About: FMR1 Gene Expansion, Large Deletion of Xp, and Skewed X-Inactivation in a Girl With Mental Retardation and Autism

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About: FMR1 Gene Expansion, Large Deletion of Xp, and Skewed X-Inactivation in a Girl With Mental Retardation and Autism Goto Sponge NotDistinct Permalink

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rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
Description	We describe a girl with mild facial anomalies, mild mental retardation, and atypical autism with a remarkable behavioral phenotype of persistent anger, aggression, and dysphoria. The occurrence of late-onset tremor and premature ovarian failure in the maternal branch of the family pointed to a possible defect in the FMR1 gene. Indeed, the patient carried a full FMR1 mutation. Unexpectedly, both alleles of the gene were almost completely methylated. Cytogenetic examination of the patient revealed in addition a large de novo deletion in band Xp22 on one of her X chromosomes. The deletion was fine mapped using oligonucleotide array CGH, and its breakpoints were localized using sequencing. The size of the deletion was about 17.4 Mb, and it contained more than 90 protein-coding genes. Microsatellite analysis indicated paternal origin of the aberrant chromosome. The large rearrangement was the most probable cause of the X-inactivation skewing, thus explaining the methylation of not only the expanded We describe a girl with mild facial anomalies, mild mental retardation, and atypical autism with a remarkable behavioral phenotype of persistent anger, aggression, and dysphoria. The occurrence of late-onset tremor and premature ovarian failure in the maternal branch of the family pointed to a possible defect in the FMR1 gene. Indeed, the patient carried a full FMR1 mutation. Unexpectedly, both alleles of the gene were almost completely methylated. Cytogenetic examination of the patient revealed in addition a large de novo deletion in band Xp22 on one of her X chromosomes. The deletion was fine mapped using oligonucleotide array CGH, and its breakpoints were localized using sequencing. The size of the deletion was about 17.4 Mb, and it contained more than 90 protein-coding genes. Microsatellite analysis indicated paternal origin of the aberrant chromosome. The large rearrangement was the most probable cause of the X-inactivation skewing, thus explaining the methylation of not only the expanded (en)
Title	FMR1 Gene Expansion, Large Deletion of Xp, and Skewed X-Inactivation in a Girl With Mental Retardation and Autism FMR1 Gene Expansion, Large Deletion of Xp, and Skewed X-Inactivation in a Girl With Mental Retardation and Autism (en)
skos:prefLabel	FMR1 Gene Expansion, Large Deletion of Xp, and Skewed X-Inactivation in a Girl With Mental Retardation and Autism FMR1 Gene Expansion, Large Deletion of Xp, and Skewed X-Inactivation in a Girl With Mental Retardation and Autism (en)
skos:notation	RIV/00216208:11130/10:6218!RIV11-MZ0-11130___
http://linked.open...avai/riv/aktivita	I P Z
http://linked.open...avai/riv/aktivity	I, P(NR9457), Z(MSM0021620806), Z(MZ0FNM2005)
http://linked.open...iv/cisloPeriodika	5
http://linked.open...vai/riv/dodaniDat	2011
http://linked.open...aciTvurceVysledku	Hrdlička, Michal Havlovicová, Markéta Sedláček, Zdeněk Vlčková, Markéta Mušová, Zuzana Vážna, Alžbeta
http://linked.open.../riv/druhVysledku	J - Článek v odborném periodiku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Univerzita Karlova v Praze / 2. lékařská fakulta
http://linked.open...dnocenehoVysledku	259468
http://linked.open...ai/riv/idVysledku	RIV/00216208:11130/10:6218
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	fragile X syndrome; Xp deletion; array CGH; skewed X-inactivation; mental retardation; autism; full mutation; females; chromosome; phenotype; microphthalmia (en)
http://linked.open.../riv/klicoveSlovo	autism chromosome mental retardation phenotype females microphthalmia Xp deletion array CGH fragile X syndrome full mutation skewed X-inactivation
http://linked.open...odStatuVydavatele	US - Spojené státy americké
http://linked.open...ontrolniKodProRIV	[11B8AC917318]
http://linked.open...i/riv/nazevZdroje	American Journal of Medical Genetics. Part A
http://linked.open...in/vavai/riv/obor	EB
http://linked.open...ichTvurcuVysledku	6 (xsd:int)
http://linked.open...cetTvurcuVysledku	8 (xsd:int)
http://linked.open...vavai/riv/projekt	Optimising molecular cytogenetic and molecular genetic diagnostics of chromosomal aberrations in patients with mental retardation
http://linked.open...UplatneniVysledku	2010
http://linked.open...v/svazekPeriodika	152A
http://linked.open...iv/tvurceVysledku	Hrdlička, Michal Sedláček, Zdeněk Novotná, Drahuše Vlčková, Markéta Mušová, Zuzana Havlovicová, Markéta Vážna, Alžběta Dvorakova, L.
http://linked.open...ain/vavai/riv/wos	000277739800025
http://linked.open...n/vavai/riv/zamer	Molekulární biologie a patologie buňky za normy a u vybraných klinicky závažných patologických procesů Zdokonalení časné diagnostiky, prevence a léčby těžkých vrozených vývojových vad a chorob geneticky podmíněných či s genetickou dispozicí v prenatální a postnatální fázi vývoje
issn	1552-4825
number of pages	5 (xsd:int)
http://localhost/t...ganizacniJednotka	11130

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