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Genetic etiology and phenotypic characteristics of fetuses with 11q deletion syndrome (11q23.3‑q25)

  • Authors:
    • Tong Zhang
    • Xiaoyi Cong
    • Zhenming Li
    • Xianzhen Cao
    • Liang Hu
    • Xiaojin Luo
    • Yanan Liu
    • Weiqiang Liu
    • Fengxiang Wei
  • View Affiliations / Copyright

    Affiliations: Central Laboratory (Genetics Laboratory), Longgang District Maternity and Child Healthcare Hospital of Shenzhen City [Affiliated Shenzhen Women and Children's Hospital (Longgang) of Shantou University Medical College], Shenzhen, Guangdong 518172, P.R. China
    Copyright: © Zhang et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Article Number: 185
    |
    Published online on: May 8, 2026
       https://doi.org/10.3892/etm.2026.13180
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Abstract

The 11q deletion (11q‑) syndrome is a rare consecutive polygenic deletion disorder. Characterization of the clinical features, genetic etiology and diagnostic strategies associated with 11q deletion syndrome in the prenatal setting is important to understand this syndrome in its entirety. A retrospective review at Longgang District Maternity & Child Healthcare Hospital of Shenzhen City (Shenzhen, China) involving four fetuses diagnosed with 11q‑ syndrome was conducted to examine the clinical features of this syndrome. The cases were identified through prenatal screening, including maternal serum biochemistry, non‑invasive prenatal screening (NIPS), chromosomal microarray analysis (CMA) and karyotyping. Pregnant women with high‑risk results from NIPS or prenatal serological screening received early interventional prenatal diagnosis and genetic counseling. Of the two cases that showed a high‑risk of 11q‑ by NIPS, invasive diagnostic procedures confirmed the presence of large terminal deletions on chromosome 11q, encompassing telomeric regions. CMA identified the deletions while karyotyping revealed underlying structural rearrangements, including balanced translocations in both cases. Prenatal ultrasound identified cardiac anomalies, such as ventricular septal defects and truncus arteriosus. The variability and incomplete penetrance of these malformations suggest the influence of polygenic (e.g., modifier genes, genetic background, copy number variations), epigenetic (e.g., DNA methylation, histone modification) and environmental factors (e.g., diet, lifestyle, exposure to toxins). The results demonstrated that the phenotypic expression of 11q‑ syndrome varies according to the size and gene content of the deleted region. The integration of CMA and karyotyping improves diagnostic accuracy and elucidates the origin of chromosomal alterations. In the single case present in the current study that involved a parental chromosomal translocation, karyotyping was essential for determining the risk of recurrence. These findings contribute to a more precise understanding of genotype‑phenotype associations and support the provision of informed prenatal counseling and the clinical management of 11q‑ syndrome.
View Figures

Figure 1

Non-invasive prenatal screening
results indicating copy number variations at chromosome 11q. (A)
Case 1: A 7.98 Mb deletion at 11q24.2 is highlighted by the red
box. (B) Case 2: The red box indicates a 13.54 Mb deletion at
11q24.1. Blue boxes indicate a 5.12 Mb duplication and a 10.27 Mb
duplication at 11q21 and 11q23.1, respectively. Each point
represents a 50 Kb region. Black points represents normal copy
number. Red points represents CNVs. Red frame represents deletion
region. Blue frame represents duplication region. CNV, copy number
variation; Mb, megabases.

Figure 2

Chromosomal microarray analysis
detection of pathogenic CNVs. (A) Case 1: A 7.924 Mb heterozygous
deletion at 11q24.2 was detected, the specific location of which
was 11q24.2q25(127,013,810-134,937,416) based on GRCh37. (B) Case
2: A 13.402 Mb pathogenic deletion at 11q24.1 was detected, the
specific location of which was 11q24.1q25(121,536,011-134,938,470)
based on GRCh37. (C) Case 3: Two pathogenic CNVs were detected, a
14.781 Mb deletion at 11q23.33q25(120,157,168-134,938,470) and a
13.728 Mb duplication at 16q23.1q24.3(76,426,996-90,155,062). (D)
Case 4: Two pathogenic CNVs were detected, a 44.549 Mb duplication
at 15q21.3q26.3(57,879,724-102,429,040) and a 14.638 Mb deletion at
11q23.3q25(120,299,416-134,937,416). Red frame represents deletion
region. Blue frame represents duplication region. CNV, copy number
variation; GRCh37, Genome Reference Consortium Human Build 37; Mb,
megabases.

