Prenatal Diagnosis of Recurrent Distal 1q21.1 Duplication in Three Fetuses With Ultrasound Anomalies

Ji, Xiuqing; Pan, Qiong; Wang, Yan; Wu, Yun; Zhou, Jing; Liu, An; Qiao, Fengxiang; Ma, Dong‐Lai; Hu, Ping; Xu, Zhengfeng

doi:10.3389/fgene.2018.00275

Cited by 7 publications

(17 citation statements)

References 25 publications

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“…Ji et al. reported three foetuses with 1q21.1 duplication and found two with NB loss, indicating absent foetal NB may be related to 1q21.1 duplication [ 23 ]. Zhang et al.…”

Section: Discussionmentioning

confidence: 99%

Prenatal chromosomal microarray analysis in foetuses with isolated absent or hypoplastic nasal bone

Shi

Lü

et al. 2022

Annals of Medicine

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Objectives To evaluate the efficiency of chromosomal microarray analysis (CMA) in the prenatal diagnosis of foetuses with isolated absent or hypoplastic nasal bone (NB) in the first and second trimester. Methods From January 2015 to April 2021, foetuses with isolated absent or hypoplastic NB who received invasive prenatal diagnosis were enrolled. The results of CMA were analysed Results There were 221 foetuses, including 166 cases with isolated absent NB and 55 cases with isolated hypoplastic NB. Twenty-four foetuses (10.9%, 24/221) had an ultrasonic diagnosis in the first trimester and 197 (89.1%, 197/221) had a ultrasonic diagnosis in the second trimester. The overall diagnostic yield of CMA was 9.0% (20/221). Aneuploidies were detected in 13 (5.9%, 13/221) foetuses, including 10 Down syndrome, 2 Klinefelter's syndrome and 1 trisomy 18. Pathogenic copy number variations (CNVs) were detected in seven foetuses (3.2%, 7/221). In addition, variants of unknown significance (VOUS) were detected in four foetuses. The foetuses with isolated absent NB had a higher detection rate of chromosome abnormality than the isolated hypoplastic NB, but the difference was not significant in the statistical analysis (10.2% vs. 5.5%, χ 2 =0.642, p = .423). No significant difference was observed in the detection rate between the first trimester and the second trimester (16.6% vs. 8.1%, χ 2 = 1.002, p = .317, Chi-square test). Conclusion CMA can increase the diagnostic yield of chromosome abnormality, especially pathogenic CNVs for foetuses with isolated absent or hypoplastic NB. CMA should be recommended when isolated absent or hypoplastic NB is suspected antenatally.7

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“…Ji et al. reported three foetuses with 1q21.1 duplication and found two with NB loss, indicating absent foetal NB may be related to 1q21.1 duplication [ 23 ]. Zhang et al.…”

Section: Discussionmentioning

confidence: 99%

Prenatal chromosomal microarray analysis in foetuses with isolated absent or hypoplastic nasal bone

Shi

Lü

et al. 2022

Annals of Medicine

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“…[ 11 ] Two distinctive regions are included in the chromosomal 1q21.1 region: the proximal region which extends from breakpoints (BPs) 2 to BP3 spans about 0.2 Mb (chr1: 145.4–145.6 Mb, GRCh37/hg19) and distal region which extends from BP3 to BP4 spans about 1.35 Mb (chr1: 146.5–147.9 Mb, GRCh37/h19). [ 12 , 13 ]…”

Section: Discussionmentioning

confidence: 99%

“…To better characterize the genotype–karyotype correlations of distal 1q21.1 microduplication, we summarized the clinical manifestations of prenatal/postnatal cases involving similar 1q21.1 duplication with our cases according to literature review (Table 1 ). [ 12 – 20 ] Meanwhile, we also made a direct comparison focusing on these cases encompassing similar 1q21.1q21.2 duplication (Fig. 1 ).…”

Section: Discussionmentioning

confidence: 99%

“…High expression of CHD1L can be observed in different brain regions, especially in the cerebellum. [ 16 , 19 ] Dou et al [ 12 ] assumed that CHD1L can promote neuronal differentiation in human embryonic cells and affect nervous system development. In addition, overexpression of CHD1L was closely associated with patients with TOF, double outlet right ventricle, and pulmonary artery stenosis.…”

Section: Discussionmentioning

confidence: 99%

“…High diversity inter- and intrafamilial outcomes have been discovered among the members sharing the same 1q21.1 duplication, ranging from normal phenotypes to severe anomalies. [ 12 ] The occurrence of a parent carrying 1q21.1 duplication without evident phenotypes makes it intractable to assess the clinic significance for offsprings with the same chromosomal duplication. [ 7 ] In our study, case 2 inherited 1q21.1q21.2 duplication from his normally phenotypic father.…”

Section: Discussionmentioning

confidence: 99%

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Prenatal detection of distal 1q21.1q21.2 microduplication with abnormal ultrasound findings

et al. 2021

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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.

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Phenotypic and genotypic characterization of 1q21.1 copy number variants: A report of 34 new individuals and literature review

Bourgois,

Bizaoui,

Colson

et al. 2023

American J of Med Genetics Pt A

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Recurrent 1q21.1 copy number variants (CNVs) have been associated with a wide spectrum of clinical features, ranging from normal phenotype to moderate intellectual disability, with congenital anomalies and dysmorphic features. They are often inherited from unaffected parents and the pathogenicity is difficult to assess. We describe the phenotypic and genotypic data for 34 probands carrying CNVs in the 1q21.1 chromosome region (24 duplications, 8 deletions and 2 triplications). We also reviewed 89 duplications, 114 deletions and 5 triplications described in the literature, at variable 1q21.1 locations. We aimed to identify the most highly associated clinical features to determine the phenotypic expression in affected individuals. Developmental delay or learning disabilities and neuropsychiatric disorders were common in patients with deletions, duplications and triplications of 1q21.1. Mild dysmorphic features common in these CNVs include a prominent forehead, widely spaced eyes and a broad nose. The CNVs were mostly inherited from apparently unaffected parents. Almost half of the CNVs were distal, overlapping with a common minimal region of 1.2 Mb. We delineated the clinical implications of 1q21.1 CNVs and confirmed that these CNVs are likely pathogenic, although subject to incomplete penetrance and variable expressivity. Long‐term follow‐up should be performed to each newly diagnosed case, and prenatal genetic counseling cautiously discussed, as it remains difficult to predict the phenotype in the event of an antenatal diagnosis.

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Prenatal Diagnosis of Recurrent Distal 1q21.1 Duplication in Three Fetuses With Ultrasound Anomalies

Cited by 7 publications

References 25 publications

Prenatal chromosomal microarray analysis in foetuses with isolated absent or hypoplastic nasal bone

Prenatal chromosomal microarray analysis in foetuses with isolated absent or hypoplastic nasal bone

Prenatal detection of distal 1q21.1q21.2 microduplication with abnormal ultrasound findings

Phenotypic and genotypic characterization of 1q21.1 copy number variants: A report of 34 new individuals and literature review

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