Recombinant chromosome 18 resulting from a maternal pericentric inversion

AbstractChromosome 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.

Download Full-text

Pre‐ and postnatal findings in a patient with a recombinant chromosome rec(8)(qter→q21.11::p23.3→qter) due to a paternal pericentric inversion inv(8)(p23.3q21.11) and review of the literature

American Journal of Medical Genetics Part A ◽

10.1002/ajmg.a.61804 ◽

2020 ◽

Vol 182 (11) ◽

pp. 2680-2684

Author(s):

Wisam Habhab ◽

Ulrike Mau‐Holzmann ◽

Sylke Singer ◽

Angelika Rieß ◽

Karl‐Oliver Kagan ◽

...

Keyword(s):

Pericentric Inversion ◽

Review Of The Literature ◽

Recombinant Chromosome

Download Full-text

Recombinant Chromosome 4 from a Familial Pericentric Inversion: Prenatal and Adulthood Wolf-Hirschhorn Phenotypes

Case Reports in Genetics ◽

10.1155/2013/306098 ◽

2013 ◽

Vol 2013 ◽

pp. 1-4

Author(s):

Francesca Malvestiti ◽

Francesco Benedicenti ◽

Simona De Toffol ◽

Sara Chinetti ◽

Adelheid Höller ◽

...

Keyword(s):

Pericentric Inversion ◽

Array Cgh ◽

Familial Case ◽

Chromosome 4 ◽

Recombinant Chromosome

Pericentric inversion of chromosome 4 can give rise to recombinant chromosomes by duplication or deletion of 4p. We report on a familial case of Wolf-Hirschhorn Syndrome characterized by GTG-banding karyotypes, FISH, and array CGH analysis, caused by a recombinant chromosome 4 with terminal 4p16.3 deletion and terminal 4q35.2 duplication. This is an aneusomy due to a recombination which occurred during the meiosis of heterozygote carrier of cryptic pericentric inversion. We also describe the adulthood and prenatal phenotypes associated with the recombinant chromosome 4.

Download Full-text

Pericentric Inversion in Chromosome 10 in a Girl, Inherited from a Phenotypically Normal Mother: Case Report and Literature Review

International Journal of Negative Results ◽

10.14302/issn.2641-9181.ijnr-17-1859 ◽

2017 ◽

Vol 1 (1) ◽

pp. 5-11

Author(s):

Maryam Sotoudeh Anvari ◽

Behrang Taghvaei ◽

Mohammad Vasei

Keyword(s):

Case Report ◽

Literature Review ◽

Pericentric Inversion ◽

Review Of The Literature ◽

Recombinant Chromosome ◽

Chromosome 10 ◽

Pericentric Inversions

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.

Download Full-text