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Tytuł pozycji:

Prenatal detection of distal 1q21.1q21.2 microduplication with abnormal ultrasound findings: Two cases report and literature review.

Tytuł:
Prenatal detection of distal 1q21.1q21.2 microduplication with abnormal ultrasound findings: Two cases report and literature review.
Autorzy:
Zhang H; Center for Reproductive Medicine, Center for Prenatal Diagnosis, First Hospital.; Jilin Engineering Research Center for Reproductive Medicine and Genetics, Jilin University, Changchun, China.
Yue F; Center for Reproductive Medicine, Center for Prenatal Diagnosis, First Hospital.; Jilin Engineering Research Center for Reproductive Medicine and Genetics, Jilin University, Changchun, China.
Zhang X; Center for Reproductive Medicine, Center for Prenatal Diagnosis, First Hospital.; Jilin Engineering Research Center for Reproductive Medicine and Genetics, Jilin University, Changchun, China.
He J; Center for Reproductive Medicine, Center for Prenatal Diagnosis, First Hospital.; Jilin Engineering Research Center for Reproductive Medicine and Genetics, Jilin University, Changchun, China.
Jiang Y; Center for Reproductive Medicine, Center for Prenatal Diagnosis, First Hospital.; Jilin Engineering Research Center for Reproductive Medicine and Genetics, Jilin University, Changchun, China.
Liu R; Center for Reproductive Medicine, Center for Prenatal Diagnosis, First Hospital.; Jilin Engineering Research Center for Reproductive Medicine and Genetics, Jilin University, Changchun, China.
Yu Y; Center for Reproductive Medicine, Center for Prenatal Diagnosis, First Hospital.; Jilin Engineering Research Center for Reproductive Medicine and Genetics, Jilin University, Changchun, China.
Źródło:
Medicine [Medicine (Baltimore)] 2021 Jan 08; Vol. 100 (1), pp. e24227.
Typ publikacji:
Case Reports; Journal Article; Review
Język:
English
Imprint Name(s):
Original Publication: Hagerstown, Md : Lippincott Williams & Wilkins
MeSH Terms:
Chromosome Deletion*
Ultrasonography, Prenatal*
Heart Septal Defects, Ventricular/*diagnostic imaging
Abnormalities, Multiple ; Adult ; Female ; Genetic Counseling ; Heart Septal Defects, Ventricular/genetics ; Humans ; Infant, Newborn ; Male ; Pregnancy ; Pregnancy Trimester, Second ; Young Adult
References:
Lo JO, Shaffer BL, Feist CD, et al. Chromosomal microarray analysis and prenatal diagnosis. Obstet Gynecol Surv 2014;69:613–21.
Santos F, García-Miñaur S, García-Santiago F, et al. New microdeletion and microduplication syndromes: a comprehensive review. Genet Mol Biol 2014;37:210–9.
Girirajan S, Eichler EE. Phenotypic variability and genetic susceptibility to genomic disorders. Hum Mol Genet 2010;19:R176–87.
Levy B, Wapner R. Prenatal diagnosis by chromosomal microarray analysis. Fertil Steril 2018;109:201–12.
Harvard C, Strong E, Mercier E, et al. Understanding the impact of 1q21.1 copy number variant. Orphanet J Rare Dis 2011;6:54.
Mefford HC, Sharp AJ, Baker C, et al. Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med 2008;359:1685–99.
Brunetti-Pierri N, Berg JS, Scaglia F, et al. Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat Genet 2008;40:1466–71.
McGowan-Jordan J, Simons A, Schmid M (eds)(2016) An international system for human cytogenomic nomenclature. S. Karger, Basel.[Reprint of Cytogenet Genome Res 149(1–2)].
Busè M, Cuttaia HC, Palazzo D, et al. Expanding the phenotype of reciprocal 1q21.1 deletions and duplications: a case series. Ital J Pediatr 2017;43:61.
Xavier J, Zhou B, Bilan F, et al. 1q21.1 microduplication: large verbal-nonverbal performance discrepancy and ddPCR assays of HYDIN/HYDIN2 copy number. NPJ Genom Med 2018;3:24.
Gillentine MA, Lupo PJ, Stankiewicz P, et al. An estimation of the prevalence of genomic disorders using chromosomal microarray data. J Hum Genet 2018;63:795–801.
Ji X, Pan Q, Wang Y, et al. Prenatal diagnosis of recurrent distal 1q21.1 duplication in three fetuses with ultrasound anomalies. Front Genet 2018;9:275.
Wang HD, Liu L, Wu D, et al. Clinical and molecular cytogenetic analyses of four families with 1q21.1 microdeletion or microduplication. J Gene Med 2017;19.
Liao C, Fu F, Yi CX, et al. Prenatal diagnosis of an atypical 1q21.1 microdeletion and duplication associated with foetal urogenital abnormalities. Gene 2012;507:92–4.
