Congenital variant Rett syndrome in a girl with terminal deletion of chromosome 3p

A girl fulfilling four/five of six inclusion criteria and eight/nine of 11 supportive criteria for atypical Rett syndrome had a cytogenetic deletion of chromosome 3p, del(3)(pter→3p25.1∼25.2). The deletion was situated on the maternally derived chromosome and by molecular analysis the deletion break...

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Published in:Journal of medical genetics 1999-04, Vol.36 (4), p.343-345
Main Authors: Wahlström, Jan, Uller, Anna, Johannesson, Tonnie, Holmqvist, Deborah, Darnfors, Catarina, Vujic, Mihailo, Tonnby, Bernt, Hagberg, Bengt, Martinsson, Tommy
Format: Article
Language:English
Subjects:
Biological and medical sciences
Child
Chromosome 3
Chromosome deletion
Chromosome Mapping
Chromosomes
Chromosomes, Human, Pair 3 - genetics
Congenital diseases
Cytogenetics
Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
deletion
Deoxyribonucleic acid
DNA
Female
Gene Deletion
Girls
Humans
In Situ Hybridization, Fluorescence
Medical sciences
Neurology
Rett syndrome
Rett Syndrome - genetics
Short Report
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container_end_page 345
container_issue 4
container_start_page 343
container_title Journal of medical genetics
container_volume 36
creator Wahlström, Jan
Uller, Anna
Johannesson, Tonnie
Holmqvist, Deborah
Darnfors, Catarina
Vujic, Mihailo
Tonnby, Bernt
Hagberg, Bengt
Martinsson, Tommy
description A girl fulfilling four/five of six inclusion criteria and eight/nine of 11 supportive criteria for atypical Rett syndrome had a cytogenetic deletion of chromosome 3p, del(3)(pter→3p25.1∼25.2). The deletion was situated on the maternally derived chromosome and by molecular analysis the deletion breakpoint was shown to be between DNA markers D3S3589 and D3S1263.
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Prion diseases ; deletion ; Deoxyribonucleic acid ; DNA ; Female ; Gene Deletion ; Girls ; Humans ; In Situ Hybridization, Fluorescence ; Medical sciences ; Neurology ; Rett syndrome ; Rett Syndrome - genetics ; Short Report</subject><ispartof>Journal of medical genetics, 1999-04, Vol.36 (4), p.343-345</ispartof><rights>Journal of Medical Genetics</rights><rights>1999 INIST-CNRS</rights><rights>Journal of Medical Genetics1999</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1734344/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1734344/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,314,727,780,784,885,27924,27925,53791,53793</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&amp;idt=1757667$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/10227408$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Wahlström, Jan</creatorcontrib><creatorcontrib>Uller, Anna</creatorcontrib><creatorcontrib>Johannesson, Tonnie</creatorcontrib><creatorcontrib>Holmqvist, Deborah</creatorcontrib><creatorcontrib>Darnfors, Catarina</creatorcontrib><creatorcontrib>Vujic, Mihailo</creatorcontrib><creatorcontrib>Tonnby, Bernt</creatorcontrib><creatorcontrib>Hagberg, Bengt</creatorcontrib><creatorcontrib>Martinsson, Tommy</creatorcontrib><title>Congenital variant Rett syndrome in a girl with terminal deletion of chromosome 3p</title><title>Journal of medical genetics</title><addtitle>J Med Genet</addtitle><addtitle>J Med Genet</addtitle><description>A girl fulfilling four/five of six inclusion criteria and eight/nine of 11 supportive criteria for atypical Rett syndrome had a cytogenetic deletion of chromosome 3p, del(3)(pter→3p25.1∼25.2). 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identifier ISSN: 0022-2593
ispartof Journal of medical genetics, 1999-04, Vol.36 (4), p.343-345
issn 0022-2593
1468-6244
language eng
recordid cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_1734344
source Open Access: PubMed Central
subjects Biological and medical sciences
Child
Chromosome 3
Chromosome deletion
Chromosome Mapping
Chromosomes
Chromosomes, Human, Pair 3 - genetics
Congenital diseases
Cytogenetics
Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
deletion
Deoxyribonucleic acid
DNA
Female
Gene Deletion
Girls
Humans
In Situ Hybridization, Fluorescence
Medical sciences
Neurology
Rett syndrome
Rett Syndrome - genetics
Short Report
title Congenital variant Rett syndrome in a girl with terminal deletion of chromosome 3p
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