Individuals with 3p deletion show a great clinical variability. Apparently, a 1.5-Mb terminal deletion, including the CRBN and CNTN4 genes, is sufficient to cause this syndrome. Partial trisomy 13q is a rare chromosomal abnormality with a variable phenotypic expression, but in most cases, patients have a phenotype resembling complete trisomy 13. The aim of the present study is to describe a 9-month-old Mexican male patient with 3p deletion/13q duplication and a novel clinical finding. He presented with facial dysmorphism and multiple congenital alterations. Echocardiogram revealed cardiac insufficiency with hypertrophic cardiomyopathy and pulmonary hypertension, not previously reported. Karyotype from the patient and his father were 46,XY,add(3)(p26) and 46,XY,t(3;13), respectively. Microarray assay of the proband exhibited an approximately 2.6-Mb loss at terminal 3p26.3 and a 27.7-Mb gain of the long arm in terminal chromosome 13 at q31.1q34. A chromosomal imbalance with a partial trisomy 13q31.1q34 and monosomy 3p26.3 of paternal origin were detected. Microarray assay of both parents were normal. The proband has a cardiomyopathy not previously reported. These data enrich the spectrum of clinical manifestations in 3p deletion/3q duplication chromosomopathy.
Mol Syndromol

中文翻译：

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部分三体性 13q/单体性 3p 由父系互惠 3p 引起；13q 易位导致面部畸形和肥厚性心肌病男孩

具有 3p 缺失的个体表现出很大的临床变异性。显然，一个 1.5 Mb 的终端删除，包括CRBN和CNTN4基因，足以引起这种综合症。部分 13q 三体是一种罕见的染色体异常，具有可变的表型表达，但在大多数情况下，患者的表型类似于完全的 13 三体。本研究的目的是描述一名 9 个月大的墨西哥男性患者，其 3p 缺失/ 13q 重复和新的临床发现。他出现面部畸形和多种先天性改变。超声心动图显示心功能不全伴肥厚型心肌病和肺动脉高压，此前未见报道。患者及其父亲的核型分别为 46,XY,add(3)(p26) 和 46,XY,t(3;13)。先证者的微阵列检测在 3p26.3 末端显示出大约 2.6-Mb 的损失，在 q31.1q34 的 13 号染色体末端的长臂增加了 27.7-Mb。检测到染色体失衡，部分三体性 13q31.1q34 和单体性 3p26.3 来源于父系。父母双方的微阵列检测均正常。先证者患有以前未报道过的心肌病。这些数据丰富了 3p 缺失/3q 重复染色体病的临床表现谱。
摩尔综合症