Prenatal ultrasound phenotype of fetuses with recurrent 1q21.1 deletion and duplication syndrome

ObjectiveOur study aimed to collect fetuses with recurrent 1q21.1 deletion or duplication syndrome for systematic clinical phenotype analysis to further delineate the intrauterine phenotype features of the two reciprocal syndromes.MethodsPrenatal samples, including amniotic fluid and chorionic villu...

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Main Authors: Fengyang Wang, Huijuan Peng, Guiyu Lou, Yanxin Ren, Shixiu Liao
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-01-01
Series:Frontiers in Pediatrics
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Online Access:https://www.frontiersin.org/articles/10.3389/fped.2024.1504122/full
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author Fengyang Wang
Huijuan Peng
Guiyu Lou
Yanxin Ren
Shixiu Liao
author_facet Fengyang Wang
Huijuan Peng
Guiyu Lou
Yanxin Ren
Shixiu Liao
author_sort Fengyang Wang
collection DOAJ
description ObjectiveOur study aimed to collect fetuses with recurrent 1q21.1 deletion or duplication syndrome for systematic clinical phenotype analysis to further delineate the intrauterine phenotype features of the two reciprocal syndromes.MethodsPrenatal samples, including amniotic fluid and chorionic villus samples, were obtained by amniocentesis and chorionic villus sampling at our center, respectively. In total, 43 fetuses were diagnosed with recurrent 1q21.1 deletion or duplication syndrome via array comparative genomic hybridization (array CGH) or copy number variation sequencing (CNV-seq). Prenatal clinical data, pregnancy outcomes, and individual conditions after birth were collected.ResultsIn total, 20 fetuses were diagnosed with 1q21.1 deletion syndrome, and 11 had abnormal ultrasound findings. The most common ultrasound features were renal anomalies, musculoskeletal abnormalities, and increased NT. Other less common ultrasound findings encompassed neurologic abnormalities, cardiovascular defects, absence of the gallbladder, intrauterine growth retardation, and cervical cystic hygroma. On the other hand, 23 fetuses had reciprocal 1q21.1 duplication syndrome, 11 of which had abnormal ultrasound findings, mainly nasal bone abnormalities, cardiovascular defects, increased NT, and neurologic abnormalities.ConclusionsOur case study suggested that the prenatal clinical phenotypes of the recurrent 1q21.1 deletion syndrome and reciprocal duplication syndrome fetuses were highly diverse with incomplete penetrance. Additionally, our findings should expand the intrauterine phenotype associated with the recurrent 1q21.1 region by a series of prenatal ultrasonic anomalies in this work that were described for the first time, which might broaden knowledge of the genotype and phenotype correlation.
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spelling doaj-art-5a83ee43cfbc4f0b89aaf2aa02f7ab352025-01-07T06:50:36ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602025-01-011210.3389/fped.2024.15041221504122Prenatal ultrasound phenotype of fetuses with recurrent 1q21.1 deletion and duplication syndromeFengyang Wang0Huijuan Peng1Guiyu Lou2Yanxin Ren3Shixiu Liao4Henan Provincial Institute of Medical Genetics, Henan Provincial People’s Hospital, People’s Hospital of Zhengzhou University, Zhengzhou, ChinaDepartment of Ultrasonography, Henan Provincial People’s Hospital, People’s Hospital of Zhengzhou University, Zhengzhou, ChinaHenan Provincial Institute of Medical Genetics, Henan Provincial People’s Hospital, People’s Hospital of Zhengzhou University, Zhengzhou, ChinaHenan Provincial Institute of Medical Genetics, Henan Provincial People’s Hospital, People’s Hospital of Zhengzhou University, Zhengzhou, ChinaHenan Provincial Institute of Medical Genetics, Henan Provincial People’s Hospital, People’s Hospital of Zhengzhou University, Zhengzhou, ChinaObjectiveOur study aimed to collect fetuses with recurrent 1q21.1 deletion or duplication syndrome for systematic clinical phenotype analysis to further delineate the intrauterine phenotype features of the two reciprocal syndromes.MethodsPrenatal samples, including amniotic fluid and chorionic villus samples, were obtained by amniocentesis and chorionic villus sampling at our center, respectively. In total, 43 fetuses were diagnosed with recurrent 1q21.1 deletion or duplication syndrome via array comparative genomic hybridization (array CGH) or copy number variation sequencing (CNV-seq). Prenatal clinical data, pregnancy outcomes, and individual conditions after birth were collected.ResultsIn total, 20 fetuses were diagnosed with 1q21.1 deletion syndrome, and 11 had abnormal ultrasound findings. The most common ultrasound features were renal anomalies, musculoskeletal abnormalities, and increased NT. Other less common ultrasound findings encompassed neurologic abnormalities, cardiovascular defects, absence of the gallbladder, intrauterine growth retardation, and cervical cystic hygroma. On the other hand, 23 fetuses had reciprocal 1q21.1 duplication syndrome, 11 of which had abnormal ultrasound findings, mainly nasal bone abnormalities, cardiovascular defects, increased NT, and neurologic abnormalities.ConclusionsOur case study suggested that the prenatal clinical phenotypes of the recurrent 1q21.1 deletion syndrome and reciprocal duplication syndrome fetuses were highly diverse with incomplete penetrance. Additionally, our findings should expand the intrauterine phenotype associated with the recurrent 1q21.1 region by a series of prenatal ultrasonic anomalies in this work that were described for the first time, which might broaden knowledge of the genotype and phenotype correlation.https://www.frontiersin.org/articles/10.3389/fped.2024.1504122/full1q21.1 deletion syndrome1q21.1 duplication syndromeprenatal ultrasound phenotypearray CGHCNV-seq
spellingShingle Fengyang Wang
Huijuan Peng
Guiyu Lou
Yanxin Ren
Shixiu Liao
Prenatal ultrasound phenotype of fetuses with recurrent 1q21.1 deletion and duplication syndrome
Frontiers in Pediatrics
1q21.1 deletion syndrome
1q21.1 duplication syndrome
prenatal ultrasound phenotype
array CGH
CNV-seq
title Prenatal ultrasound phenotype of fetuses with recurrent 1q21.1 deletion and duplication syndrome
title_full Prenatal ultrasound phenotype of fetuses with recurrent 1q21.1 deletion and duplication syndrome
title_fullStr Prenatal ultrasound phenotype of fetuses with recurrent 1q21.1 deletion and duplication syndrome
title_full_unstemmed Prenatal ultrasound phenotype of fetuses with recurrent 1q21.1 deletion and duplication syndrome
title_short Prenatal ultrasound phenotype of fetuses with recurrent 1q21.1 deletion and duplication syndrome
title_sort prenatal ultrasound phenotype of fetuses with recurrent 1q21 1 deletion and duplication syndrome
topic 1q21.1 deletion syndrome
1q21.1 duplication syndrome
prenatal ultrasound phenotype
array CGH
CNV-seq
url https://www.frontiersin.org/articles/10.3389/fped.2024.1504122/full
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