Verhagen JM, de Leeuw N, Papatsonis DN, et al. Phenotypic variability associated with a large recurrent 1q21.1 microduplication in a three-generation family. Mol Syndromol 2015;6:71–6.
Liu L, Wang HD, Cui CY, et al. Application of array-comparative genomic hybridization in tetralogy of Fallot. Medicine 2016;95:e5552.
Benítez-Burraco A, Barcos-Martínez M, Espejo-Portero I, et al. Narrowing the genetic causes of language dysfunction in the 1q21.1 microduplication syndrome. Front Pediatr 2018;6:163.
Matthews AM, Tarailo-Graovac M, Price EM, et al. A de novo mosaic mutation in SPAST with two novel alternative alleles and chromosomal copy number variant in a boy with spastic paraplegia and autism spectrum disorder. Eur J Med Genet 2017;60:548–52.
Gourari I, Schubert R, Prasad A. 1q21.1 Duplication syndrome and epilepsy: case report and review. Neurol Genet 2018;4:e219.
Vergult S, Hoogeboom AJ, Bijlsma EK, et al. Complex genetics of radial ray deficiencies: screening of a cohort of 54 patients. Genet Med 2013;15:195–202.
Lupski JR, Stankiewicz P. Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes. PLoS Genet 2005;1:e49.
Dolcetti A, Silversides CK, Marshall CR, et al. 1q21.1 Microduplication expression in adults. Genet Med 2013;15:282–9.
Silversides CK, Lionel AC, Costain G, et al. Rare copy number variations in adults with tetralogy of Fallot implicate novel risk gene pathways. PLoS Genet 2012;8:e1002843.
Guida V, Ferese R, Rocchetti M, et al. A variant in the carboxyl-terminus of connexin 40 alters GAP junctions and increases risk for tetralogy of Fallot. Eur J Hum Genet 2013;21:69–75.
Soemedi R, Topf A, Wilson IJ, et al. Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls. Hum Mol Genet 2012;21:1513–20.
Ni X, Valente J, Azevedo MH, et al. Connexin 50 gene on human chromosome 1q21 is associated with schizophrenia in matched case control and family-based studies. J Med Genet 2007;44:532–6.
Morano M, Zacharzowski U, Maier M, et al. Regulation of human heart contractility by essential myosin light chain isoforms. J Clin Invest 1996;98:467–73.
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Grant Information:
JLSCZD2019-022 the Finance Department Health Special Project of Jilin Province, China
Entry Date(s):
Date Created: 20210112 Date Completed: 20210122 Latest Revision: 20230103
Update Code:
20240105
PubMed Central ID:
PMC7793324
DOI:
10.1097/MD.0000000000024227
PMID:
33429818
Czasopismo naukowe
Rationale: 1q21.1 duplication is an uncommon chromosomal submicroscopic imbalance which is associated with growth/mental retardation, dysmorphic features, autism, multiple congenital and neuropsychiatric disorders.
Patient Concerns: Two pregnant women underwent amniocentesis for cytogenetic analysis and chromosomal microarray analysis (CMA) following abnormal ultrasound findings. Case 1 presented short nasal bone and case 2 showed absent nasal bone, ventricular septal defect and umbilical cord circling in ultrasonic examination.
Diagnoses: G-banding analysis showed that the two fetuses presented normal karyotypic results while CMA detected 1.796 Mb (case 1) and 1.242 Mb (case 2) microduplications in the region of 1q21.1q21.2 separately. Furthermore, the CMA also revealed a 1.2 Mb microdeletion of 8p23.3 in case 1.
Interventions: The couple in case 1 chose to terminate the pregnancy, while the couple in case 2 continued the pregnancy and finally delivered a male infant who presented low nasal bridge and ventricular septal defect.
Outcomes: The 1q21.1q21.2 duplications in our report were located in the distal 1q21.1 region, overlapping with 1q21.1 duplication syndrome. Case 2 was the first reported live birth with 1q21.1 duplication according to prenatal CMA detection in China.
Lessons: The genotype-phenotype of 1q21.1 duplication is complicated due to the phenotypic diversity, incomplete penetrance, and lack of obvious characteristics. So it is difficult to predict the postnatal development and health conditions clinically. Hence, long term follow up is necessary for newborn infants with 1q21.1 duplication, irrespective of whether the duplication is de novo or inherited.
Competing Interests: The authors have no conflicts of interest to disclose.
(Copyright © 2021 the Author(s). Published by Wolters Kluwer Health, Inc.)

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