Recombinant chromosome 8 (Rec8) syndrome (San Luis Valley [SLV] syndrome; OMIM #179613) is a rare chromosome disorder associated with intellectual disability, congenital heart defects, variable skeletal and urogenital anomalies, and dysmorphic features. It is characterized by a partial terminal deletion of 8p and a partial terminal duplication of 8q, which is usually due to meiotic recombination of a pericentric inversion of chromosome 8 of a healthy carrier parent. There are only few reports of cases with breakpoints defined at the molecular level by molecular karyotyping. We report on a case of Rec8 syndrome with previously unreported breakpoints in a male fetus with intrauterine growth restriction, hypogenesis of the corpus callosum, bilateral cleft lip/palate, and congenital heart defect. Cytogenetic analysis revealed a recombinant chromosome 8 [46,XY,rec(8)(qter→q21.11::p23.3→qter)] secondary to a paternal pericentric inversion [46,XY,inv(8)(p23.3q21.11)]. Molecular karyotyping correspondingly showed a terminal copy number loss of 1.4 Mb (arr[hg19] 8p23.3(158048_1514749)×1) and a terminal copy number gain of chromosome band 8q21.11q24.3 of 69.8 Mb (arr[hg19] 8q21.11q24.3(76477367_146295771)×3). To our knowledge, this is the fourth reported case diagnosed prenatally. We describe the postnatal clinical course of the male newborn. Furthermore, we review and compare the phenotypic features and breakpoints of 74 reported Rec8/SLV cases.

中文翻译：

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因父系外周中心倒置inv（8）（p23.3q21.11）而使用重组染色体rec（8）（qter→q21.11 :: p23.3→qter）的患者的产前和产后发现并复习了文献。

重组8号染色体（Rec8）综合征（圣路易斯谷[SLV]综合征； OMIM＃179613）是一种罕见的染色体疾病，与智力残疾，先天性心脏缺陷，骨骼和泌尿生殖系统异常以及畸形特征相关。它的特征是部分末端缺失8p和部分末端重复8q，这通常是由于健康携带者父母的第8号染色体的周向倒位的减数分裂重组。关于通过分子核型在分子水平上定义断点的病例报道很少。我们报告了一个Rec8综合征的病例，该病例在子宫内发育受限，call体发育不全，双侧唇裂/ pal裂和先天性心脏缺损的男性胎儿中具有以前未报告的断点。细胞遗传学分析揭示了继父系外周转位[46，XY，inv（8）（p23.3q21）之后的重组染色体8 [46，XY，rec（8）（qter→q21.11 :: p23.3→qter）] .11）]。分子核型分析相应地显示了1.4 Mb的末端拷贝数损失（arr [hg19] 8p23.3（158048_1514749）×1）和69.8 Mb的染色体8q21.11q24.3末端拷贝数增加（arr [hg19] 8q21。 11q24.3（76477367_146295771）×3）。据我们所知，这是产前诊断的第四例报告病例。我们描述了男性新生儿的产后临床过程。此外，我们审查并比较了74个报告的Rec8 / SLV病例的表型特征和断点。4 Mb（arr [hg19] 8p23.3（158048_1514749）×1）和69.8 Mb染色体带8q21.11q24.3的末端拷贝数增益（arr [hg19] 8q21.11q24.3（76477367_146295771）×3）。据我们所知，这是产前诊断的第四例报告病例。我们描述了男性新生儿的产后临床过程。此外，我们审查并比较了74个报告的Rec8 / SLV病例的表型特征和断点。4 Mb（arr [hg19] 8p23.3（158048_1514749）×1）和69.8 Mb染色体带8q21.11q24.3的末端拷贝数增益（arr [hg19] 8q21.11q24.3（76477367_146295771）×3）。据我们所知，这是产前诊断的第四例报告病例。我们描述了男性新生儿的产后临床过程。此外，我们审查并比较了74个报告的Rec8 / SLV病例的表型特征和断点。