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Case Reports
. 2019 Aug 1;12:35.
doi: 10.1186/s13039-019-0438-0. eCollection 2019.

Report of a Patient With a De Novo Non-Recurrent Duplication of 17p11.2p12 and Yq11 Deletion

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Free PMC article
Case Reports

Report of a Patient With a De Novo Non-Recurrent Duplication of 17p11.2p12 and Yq11 Deletion

Liliana Fernández-Hernández et al. Mol Cytogenet. .
Free PMC article

Abstract

Background: The 17p11.2p12 locus is an unstable region that is predisposed to several known genomic disorders and non-recurrent rearrangements that yield varied and wide-ranging phenotypes. Nearly 1% of male newborns have deletions in the Y chromosome; these events primarily involve the heterochromatic region, but may extend to euchromatic Yq segments containing azoospermia factor regions.

Case presentation: We describe the occurrence of two independent chromosomal rearrangements that originated as de novo events in a single male patient: a 10.8-Mb duplication of 17p11.2p12 and a 14.7-Mb deletion of Yq11. This individual shares some clinical characteristics with previously described patients having one or the other of these rearrangements, including global developmental delay, short stature, hypotonia, delayed puberty, certain facial features and a generalized demyelinating sensory-motor polyneuropathy without clinical manifestation. Our patient also presents some features that were not previously described in relevant individuals, including camptodactyly, preauricular pits and hypertrichosis of the back and elbows.

Conclusions: To our knowledge, this is the first patient to be reported with independent de novo deletion/duplication events involving chromosomes 17 and Y. We discuss possible responsible mechanisms and address the phenotype, particularly in light of the clinical features that were not previously reported for patients bearing a duplication of 17p11.2p12 or a deletion of Yq11. We suggest that some of the previously reported patients with Yq11 deletion and clinical manifestations other than male infertility may have additional chromosomal imbalances that could be identified by chromosome microarray analysis, as illustrated by the present case.

Keywords: Chromosomal microarray analysis; Concurrent de novo rearrangements; Duplication of 17p11.2p12; Non-recurrent rearrangements; Yq11 deletion.

Conflict of interest statement

Competing interestsThe authors declare that they have no competing interests.

Figures

Fig. 1
Fig. 1
Clinical phenotype of the patient. a At 24 months old, showing arched eyebrows, down-slanting palpebral fissures and a large and smooth philtrum. b At 15 years old, showing bifrontal narrowing, broad nose, thick and everted lips, a wide chin and large ears. c High, arched palate. d and e) Hypertrichosis of back and elbows. f Camptodactyly
Fig. 2
Fig. 2
Results of our cytogenetic and molecular studies. a CMA plot showing the 14.7-Mb deletion of Yq11 (ChrY: 14,064,952-28,766,705, GRCh37). b CMA plot showing the 10.8-Mb duplication of 17p12p11.2 (Chr17:10,701,287-21,504,890, GRCh37). c Partial G-band karyotype obtained from peripheral lymphocytes, with 600 GTG bands showing dup(17)(p11.2p12) and d) del(Y)(q11). e Complete painting of chromosome 17 (green fluorochrome) and the Y chromosome (orange fluorochrome) were performed using Vysis probes (Vysis, USA). f MLPA analysis of the PMP22 gene (SALSA® MLPA® P033-B4 CMT1 probemix; MRC Holland, Amsterdam, The Netherlands), where our patient shows complete duplication of the PMP22 gene plus the nearby ELAC2, COX10, TEKT3 and DRC3 genes

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