Cryptic del/dup aberration of 60.6 Mb at 5q15-5q23.3 predicting adult-onset leukodystrophy
We report on a de novo interstitial del/dup aberration consisting of a 13.3 Mb deletion of 5q15-5q21.3 (92.1-105.4 Mb, hg19) and a 23.6 Mb tandem direct duplication of 5q21.3-5q23.3 (106.1-129.7 Mb, hg19). Although the aberration covered a total of 60.6 Mb, it was cryptic, i.e., not detectable by ka...
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| Main Authors: | , |
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| Format: | Article (Journal) |
| Language: | English |
| Published: |
6 July 2012
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| In: |
European journal of medical genetics
Year: 2012, Volume: 55, Issue: 10, Pages: 568-572 |
| ISSN: | 1878-0849 |
| DOI: | 10.1016/j.ejmg.2012.06.010 |
| Online Access: | Verlag, Volltext: http://www.sciencedirect.com/science/article/pii/S1769721212002054 Verlag, Volltext: http://dx.doi.org/10.1016/j.ejmg.2012.06.010 
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| Author Notes: | Christian Jaklin, Katrin Heiliger, Maja Hempel, Doris Sollacher, Monika Cohen, Christine C. Makowski, Thomas Meitinger, Anna Jauch, Konrad Oexle |
| Summary: | We report on a de novo interstitial del/dup aberration consisting of a 13.3 Mb deletion of 5q15-5q21.3 (92.1-105.4 Mb, hg19) and a 23.6 Mb tandem direct duplication of 5q21.3-5q23.3 (106.1-129.7 Mb, hg19). Although the aberration covered a total of 60.6 Mb, it was cryptic, i.e., not detectable by karyotyping at a resolution of 430 bands. Array-CGH indicated a diploid region of 0.6 Mb between the duplicated and the deleted segment. The aberration affected a 14-month-old boy conceived after intracytoplasmic sperm injection who presented with developmental delay, muscular hypotonia, partial agenesis of the corpus callosum, prominent forehead, low set ears, hypertelorism, hyperopia, wide-bridged nose, retrognathia, high palate, and cryptorchidism. The duplicated segment comprised the LMNB1 gene, thus predicting adult-onset autosomal-dominant leukodystrophy and revealing a temporal dimension of the phenotype. Counseling problems implicated by this prediction include “the right not to know” that the patient might want to exercise when coming of age. |
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| Item Description: | Available online 6 July 2012 Gesehen am 05.07.2018 |
| Physical Description: | Online Resource |
| ISSN: | 1878-0849 |
| DOI: | 10.1016/j.ejmg.2012.06.010 |