Figure 3

Abnormal ultrasound results of the
fetuses with 11q syndrome. (A) Case 2 four-chamber view ultrasound
result indicated a continuous interruption of the ventricular
septum. (B) Case 2 two-dimensional ultrasound result indicated a
single arterial trunk. (C) Case 2 three-vessel cross-sectional
ultrasound result indicated the presence of a large artery. (D)
Case 4 ultrasound results indicated thickening of the NT. NT,
nuchal translucency.

Figure 4

Karyotyping results from amniotic
fluid cells and parent' peripheral blood. (A) Case 1:
45,XN,der(11)t(11;13)(q24.2;q12),-13. (B) Case 4:
46,XN,der(11)t(11;15)(q23.3;q21.3). (C) Maternal
karyotype of case 4 [46,XX,t(11;15)(q23;q21)], indicating a
balanced translocation.
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Copy and paste a formatted citation
Spandidos Publications style
Zhang T, Cong X, Li Z, Cao X, Hu L, Luo X, Liu Y, Liu W and Wei F: Genetic etiology and phenotypic characteristics of fetuses with 11q deletion syndrome (11q23.3‑q25). Exp Ther Med 32: 185, 2026.
APA
Zhang, T., Cong, X., Li, Z., Cao, X., Hu, L., Luo, X. ... Wei, F. (2026). Genetic etiology and phenotypic characteristics of fetuses with 11q deletion syndrome (11q23.3‑q25). Experimental and Therapeutic Medicine, 32, 185. https://doi.org/10.3892/etm.2026.13180
MLA
Zhang, T., Cong, X., Li, Z., Cao, X., Hu, L., Luo, X., Liu, Y., Liu, W., Wei, F."Genetic etiology and phenotypic characteristics of fetuses with 11q deletion syndrome (11q23.3‑q25)". Experimental and Therapeutic Medicine 32.1 (2026): 185.
Chicago
Zhang, T., Cong, X., Li, Z., Cao, X., Hu, L., Luo, X., Liu, Y., Liu, W., Wei, F."Genetic etiology and phenotypic characteristics of fetuses with 11q deletion syndrome (11q23.3‑q25)". Experimental and Therapeutic Medicine 32, no. 1 (2026): 185. https://doi.org/10.3892/etm.2026.13180
Copy and paste a formatted citation
x
Spandidos Publications style
Zhang T, Cong X, Li Z, Cao X, Hu L, Luo X, Liu Y, Liu W and Wei F: Genetic etiology and phenotypic characteristics of fetuses with 11q deletion syndrome (11q23.3‑q25). Exp Ther Med 32: 185, 2026.
APA
Zhang, T., Cong, X., Li, Z., Cao, X., Hu, L., Luo, X. ... Wei, F. (2026). Genetic etiology and phenotypic characteristics of fetuses with 11q deletion syndrome (11q23.3‑q25). Experimental and Therapeutic Medicine, 32, 185. https://doi.org/10.3892/etm.2026.13180
MLA
Zhang, T., Cong, X., Li, Z., Cao, X., Hu, L., Luo, X., Liu, Y., Liu, W., Wei, F."Genetic etiology and phenotypic characteristics of fetuses with 11q deletion syndrome (11q23.3‑q25)". Experimental and Therapeutic Medicine 32.1 (2026): 185.
Chicago
Zhang, T., Cong, X., Li, Z., Cao, X., Hu, L., Luo, X., Liu, Y., Liu, W., Wei, F."Genetic etiology and phenotypic characteristics of fetuses with 11q deletion syndrome (11q23.3‑q25)". Experimental and Therapeutic Medicine 32, no. 1 (2026): 185. https://doi.org/10.3892/etm.2026.13180
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