Pericentric Inversion in Chromosome 10 in A Girl, Inherited From A Phenotypically Normal Mother: Case Report and Literature Review - Pericentric Inversion in Chromosome 10 in A Girl, Inherited From A Phenotypically Normal Mother: Case Report and Literature Review - Open Access Pub

Pericentric inversions in chromosome 10 are regarded as both common and rare conditions, based on breakage and rearrangement within each specific segment. We present phenotypic and cytogenetic characterizations of a rare recombinant chromosome 10, namely inv(10)(p11q26), in a 13-month-old flabby girl associated with a maternal pericentric inversion. A review of the literature on the different aspects of this condition is also provided. DOI10.14302/issn.2641-9181.ijnr-17-1859 Inversions as a subclass of chromosome mutations constitute structural chromosome anomalies with arrangements in normal genetic material. A minimum of 2 breaks in 1 chromosome is required for the occurrence of inversion, 1, 3 in which the intercalated fragment rotates 180° and reinserts into the chromosome and the breaks reintegrate. If the inverted segment includes the centromere (with the involvement of both arms), the inversion is classified as pericentric and if the 2 breaks appear on the same side of the centromere (in the same arm), the inversion is categorized as paracentric. 2 Most inversions are usually balanced rearrangements and do not cause an abnormal phenotype in carriers. However, if the breakage occurs within a functional gene, there is an increased risk of meiotic errors, which can lead to infertility or early spontaneous fetal loss. 1 On the basis of a study on 33 families, Collinson et al 4 revealed that a small pericentric inversion in chromosome 10, namely inv(10)(p11.2q21.2), is a common chromosomal variant rather than an aberration. Drawing upon comparative genomic hybridization array, Ciuladaite et al 5reported a large pericentric inversion in chromosome 10, namely inv(10)(p15.1q26.12), in 2 relatives in 1 family with idiopathic intellectual disability as a rare chromosomal abnormality. The present report describes a patient with a pericentric inversion in chromosome 10 with hypotonia and convulsion, in association with a maternal pericentric inversion. We employed various online data bases specifically Google Scholar, Scopus, and PubMed—on English articles in September 2017. We tested various keywords such as “pericentric inversion in chromosome 10”, “chromosome 10 inversion”, and “inv(10)(p xx q xx)” in nontumoral subjects in these databases. A 13-month-old girl was referred to our center for chromosome evaluation via the observation of facial dysmorphism, hypotonia, convulsion, and developmental delay by a neurologist. The only child of healthy-looking unrelated parents, the patient was a full-term baby with 3500 g birth weight. She had a prenatal history