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. 2022 Mar 15;14(3):1663-1671.
eCollection 2022.

A familial 3q28q29 duplication induced mild intellectual disability: case presentation and literature review

Xiaohui Wen  1 , Jianjiang Zhu  1 , Lirong Cai  1 , Guodong Tang  1 , Wen Zeng  1 , Yao Luo  1 , Qiao Zhang  1 , Huawei Zhao  1 , Xiaojun Li  1 , Hong Qi  1
Affiliations

A familial 3q28q29 duplication induced mild intellectual disability: case presentation and literature review

Xiaohui Wen et al. Am J Transl Res. .

Abstract

The 3q29 duplication syndrome is an uncommon imbalanced chromosomal disorder with highly variable manifestations, mainly characterized by a mild mental anomaly, eye abnormalities, and developmental delay. Only a few such cases have been reported with significant phenotypic heterogeneity. Here, we reported a case with familial 3q28q29 duplication that was 8.5 Mb in length, covering all fragments from previous reports. A series of genetic detection techniques, including karyotyping, chromosomal microarray, and fluorescence in situ hybridization, demonstrated that the rearrangement, in this case, was due to a three-chromosome translocation of the paternal grandmother of the fetus. Interestingly, only mild intellectual disability in the father and slightly thick nuchal translucency (NT) in the fetus were observed. The fetus was delivered at term and showed normal developmental milestones. Our study increased the understanding of this syndrome and highlighted the necessity and importance of the rational use of multiple genetic techniques in prenatal diagnosis.

Keywords: 3q29 duplication; SNP array; fluorescence in situ hybridization; intellectual disability.

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Conflict of interest statement

None.

Figures

Figure 1
Figure 1
Clinical indications in the case. A. Pedigree diagram of the family. B. The fetus (III-1) in this case showed a thickened NT at 12w6d of gestation.
Figure 2
Figure 2
The karyotypes of key members of the family. A. Subject I-1: 46, XY. B. I-2: 46, XX, t(3;20;6)(q28;p13;p11.2). C. II-1: 46, XX. D. II-2: 46, XX. E. II-3: 46, XY, der(20)t(3;20)(q28;p13). F. III-1: 46, XY, der(20)t(3;20)(q28;p13)pat. Red arrows indicate the rearranged chromosomes.
Figure 3
Figure 3
The diagnostic results of CMA of the subjects II-3 (A, B) and III-1 (C, D). Both individuals had a 8.5 Mb 3q28q29 microduplication, arr[hg19] 3q28q29(189,336,472-197,851,444)x3 (A, C), and a 342.7 Kb 20p13 microdeletion, arr[hg19] 20p13(61,661-404,435)x1 (B, D). Red blocks indicate the duplicated or deleted regions.
Figure 4
Figure 4
FISH results of the subjects II-3 (A, B) and III-1 (C, D). (A) Probe signals of 3pter (green) and 3qter (red) indicate an extra 3qter in II-3. (B) Probe signals of 20pter (green) and 20qter (red) are normal in II-3. (C) Probe signals of 3pter (green) and 3qter (red) indicate an extra 3qter in III-1. (D) Probe signals of 20pter (green) and 20qter (red) are normal in III-1. White arrows indicate the derived chromosome carrying the extra 3qter signal.
See this image and copyright information in PMC

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