Delineation of a 2q deletion in a girl with dysmorphic features and epilepsy

American Journal of Medical Genetics, Part A

Volumn 140 A, Issue 7, 2006, Pages 764-768

  Langer, Sabine ^a,b   Geigl, Jochen B ^a,b   Wagenstaller, Janine ^a,b   Lederer, Gaby ^a,b   Hempel, Maja ^c   Daumer Haas, Cornelia ^c   Leifheit, Hans Jürgen ^a   Speicher, Michael R ^a,b,d  

^a TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^b INSTITUTE OF EPIDEMIOLOGY   (Germany)

^c Frauenärtze und Humangenetiker   (Germany)

^d MEDICAL UNIVERSITY OF GRAZ   (Austria)

Author keywords

Deletion 2q24.1 2q31.1; Ion channel genes; Multiplex FISH (M FISH); Oligonucleotide array; Seizures

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 2Q; CHROMOSOME DELETION; CHROMOSOME DELETION 2Q; CHROMOSOME MAP; CHROMOSOME TRANSLOCATION 2; CLINICAL FEATURE; DNA MICROARRAY; EPILEPSY; FACE DYSMORPHIA; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; NEWBORN; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; CHROMOSOME 2; CHROMOSOME BANDING PATTERN; CONGENITAL MALFORMATION; EAR; FATALITY; GENETICS; GENOME; KARYOTYPING; METHODOLOGY; MULTIPLE MALFORMATION SYNDROME; NUCLEIC ACID HYBRIDIZATION; PATHOLOGY; PRESCHOOL CHILD;

ABNORMALITIES, MULTIPLE; CHILD, PRESCHOOL; CHROMOSOME BANDING; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 2; EAR; EPILEPSY; FATAL OUTCOME; FEMALE; GENOME, HUMAN; HUMANS; KARYOTYPING; NUCLEIC ACID HYBRIDIZATION;

EID: 33646933347     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31141     Document Type: Article

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