Detection of Cryptic Fragile X Full Mutation Alleles by Southern Blot in a Female and Her Foetal DNA via Chorionic Villus Sampling, Complicated by Mosaicism for 45,X0/46,XX/47,XXX.

Adult Alleles Chorionic Villi Sampling / methods Chromosomes, Human, X / genetics Female Fragile X Mental Retardation Protein / genetics Fragile X Syndrome / diagnosis Genetic Testing / methods Humans Mosaicism Pregnancy Trinucleotide Repeat Expansion
45,X0/46,XX/47,XXX CGG FMR1 X syndrome cultured chorionic villus fragile full mutation mosaicism sample southern blot

Journal

Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097

Informations de publication

Date de publication:
24 05 2021
Historique:
received: 08 04 2021
revised: 08 05 2021
accepted: 18 05 2021
entrez: 2 6 2021
pubmed: 3 6 2021
medline: 15 12 2021
Statut: epublish

Résumé

We describe a female with a 72 CGG

Identifiants

DOI: 10.3390/genes12060798 PMID: 34073864 PMC: PMC8225079
pubmed: 34073864
pii: genes12060798
doi: 10.3390/genes12060798
pmc: PMC8225079
pii:
doi:

Substances chimiques

FMR1 protein, human 0
Fragile X Mental Retardation Protein 139135-51-6

Types de publication

Case Reports Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Références

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Auteurs

Alison Pandelache (A)

Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.

David Francis (D)

Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.

Ralph Oertel (R)

Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.

Rebecca Dickson (R)

Maternal Fetal Medicine Department, Royal Hospital for Women, Randwick, NSW 2031, Australia.

Rani Sachdev (R)

Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, NSW 2031, Australia.

Ling Ling (L)

Diagnosis and Development, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.

Dinusha Gamage (D)

Diagnosis and Development, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.

David E Godler (DE)

Diagnosis and Development, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.
Faculty of Medicine, Dentistry and Health Sciences, Department of Paediatrics, University of Melbourne, Parkville, VIC 3052, Australia.
ORCID: 0000-0002-6405-269X

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Classifications MeSH

questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Detection of Cryptic Fragile X Full Mutation...
questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Génome › Composants de génome › Gènes › Allèles › Detection of Cryptic Fragile X Full Mutation...
questionsmedicales.fr › Techniques d'investigation › Techniques cytologiques › Cytodiagnostic › Biopsie › Prélèvement de villosités choriales › Detection of Cryptic Fragile X Full Mutation...
questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Chromosomes › Chromosomes sexuels › Chromosome X › Chromosomes X humains › Detection of Cryptic Fragile X Full Mutation...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Nucléoprotéines › Protéines de liaison à l'ARN › Protéine du syndrome X fragile › Detection of Cryptic Fragile X Full Mutation...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies génétiques congénitales › Maladies neurodégénératives héréditaires › Retard mental lié à l'X › Syndrome du chromosome X fragile › Detection of Cryptic Fragile X Full Mutation...
questionsmedicales.fr › Établissements, main d'oeuvre et services de soins de santé › Services de santé › Services de médecine préventive › Services de diagnostic › Dépistage génétique › Detection of Cryptic Fragile X Full Mutation...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Detection of Cryptic Fragile X Full Mutation...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Aberrations des chromosomes › Mosaïcisme › Detection of Cryptic Fragile X Full Mutation...
questionsmedicales.fr › Phénomènes physiologiques des appareils urinaire et reproducteur › Phénomènes physiologiques de la reproduction › Reproduction › Grossesse › Detection of Cryptic Fragile X Full Mutation...
questionsmedicales.fr › Phénomènes génétiques › Mutagenèse › Expansion de séquence répétée de l'ADN › Expansion de trinucléotide répété › Detection of Cryptic Fragile X Full Mutation...