<i>De Novo</i> San Luis Valley Syndrome-like der(8) Chromosome With a Concomitant dup(8p22) in a Mexican Girl

Sánchez-Casillas, Alma Laura; Rivera, Horacio; Castro-Martínez, Anna Gabriela; Garcı́a-Ortiz, José Elı́as; Córdova-Fletes, Carlos; Mendoza-Pérez, Paul

doi:10.3343/alm.2017.37.1.88

Cited by 3 publications

(1 citation statement)

References 9 publications

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“…There are very few reported individuals with invdup8p in addition to dup8q and del8p. The most similar patient was reported by Sánchez‐Casillas et al and had the same 8p deletion, a larger 8q duplication, and a much smaller 8p duplication. Her phenotype was significantly milder in growth and developmental delays, and she had no congenital heart disease.…”

Section: Discussionsupporting

confidence: 59%

Postnatal diagnosis of de novo complex der(8) in a boy with prenatal diagnosis of recombinant chromosome 8 syndrome

Oren

Camacho

Xie

et al. 2019

Clinical Case Reports

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Section: Discussionsupporting

confidence: 59%

Postnatal diagnosis of de novo complex der(8) in a boy with prenatal diagnosis of recombinant chromosome 8 syndrome

Oren

Camacho

Xie

et al. 2019

Clinical Case Reports

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Long-read genome sequencing resolves complex genomic rearrangements in rare genetic syndromes

Showpnil,

E. Hernandez Gonzalez,

Ramadesikan

et al. 2024

npj Genom. Med.

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Long-read sequencing can often overcome the deficiencies in routine microarray or short-read technologies in detecting complex genomic rearrangements. Here we used Pacific Biosciences circular consensus sequencing to resolve complex rearrangements in two patients with rare genetic anomalies. Copy number variants (CNVs) identified by clinical microarray —chr8p deletion and chr8q duplication in patient 1, and interstitial deletions of chr18q in patient 2—were suggestive of underlying rearrangements. Long-read genome sequencing not only confirmed these CNVs but also revealed their genomic structures. In patient 1, we resolved a novel recombinant chromosome 8 (Rec8)-like rearrangement with a 3.43 Mb chr8q terminal duplication that was linked to a 7.25–8.21 Mb chr8p terminal deletion. In patient 2, we uncovered a novel complex rearrangement involving a 1.17 Mb rearranged segment and four interstitial deletions ranging from 9 bp to 12.39 Mb. Our results underscore the diversity of clinically relevant structural rearrangements and the power of long-read sequencing in unraveling their nuanced architectures.

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Chromosome 8p Syndromes Clinical Presentation and Management Guidelines

Santucci,

Malik,

Angione

et al. 2024

Clinical Genetics

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Rearrangements of the p‐arm of Chromosome 8 can result in a spectrum of neurodevelopmental challenges, along with increased risk of epilepsy, structural brain and cardiac malformations, persisting developmental delays, and other health challenges. The majority of patients reported on in this sample are characterized by an inverted‐duplication deletion rearrangement, but deletions, duplications, and mosaic ring changes in 8p result in similar phenotype. In this report, we add to the phenotypic and functional description of these patients according to their specific chromosomal rearrangement, share neuro‐psychometric values, and propose surveillance care guidelines for caregivers and medical providers of patients with Chromosome 8p Syndromes. Observations from clinical experience with 24 patients seen at our 8p‐dedicated Multi‐Disciplinary Neurogenetics program are shared.

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De Novo San Luis Valley Syndrome-like der(8) Chromosome With a Concomitant dup(8p22) in a Mexican Girl

Cited by 3 publications

References 9 publications

Postnatal diagnosis of de novo complex der(8) in a boy with prenatal diagnosis of recombinant chromosome 8 syndrome

Postnatal diagnosis of de novo complex der(8) in a boy with prenatal diagnosis of recombinant chromosome 8 syndrome

Long-read genome sequencing resolves complex genomic rearrangements in rare genetic syndromes

Chromosome 8p Syndromes Clinical Presentation and Management Guidelines

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