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.

中文翻译：

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17p11.2p12 和 Yq11 缺失的从头非复发性重复患者的报告。

背景 17p11.2p12 基因座是一个不稳定的区域，易发生几种已知的基因组疾病和非复发性重排，这些重排会产生不同且范围广泛的表型。近 1% 的男性新生儿 Y 染色体缺失；这些事件主要涉及异染色质区域，但可能延伸到含有无精子因子区域的常染色质 Yq 片段。病例介绍 我们描述了两个独立的染色体重排的发生，这些重排起源于一名男性患者的从头事件：17p11.2p12 的 10.8-Mb 重复和 Yq11 的 14.7-Mb 缺失。该个体与先前描述的具有这些重排中的一种或另一种的患者具有一些临床特征，包括整体发育迟缓、身材矮小、肌张力减退、青春期延迟、某些面部特征和无临床表现的全身性脱髓鞘性感觉运动多发性神经病。我们的患者还表现出一些以前未在相关个体中描述的特征，包括弯曲指、耳前凹坑和背部和肘部多毛症。结携带 17p11.2p12 重复或 Yq11 缺失的患者。