Prenatal diagnosis of a 4.5-Mb deletion at chromosome 4q35.1q35.2: Case report and literature review

Abstract Objective We present a genetic analysis of an asymptomatic family with a 4q terminal deletion; we also review other similar published studies and discuss the genotype–phenotype correlation. Methods A karyotype analysis was performed on the amniotic fluid cells of a woman at 24 weeks of preg...

Descripción completa

Guardado en:

Detalles Bibliográficos
Autores principales:	Gefei Xiao, Xianrong Qiu, Yuqiu Zhou, Gongjun Tan, Yao Shen
Formato:	article
Lenguaje:	EN
Publicado:	BMC 2021
Materias:	Karyotype analysis Prenatal diagnosis Chromosome microarray analysis Copy number variation Genetics QH426-470
Acceso en línea:	https://doaj.org/article/586628c600644e1badbde3570e5a1f05
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

id	oai:doaj.org-article:586628c600644e1badbde3570e5a1f05
record_format	dspace
spelling	oai:doaj.org-article:586628c600644e1badbde3570e5a1f052021-11-21T12:03:40ZPrenatal diagnosis of a 4.5-Mb deletion at chromosome 4q35.1q35.2: Case report and literature review10.1186/s13039-021-00573-y1755-8166https://doaj.org/article/586628c600644e1badbde3570e5a1f052021-11-01T00:00:00Zhttps://doi.org/10.1186/s13039-021-00573-yhttps://doaj.org/toc/1755-8166Abstract Objective We present a genetic analysis of an asymptomatic family with a 4q terminal deletion; we also review other similar published studies and discuss the genotype–phenotype correlation. Methods A karyotype analysis was performed on the amniotic fluid cells of a woman at 24 weeks of pregnancy and peripheral blood lymphocytes from both parents and their older son with the conventional G-banding technique. Chromosomal microarray analysis (CMA) testing was carried out for both parents and the fetus to analyze copy number variation (CNV) in the whole genome. Results The results showed no abnormalities in the karyotypes of the father and older son, and the karyotypes of the mother and fetus were 46,XX,del(4)(q35.1) and 46,XY,del(4)(q35.1), respectively. CMA results showed a partial deletion at the 4q terminus in both the fetus and mother. The deletion region of the fetus was arr[GRCh37] 4q35.1q35.2(186,431,008_190,957,460) × 1; the loss size of the CNV was approximately 4.5 Mb and involved 14 protein-coding genes, namely, CYP4V2, F11, FAM149A, FAT1, FRG1, FRG2, KLKB1, MTNR1A, PDLIM3, SORBS2, TLR3, TRIML1, TRIML2, and ZFP42. No variation on chromosome 4 was detected in the father’s CMA results. Conclusion Deletion of the 4q subtelomeric region is a familial variation. The arr[GRCh37] 4q35.1q35.2(186,431,008_190,957,460) region single-copy deletion did not cause obvious congenital defects or mental retardation. The application of high-resolution genetic testing technology combined with the analysis of public genetic database information can more clearly elucidate the genotype–phenotype correlation of the disease and provide support for both prenatal and postnatal genetic counseling.Gefei XiaoXianrong QiuYuqiu ZhouGongjun TanYao ShenBMCarticleKaryotype analysisPrenatal diagnosisChromosome microarray analysisCopy number variationGeneticsQH426-470ENMolecular Cytogenetics, Vol 14, Iss 1, Pp 1-6 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Karyotype analysis Prenatal diagnosis Chromosome microarray analysis Copy number variation Genetics QH426-470
spellingShingle	Karyotype analysis Prenatal diagnosis Chromosome microarray analysis Copy number variation Genetics QH426-470 Gefei Xiao Xianrong Qiu Yuqiu Zhou Gongjun Tan Yao Shen Prenatal diagnosis of a 4.5-Mb deletion at chromosome 4q35.1q35.2: Case report and literature review
description	Abstract Objective We present a genetic analysis of an asymptomatic family with a 4q terminal deletion; we also review other similar published studies and discuss the genotype–phenotype correlation. Methods A karyotype analysis was performed on the amniotic fluid cells of a woman at 24 weeks of pregnancy and peripheral blood lymphocytes from both parents and their older son with the conventional G-banding technique. Chromosomal microarray analysis (CMA) testing was carried out for both parents and the fetus to analyze copy number variation (CNV) in the whole genome. Results The results showed no abnormalities in the karyotypes of the father and older son, and the karyotypes of the mother and fetus were 46,XX,del(4)(q35.1) and 46,XY,del(4)(q35.1), respectively. CMA results showed a partial deletion at the 4q terminus in both the fetus and mother. The deletion region of the fetus was arr[GRCh37] 4q35.1q35.2(186,431,008_190,957,460) × 1; the loss size of the CNV was approximately 4.5 Mb and involved 14 protein-coding genes, namely, CYP4V2, F11, FAM149A, FAT1, FRG1, FRG2, KLKB1, MTNR1A, PDLIM3, SORBS2, TLR3, TRIML1, TRIML2, and ZFP42. No variation on chromosome 4 was detected in the father’s CMA results. Conclusion Deletion of the 4q subtelomeric region is a familial variation. The arr[GRCh37] 4q35.1q35.2(186,431,008_190,957,460) region single-copy deletion did not cause obvious congenital defects or mental retardation. The application of high-resolution genetic testing technology combined with the analysis of public genetic database information can more clearly elucidate the genotype–phenotype correlation of the disease and provide support for both prenatal and postnatal genetic counseling.
format	article
author	Gefei Xiao Xianrong Qiu Yuqiu Zhou Gongjun Tan Yao Shen
author_facet	Gefei Xiao Xianrong Qiu Yuqiu Zhou Gongjun Tan Yao Shen
author_sort	Gefei Xiao
title	Prenatal diagnosis of a 4.5-Mb deletion at chromosome 4q35.1q35.2: Case report and literature review
title_short	Prenatal diagnosis of a 4.5-Mb deletion at chromosome 4q35.1q35.2: Case report and literature review
title_full	Prenatal diagnosis of a 4.5-Mb deletion at chromosome 4q35.1q35.2: Case report and literature review
title_fullStr	Prenatal diagnosis of a 4.5-Mb deletion at chromosome 4q35.1q35.2: Case report and literature review
title_full_unstemmed	Prenatal diagnosis of a 4.5-Mb deletion at chromosome 4q35.1q35.2: Case report and literature review
title_sort	prenatal diagnosis of a 4.5-mb deletion at chromosome 4q35.1q35.2: case report and literature review
publisher	BMC
publishDate	2021
url	https://doaj.org/article/586628c600644e1badbde3570e5a1f05
work_keys_str_mv	AT gefeixiao prenataldiagnosisofa45mbdeletionatchromosome4q351q352casereportandliteraturereview AT xianrongqiu prenataldiagnosisofa45mbdeletionatchromosome4q351q352casereportandliteraturereview AT yuqiuzhou prenataldiagnosisofa45mbdeletionatchromosome4q351q352casereportandliteraturereview AT gongjuntan prenataldiagnosisofa45mbdeletionatchromosome4q351q352casereportandliteraturereview AT yaoshen prenataldiagnosisofa45mbdeletionatchromosome4q351q352casereportandliteraturereview
_version_	1718419246360297472

Prenatal diagnosis of a 4.5-Mb deletion at chromosome 4q35.1q35.2: Case report and literature review

Ejemplares similares