Homozygosity for a Robertsonian Translocation (13q;14q) in an Otherwise Healthy 44, XY Man With a History of Repeated Fetal Losses

Abdalla, Ebtesam; Kholeif, Soha; Elshaffie, Reem M.

doi:10.1309/lm6fxj1win2gimxv

Cited by 3 publications

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“…One of the structural chromosomopathies is the Robertsonian translocation, defined as the fusion of two non-homologous acrocentric chromosomes (1,2,3). The frequency is one case (2).…”

Section: Introductionmentioning

confidence: 99%

Translocación rob(13; 15) (q10; q10): a propósito de un caso

Nauñay

Jiménez²,

Bastidas³

2018

UNIVMED

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Introducción: La translocación robertsoniana se define como la fusión de dos cromosomas acrocéntricos no homólogos, con una frecuencia de un caso por cada 1.000 recién nacidos. Caso clínico: Mujer de 31 años de edad, con 6 abortos. Gesta 1: hija de 12 años de edad, con ausencia de dismorfias. Terminaron en abortos espontáneos antes de las 12 primeras semanas de gestación desde la gesta 2, 11 años atrás, hasta la gesta 7, ocurrida en el año de la consulta. Con estudio citogenético que reporta 45, XX, rob(13;15) (q10;q10). Conclusión: El portador de una translocación robertsoniana entre los cromosomas 13;15 conduce a la pérdida precoz del embarazo o al nacimiento de un neonato con múltiples defectos.

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“…One of the structural chromosomopathies is the Robertsonian translocation, defined as the fusion of two non-homologous acrocentric chromosomes (1,2,3). The frequency is one case (2).…”

Section: Introductionmentioning

confidence: 99%

Translocación rob(13; 15) (q10; q10): a propósito de un caso

Nauñay

Jiménez²,

Bastidas³

2018

UNIVMED

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One pedigree we all may have come from – did Adam and Eve have the chromosome 2 fusion?

Stankiewicz

2016

Mol Cytogenet

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BackgroundIn contrast to Great Apes, who have 48 chromosomes, modern humans and likely Neandertals and Denisovans have and had, respectively, 46 chromosomes. The reduction in chromosome number was caused by the head-to-head fusion of two ancestral chromosomes to form human chromosome 2 (HSA2) and may have contributed to the reproductive barrier with Great Apes.ResultsNext generation sequencing and molecular clock analyses estimated that this fusion arose prior to our last common ancestor with Neandertal and Denisovan hominins ~ 0.74 - 4.5 million years ago.HypothesesI propose that, unlike recurrent Robertsonian translocations in humans, the HSA2 fusion was a single nonrecurrent event that spread through a small polygamous clan population bottleneck. Its heterozygous to homozygous conversion, fixation, and accumulation in the succeeding populations was likely facilitated by an evolutionary advantage through the genomic loss rather than deregulation of expression of the gene(s) flanking the HSA2 fusion site at 2q13.ConclusionsThe origin of HSA2 might have been a critical evolutionary event influencing higher cognitive functions in various early subspecies of hominins. Next generation sequencing of Homo heidelbergensis and Homo erectus genomes and complete reconstruction of DNA sequence of the orthologous subtelomeric chromosomes in Great Apes should enable more precise timing of HSA2 formation and better understanding of its evolutionary consequences.

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