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A Rare, Recurrent,De Novo 14q32.2q32.31 Microdeletion of 1.1 Mb in a 20-Year-Old Female Patient with a Maternal UPD(14)-Like Phenotype and Intellectual Disability
Abstract
We present a 20-year-old female patient from Indonesia with intellectual disability (ID), proportionate short stature, motor delay, feeding problems, microcephaly, facial dysmorphism, and precocious puberty who was previously screened normal for conventional karyotyping, fragile X testing, and subtelomeric MLPA analysis. Subsequent genome wide array analysis was performed on DNA from blood and revealed a 1.1 Mb deletion in 14q32.2q32.31 (chr14:100,388,343-101,506,214; hg19). Subsequent carrier testing in the parents by array showed that the deletion had occurred de novo in the patient and that her paternal 14q32 allele was deleted. The deleted region encompasses the DLK1/GTL2 imprinted gene cluster which is consistent with the maternal UPD(14)-like phenotype of the patient. This rare, recurrent microdeletion was recently shown not to be mediated by low copy repeats, but by expanded TGG repeats, flanking the 14q32.2q32.21 deletion boundaries, a novel mechanism of recurrent genomic rearrangement. This is another example how the application of high resolution genome wide testing provides an accurate genetic diagnosis, thereby improving the care for patients and optimizing the counselling for family.
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![Figure 2 (a) Array plots of chromosome 14, visualized using the Affymetrix Chromosome Analysis Suite (ChAS) Software. A 1.1 Mb loss in 14q32.2q32.31 was detected in Patient 1 (arr[hg19] 14q32.2q32.31(100,388,343-101,506,214)x1 dn) as indicated by the red rectangle. (b) Trio analysis confirms that the deletion has occurred de novo in the patient.](/paper-figures/fbe4d4583b4f4198ad3b44e463201d7b/a-rare-recurrent-i-de-novo-i-14q32-2q32-31-microdeletion-of-1-1-mb-in-a-20-year-figure-2.jpg)
![Figure 3 FISH study in the patient and her father. In each of them, 30 metaphases from cultured peripheral blood lymphocytes were analysed. (a) Patient metaphase showing one normal chromosome 14 [RP11-123M6 (green)/14 qter 9 (red)] and the del(14)(q32.2q32.31) with only 14 qter signal (red). (b) Metaphase from the father with a normal FISH pattern, indicating two normal chromosomes 14.](/paper-figures/f650551a2306413387639b8b5e5e4780/a-rare-recurrent-i-de-novo-i-14q32-2q32-31-microdeletion-of-1-1-mb-in-a-20-year-figure-3.jpg)
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“This area is inherently unstable and a 1.1 Mb microdeletion (14q32.2.q32.3, coordinates Chr14: ~100 400 000‐101 500 000) has been reported in a number of patients displaying motor delay, hypotonia, and feeding problems. 43 , 44”
From Validation of differentially expressed brain‐enriched microRNAs in the plasma of PD patients (2020) · cites this paper as [44]
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Mechanisms of change in gene copy number
Hastings, P. J., Lupski, J. R., Rosenberg, S. M., & Ira, G. (2009) · Nature Reviews Genetics · doi:10.1038/nrg2593 · Cited by 1,316
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Cited by
Validation of differentially expressed brain‐enriched microRNAs in the plasma of PD patients
Ravanidis, S., Bougea, A., Papagiannakis, N., Koros, C., Simitsi, A. M., Pachi, I., Breza, M., Stefanis, L., & Doxakis, E. (2020) · Annals of Clinical and Translational Neurology · doi:10.1002/acn3.51146 · Cited by 63
Metadata
- Authors
- Zada, A., Mundhofir, F. E. P., Pfundt, R., Leijsten, N., Nillesen, W., Faradz, S. M. H., & de Leeuw, N.
- Affiliations
- Department of Human Genetics, Radboud University Medical Center, The Netherlands Division of Human Genetics, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands
- Center for Biomedical Research (CEBIOR), Faculty of Medicine, Diponegoro University, GSG 2nd Floor, Jl. Dr. Sutomo 14, Semarang 50244, Indonesia
- Venue
- Case Reports in Genetics
- Publisher
- Wiley
- Published
- 2014
- Volume
- 2014
- Pages
- 1-5
- ISSN
- 2090-6544
- 2090-6552
- PMC
- PMC3985205
- Cited by
- 6
- References
- 1
- Language
- en
- Funders
- Excellent Scholarship Program of the Bureau of Planning and International Cooperation
- Ministry of National Education, Government of Indonesia
- Radboud University Medical Centre
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- Zada, A., Mundhofir, F. E. P., Pfundt, R., Leijsten, N., Nillesen, W., Faradz, S. M. H., & de Leeuw, N. (2014). A Rare, Recurrent,De Novo 14q32.2q32.31 Microdeletion of 1.1 Mb in a 20-Year-Old Female Patient with a Maternal UPD(14)-Like Phenotype and Intellectual Disability. Case Reports in Genetics. https://doi.org/10.1155/2014/530134
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