veen S1, van de Helm R1, Go ATJI2, Knapen MFCM2, Papatsonis DNM3, Dijkman A4, de Vries F1, Galjaard RH1, Hoefsloot LH1, Srebniak MI1. Author information Abstract OBJECTIVE: Non-invasive prenatal testing (NIPT) detects placental chromosome aberrations. When amniocentesis reveals a normal karyotype, confined placental mosaicism (CPM) may be assumed. In order to confirm this, placental cytogenetic studies were performed. METHOD: NIPT was conducted in the course of the Dutch TRIDENT study. Placentas of 10 cases with NIPT results indicating an autosomal trisomy and showing a normal (N = 9) or low mosaic karyotype (N = 1) in amniotic fluid (AF) were investigated. The cytotrophoblast as well as the mesenchymal core of two to four placental chorionic villi biopsies were studied with single nucleotide polymorphism (SNP) array. Clinical outcome data were collected. RESULTS: In 10/10 cases, CPM was proven. In 3/10 cases trisomy/uniparental disomy (UPD)/biparental disomy (BPD) mosaicism was discovered. In 2/3 cases, all three cell lines were present in the placenta, whereas BPD was found in AF. In 1/3 cases trisomy 22/UPD22 was present in AF while trisomy 22/BPD22 mosaicism was found in the placenta. Five of 10 pregnancies were affected with pre-eclampsia, low birth weight, preterm delivery, and/or congenital malformations. CONCLUSION: The presence of trisomy/UPD/BPD mosaicism in 3/10 cases that we investigated proves that trisomic zygote rescue may involve multiple rescue events during early embryogenesis. UPD mosaicism, when present in crucial fetal tissues, may explain the abnormal phenotype in undiagnosed cases. © 2018 The Authors Prenatal Diagnosis Published by John Wiley & Sons Ltd. PMID: 30187503


Taiwan J Obstet Gynecol. 2017 Oct;56(5):691-693. doi: 10.1016/j.tjog.2017.09.001. Application of non-invasive prenatal testing in late gestation in a pregnancy associated with intrauterine growth restriction and trisomy 22 confined placental mosaicism. Chen CP1, Tsai C2, Lin MH3, Chern SR4, Chen SW3, Lai ST3, Chen WL3, Pan CW3, Wang W5. Author information Abstract OBJECTIVE: We present the application of non-invasive prenatal testing (NIPT) in late gestation in a pregnancy associated with intrauterine growth restriction (IUGR) and trisomy 22 confined placental mosaicism (CPM). CASE REPORT: A 35-year-old pregnant woman underwent chorionic villus sampling (CVS) at 12 weeks of gestation. The pregnancy was conceived by in vitro fertilization and intracytoplasmic sperm injection. CVS revealed a karyotype of 47,XY,+22 in all of 15 cultured chorionic villi cells. Array comparative genomic hybridization analysis on uncultured chorionic villi revealed a result consistent with trisomy 22. The woman underwent amniocentesis at 17 weeks of gestation. Amniocentesis revealed a karyotype of 46,XY in all 20 colonies of cultured amniocytes. Additional polymorphic DNA marker analysis excluded uniparental disomy 22. The parental karyotypes were normal. Prenatal ultrasound at 23 weeks of gestation revealed fetal retrognathia, IUGR and a calcified placenta. NIPT at 27 weeks of gestation using maternal plasma cell-free DNA analysis showed a chromosome Z-score of 5.74 for chromosome 22 (the Z-score for each pair of chromosomes is defined as "increased" if >3), indicating an abnormal placenta with trisomy 22 CPM leading to IUGR in the fetus. At 36 weeks of gestation, a 1754-g male fetus was delivered with cleft palate and imperforate anus but no other phenotypic abnormalities. The cord blood had a karyotype of 46,XY (40/40 cells), the umbilical cord had a karyotype of 47,XY,+22[9]/46,XY[31], and the placental tissues had a karyotype of 47,XY,+22[15]/46,XY[25]. CONCLUSION: NIPT in late gestation is useful in detection of placental abnormality associated with CPM and IUGR but a normal karyotype at amniocentesis. Copyright © 2017. Published by Elsevier B.V. KEYWORDS: Confined placental mosaicism; Intrauterine growth restriction; NIPT; Non-invasive prenatal testing; Trisomy 22 PMID: 29037560 DOI: 10.1016/j.tjog.2017.09.001


BMJ Case Rep. 2016 Jan 21;2016. pii: bcr2015211380. doi: 10.1136/bcr-2015-211380. Hepatoblastoma in a mosaic trisomy 18 child with hemihypertrophy. Ahmad N1, Wheeler K1, Stewart H2, Campbell C2. Author information Abstract To date, there are 12 reported cases of hepatoblastoma in trisomy 18 patients, three of whom had a mosaic chromosome pattern. We report on an 18-month-old child who had hemihypertrophy and developmental delay, was found to have hepatoblastoma on surveillance ultrasound scan, and was subsequently diagnosed with mosaic trisomy 18 on array comparative genomic hybridisation from a peripheral blood sample and molecular cytogenetic analysis of the tumour specimen. Although hemihypertrophy has been associated with mosaic trisomies, there are only a couple of published case reports of hemihypertrophy or asymmetry in mosaic trisomy 18 patients and none in the reported cases of hepatoblastoma in a mosaic trisomy 18 setting. We have reviewed the published case reports of hepatoblastoma in trisomy 18 patients and found that they seem to tolerate the intensive treatment very well if there are no significant comorbidities. 2016 BMJ Publishing Group Ltd. PMID: 26795740