Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes

Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes

Source :

• Journal of Medical Genetics [ 0022-2593 ] ; 2010-05.

Descripteurs français

• Pascal (Inist)
  • Génétique, Homme, Microdélétion, Phénotype, Symptomatologie.
• Wicri :
  • topic : Génétique, Homme.

English descriptors

• KwdEn :
  • Abnormality, Acgh, Alusx, Aluy, Autism, Behavioural problems, Birth head circumference, Birth length, Birth weight, Breakpoint, Breakpoint regions, Breakpoints, Callosum, Chromosome, Clinodactyly, Common features, Corpus callosum, Critical region, Deletion, Developmental delay, Duplication, Dysmorphic, Facial, Facial features, Fostes, Genet, Genetics, Genome, Genomic, Genomic hybridisation, Genomic rearrangements, Genomic region, Growth restriction, Growth retardation, Gure, Homology, Homology nhej, Human, Hybridisation, Interstitial, Interstitial deletion, Interstitial duplication, Lissencephaly, Lissencephaly sequence, Lupski, Malformation, Maxillary, Maxillary prominence, Mental retardation, Microarray, Microarray analysis, Microdeletion, Microdeletion syndrome, Microdeletions, Microduplication, Microduplications, Milleredieker syndrome, Mlpa, Motor delay, Motor function, Nasal bridge, Nger, Nger clinodactyly, Nhej, Novel microdeletions, Oligonucleotide, Original article, Palpebral, Parental samples, Paternal, Paternal sample, Perivascular, Phenotype, Phenotypic features, Postnatal, Postnatal growth retardation, Prominent cupid, Rearrangement, Repetitive elements, Retardation, Single gene, Speech delay, Sreenath nagamani, Ssures, Subtle malformations, Symptomatology, Syndrome, Terminal deletion, Vermillion, White matter, White matter abnormalities, Wide perivascular spaces, Ywhae.
• Teeft :
  • Abnormality, Acgh, Alusx, Aluy, Autism, Behavioural problems, Birth head circumference, Birth length, Birth weight, Breakpoint, Breakpoint regions, Breakpoints, Callosum, Chromosome, Clinodactyly, Common features, Corpus callosum, Critical region, Deletion, Developmental delay, Duplication, Dysmorphic, Facial, Facial features, Fostes, Genet, Genome, Genomic, Genomic hybridisation, Genomic rearrangements, Genomic region, Growth restriction, Growth retardation, Gure, Homology, Homology nhej, Hybridisation, Interstitial, Interstitial deletion, Interstitial duplication, Lissencephaly, Lissencephaly sequence, Lupski, Malformation, Maxillary, Maxillary prominence, Mental retardation, Microarray, Microarray analysis, Microdeletion, Microdeletion syndrome, Microdeletions, Microduplication, Microduplications, Milleredieker syndrome, Mlpa, Motor delay, Motor function, Nasal bridge, Nger, Nger clinodactyly, Nhej, Novel microdeletions, Oligonucleotide, Original article, Palpebral, Parental samples, Paternal, Paternal sample, Perivascular, Phenotype, Phenotypic features, Postnatal, Postnatal growth retardation, Prominent cupid, Rearrangement, Repetitive elements, Retardation, Single gene, Speech delay, Sreenath nagamani, Ssures, Subtle malformations, Syndrome, Terminal deletion, Vermillion, White matter, White matter abnormalities, Wide perivascular spaces, Ywhae.

Abstract

• https://api.istex.fr/document/B5125278CBE42DCC31D5F32E4159122DC1F96B60/fulltext/pdf

Affiliations:

• Australie, Belgique, France, Pays-Bas, Suède, États-Unis
• Groningue (province), Gueldre, Géorgie (États-Unis), Massachusetts, Provence-Alpes-Côte d'Azur, Svealand, Victoria (État)
• Groningue, Marseille, Melbourne, Nimègue, Stockholm
• Université de Melbourne, Université de la Méditerranée

Links toward previous steps (curation, corpus...)

• to stream Istex, to step Corpus: 002234
• to stream Istex, to step Curation: 002234
• to stream Istex, to step Checkpoint: 000A04
• to stream Main, to step Merge: 007629
• to stream PascalFrancis, to step Corpus: 002684
• to stream PascalFrancis, to step Curation: 003902
• to stream PascalFrancis, to step Checkpoint: 002393
• to stream Main, to step Merge: 007E61
• to stream Main, to step Curation: 007095

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