Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Coexistence of Fragile-X Syndrome, 8p23.1 Deletion, and Balanced Translocation t(7;10)(p10;q24) in a Single Family.

Genetic testing and molecular biomarkers - 1 Aug 2020

Cortés Hernán, Reyes-Rosales Mariana, Rojas-Velasco Antonio J, García-Juárez Brenda, Tapia-Guerrero Yessica S, Arenas-Diaz Silvia, Leyva-García Norberto, Macías-Gallardo Julio J, Carrillo-Mora Paul, Magaña Jonathan J

Abstract excerpt

Aims: Fragile-X syndrome (FXS) is the most common inherited form of intellectual disability; it is caused by an abnormal CGG-repeat expansion at the FMR1 gene. However, a few cases of girls with mutations in the FMR1 gene have been reported in the literature. In this study, we describe the clinical and genetic assessment of a family who exhibits the unusual coexistence of FXS, an 8p23.1 deletion, and balanced...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Chromosome Deletion
Share to Chromosomes, Human, Pair 8

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Family

Share to Fragile X Mental Retardation Protein

Share to Fragile X Syndrome

Share to Intellectual Disability

Share to Mexico

Share to Translocation, Genetic

Source

Identifiers

PMID: 32716213
DOI: 10.1089/gtmb.2019.0276

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 11 closest

Coexistence of Fragile-X Syndrome, 8p23.1 Deletion, and Balanced Translocation t(7;10)(p10;q24) in a Single Family.PMID 32716213Read ↗

Co-Occurrence of Fragile X Syndrome with a Second Genetic Condition: Three Independent Cases of Double Diagnosis.Semantic proximity Read ↗

Recurrent missense variant in the nuclear export signal of FMR1 associated with FXS-like phenotype including intellectual disability, ASD, facial abnormalities.Semantic proximity Read ↗

Rare FMR1 gene mutations causing fragile X syndrome: A review.Semantic proximity Read ↗

Fragile X syndrome in females - a familial case report and review of the literature.Semantic proximity Read ↗

Clinical and molecular characteristics of FMR1 microdeletion in patient with fragile X syndrome and review of the literature.Semantic proximity Read ↗

Parallel deletion and duplication at 7q11.23 in a silent carrier for two reciprocal syndromic disorders.Semantic proximity Read ↗

Classical fragile-X phenotype in a female infant disclosed by comprehensive genomic studies.Semantic proximity Read ↗

FMR1 gene deletion/reversion: a pitfall of fragile X carrier testing.Semantic proximity Read ↗

Co-existence of 9p deletion and Silver-Russell syndromes in a patient with maternally inherited cryptic complex chromosome rearrangement involving chromosomes 4, 9, and 11.Semantic proximity Read ↗

Fragile X syndrome in Korea: a case series and a review of the literature.Semantic proximity Read ↗

An association between precocious puberty and fragile X syndrome?Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.