Inverted duplication with deletion: First interstitial case suggesting a novel undescribed mechanism of formation

American Journal of Medical Genetics, Part A

Volumn 164, Issue 12, 2014, Pages 3180-3186

  Milosevic, J ^a   El Khattabi, L ^a,b   Roubergue, A ^c   Coussement, A ^a   Doummar, D ^d   Cuisset, L ^a,b   Le Tessier, D ^a   Flageul, B ^e   Viot, G ^a   Lebbar, A ^a   Dupont, J M ^a,b  

^a Institut Cochin   (France)

^b INSTITUT COCHIN   (France)

^c HÔPITAL SAINT ANTOINE   (France)

^d ARMAND TROUSSEAU HOSPITAL   (France)

^e SAINT LOUIS HOSPITAL   (France)

Author keywords

Array CGH; Chromosome abnormality; Epilepsy; Inverted duplication with deletion; Mental retardation

Indexed keywords

ANTICONVULSIVE AGENT; VALPROIC ACID;

ABSENCE; ADULT; ARTICLE; ASTIGMATISM; BRAIN VENTRICLE DILATATION; CASE REPORT; CHROMOSOME 1P; CHROMOSOME DELETION 8P; CLINICAL EXAMINATION; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISORDER; EPILEPSY; FACE DYSMORPHIA; FEBRILE CONVULSION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DUPLICATION; GENE REPLICATION; HUMAN; HYPOTELORISM; INTELLECTUAL IMPAIRMENT; INTELLIGENCE QUOTIENT; INTERSTITIAL CHROMOSOME DELETION; INTERSTITIAL INVERTED DUPLICATION; KARYOTYPE; LANGUAGE DISABILITY; LIMB MALFORMATION; MULTIDRUG RESISTANCE; MYOCLONUS SEIZURE; MYOPIA; NOSE MALFORMATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PALPEBRAL FISSURE ANOMALY; PRIORITY JOURNAL; SEIZURE; SINGLE NUCLEOTIDE POLYMORPHISM; SKIN LUPUS ERYTHEMATOSUS; TELOMERE; TONIC CLONIC SEIZURE; UNIPARENTAL DISOMY; CHROMOSOME 1; CHROMOSOME ABERRATION; GENETICS; KARYOTYPING; MULTIPLE MALFORMATION SYNDROME; PATHOLOGY;

ABNORMALITIES, MULTIPLE; ADULT; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 1; COMPARATIVE GENOMIC HYBRIDIZATION; EPILEPSY; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INTELLECTUAL DISABILITY; KARYOTYPING; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84911061592     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36777     Document Type: Article

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