Prenatal diagnosis of pure 1p36 terminal deletion by chromosome microarry analysis — clinical report of 3 new cases and review of the literature
Abstract
Objectives: Our objective was to present the experience on prenatal diagnosis of 1p36 terminal deletion, and further delineated the fetal presentation of the syndrome.
Material and methods: This was a retrospective analysis of three new prenatal cases with pure 1p36 terminal deletion detected by chromosome microarray analysis (CMA) at a single Chinese medical center. We also reviewed 11 published prenatal cases with similar deletion sizes. Clinical data of all cases including indications for invasive testing, sonographic findings, maternal factors, and pregnancy outcomes were reviewed and analyzed.
Results: Three new cases with pure 1p36 terminal deletion were prenatal diagnosed by CMA, the sizes of the deletion were 1.3 Mb, 5.0 Mb, and 4.9 Mb respectively. All cases were detected because of abnormal ultrasound findings, including central nervous system (CNS) abnormalities, congenital heart disease (CHD) and fetal growth restriction. Two pregnancies were terminated, and one was live-born but died three months after birth.
Conclusions: The 1p36 terminal deletion results in many clinical manifestations, but the specificity of clinical features are not high. Prenatal sonographic findings such as CNS, CHD may act as suggestive signs of 1p36 deletion or other microdeletion/duplication syndromes.
Keywords: prenatal diagnosis1p36 terminal deletionchromosomal microarray analysisprenatal ultrasound findings
References
- Jordan VK, Zaveri HP, Scott DA. 1p36 deletion syndrome: an update. Appl Clin Genet. 2015; 8: 189–200.
- Guterman S, Beneteau C, Redon S, et al. Prenatal findings in 1p36 deletion syndrome: New cases and a literature review. Prenat Diagn. 2019; 39(10): 871–882.
- Greco M, Ferrara P, Farello G, et al. Electroclinical features of epilepsy associated with 1p36 deletion syndrome: A review. Epilepsy Res. 2018; 139: 92–101.
- Shimada S, Shimojima K, Okamoto N, et al. Microarray analysis of 50 patients reveals the critical chromosomal regions responsible for 1p36 deletion syndrome-related complications. Brain Dev. 2015; 37(5): 515–526.
- Toshimitsu M, Nagaoka S, Kobori S, et al. Exome-first approach in fetal akinesia reveals chromosome 1p36 deletion syndrome. Case Rep Obstet Gynecol. 2019; 2019: 6753184.
- Zhang Z, Wang J, Li N, et al. Cutis laxa in a patient with 1p36 deletion syndrome. J Dermatol. 2018; 45(7): 871–873.
- Chawla V, Anagnost MR, Eldemerdash AE, et al. A novel case of biliary atresia in a premature neonate with 1p36 deletion syndrome. J Investig Med High Impact Case Rep. 2018; 6: 2324709618790613.
- Hu T, Zhang Z, Wang J, et al. Prenatal diagnosis of chromosomal aberrations by chromosomal microarray analysis in fetuses with ultrasound anomalies in the urinary system. Prenat Diagn. 2019; 39(12): 1096–1106.
- Song T, Wan S, Li Yu, et al. Detection of copy number variants using chromosomal microarray analysis for the prenatal diagnosis of congenital heart defects with normal karyotype. J Clin Lab Anal. 2019; 33(1): e22630.
- Guterman S, Beneteau C, Redon S, et al. Prenatal findings in 1p36 deletion syndrome: New cases and a literature review. Prenat Diagn. 2019; 39(10): 871–882.
- Zhang X, He P, Han J, et al. Prenatal detection of 1p36 deletion syndrome: ultrasound findings and microarray testing results. J Matern Fetal Neonatal Med. 2021; 34(13): 2180–2184.
- Campeau PM, Ah Mew N, Cartier L, et al. Prenatal diagnosis of monosomy 1p36: a focus on brain abnormalities and a review of the literature. Am J Med Genet A. 2008; 146A(23): 3062–3069.
- Chang Q, Yang Y, Peng Y, et al. Prenatal detection of chromosomal abnormalities and copy number variants in fetuses with ventriculomegaly. Eur J Paediatr Neurol. 2020; 25: 106–112.
- Fu F, Deng Q, Lei TY, et al. Clinical application of SNP array analysis in fetuses with ventricular septal defects and normal karyotypes. Arch Gynecol Obstet. 2017; 296(5): 929–940.
- Battaglia A, Hoyme HE, Dallapiccola B, et al. Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation. Pediatrics. 2008; 121(2): 404–410.
- Digilio MC, Bernardini L, Lepri F, et al. Ebstein anomaly: Genetic heterogeneity and association with microdeletions 1p36 and 8p23.1. Am J Med Genet A. 2011; 155A(9): 2196–2202.
- Hertz JM, Gregory-Evans CY, Moosajee M, et al. Translocation breakpoint maps 5 kb 3' from TWIST in a patient affected with Saethre-Chotzen syndrome. Hum Mol Genet. 1997; 6(7): 1079–1086.
- Hemati P, Revah-Politi A, Bassan H, et al. C4RCD Research Group, DDD study. Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature. Am J Med Genet A. 2018; 176(11): 2259–2275.
- Sentex E, Wang Xi, Liu X, et al. Expression of protein kinase C isoforms in cardiac hypertrophy and heart failure due to volume overload. Can J Physiol Pharmacol. 2006; 84(2): 227–238.
- Wu SC, Solaro RJ. Protein kinase C zeta. A novel regulator of both phosphorylation and de-phosphorylation of cardiac sarcomeric proteins. J Biol Chem. 2007; 282(42): 30691–30698.
- Gilsoul M, Grisar T, Delgado-Escueta AV, et al. Subtle brain developmental abnormalities in the pathogenesis of juvenile myoclonic epilepsy. Front Cell Neurosci. 2019; 13: 433.
- Rosenfeld JA, Crolla JA, Tomkins S, et al. Refinement of causative genes in monosomy 1p36 through clinical and molecular cytogenetic characterization of small interstitial deletions. Am J Med Genet A. 2010; 152A(8): 1951–1959.
