Poterico Julio A, Vásquez Flor, Chávez-Pastor Miguel, Trubnykova Milana, Chavesta Félix, Chirinos Jenny, Salcedo Nancy, Mena Rosmery, Cubas Sulema, González Rocío, Alvariño Rossana, Abarca-Barriga Hugo
Department of Pathology, Instituto Nacional de Enfermedades Neoplásicas, Lima, Perú.
Department of Genetic & Inborn Error Metabolism, Instituto Nacional de Salud del Niño, Breña, Lima, Perú.
J Pediatr Genet. 2017 Dec;6(4):258-266. doi: 10.1055/s-0037-1604099. Epub 2017 Jul 6.
Chromosome 18 pericentric inversion carriers could have offspring with recombinant chromosomes, leading to patients with clinical variable manifestations. Patients with 18p-/18q+ rearrangements share some clinical characteristics, while other characteristics differ. Factors for such divergence include the length of the inverted segment, among others. Here, we describe a Peruvian child with dysmorphic features, intellectual disability persistent microscopic hematuria, aortic pseudocoarctation, and descending aorta arteritis, among others. Karyotype analysis of family members determined the mother as the carrier of a pericentric inversion: 18[inv(18)(p11.2q21.3)]. This child carries a recombinant chromosome 18, with chromosomal microarray analysis detecting two genomic imbalances in patient's chromosome 18: one duplicated region and one deleted segment in the large and the short arms, respectively. Persistent microscopic hematuria has not been reported among 18p-/18q+ phenotypes. Our patient elucidates that other factors play significant and yet unknown roles for not fulfilling the proposed genotype-phenotype correlation associated with hemizygosity in this type of recombinant chromosome 18 or presenting these features as the patient ages.
18号染色体臂间倒位携带者可能会生育具有重组染色体的后代，从而导致临床表现各异的患者。18p-/18q+重排的患者有一些共同的临床特征，但其他特征有所不同。造成这种差异的因素包括倒位片段的长度等。在此，我们描述了一名患有畸形特征、智力残疾、持续性镜下血尿、主动脉假性缩窄和降主动脉炎等疾病的秘鲁儿童。对家庭成员的核型分析确定母亲为臂间倒位携带者：18[inv(18)(p11.2q21.3)]。这名儿童携带一条重组18号染色体，染色体微阵列分析在患者的18号染色体上检测到两个基因组失衡：一个在长臂上的重复区域和一个在短臂上的缺失片段。在18p-/18q+表型中尚未报道过持续性镜下血尿。我们的患者表明，在这类重组18号染色体中，对于未满足所提出的与半合子相关的基因型-表型相关性或随着患者年龄增长出现这些特征，其他因素起着重要但尚不清楚的作用。
