Microdeletion 19p13.2 in an almost 5-year-old boy

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 5, 2012, Pages 1190-1194

  Haberlandt, Edda ^a   Spreiz, Ana ^a   Sigl, Sara Baumgartner ^a   Janetschek, Carolin ^a   Röthlisberger, Benno ^b   Zotter, Sibylle ^a   Rostasy, Kevin ^a   Zschocke, Johannes ^a   Kotzot, Dieter ^a  

^a INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^b CANTONAL HOSPITAL AARAU   (Switzerland)

Author keywords

Chromosomal rearrangements; Intellectual disability; Microdeletion 19p13.2

Indexed keywords

ARTICLE; ATONIC SEIZURE; CASE REPORT; CHILD; CHROMOSOME ANALYSIS; CHROMOSOME BREAKAGE; CHROMOSOME DELETION; CHROMOSOME REARRANGEMENT; CLINICAL FEATURE; CRANIOFACIAL MALFORMATION; DEVELOPMENTAL DISORDER; DNA MICROARRAY; ECHOCARDIOGRAPHY; FEBRILE CONVULSION; GENE DELETION; GRAND MAL SEIZURE; HEART ATRIUM SEPTUM DEFECT; HOMOLOGOUS RECOMBINATION; HUMAN; INTELLECTUAL IMPAIRMENT; KARYOTYPE; MALE; MICRODELETION 19P13.2; NEUROPSYCHOLOGICAL TEST; NON ALLELIC HOMOLOGOUS RECOMBINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; TONIC CLONIC SEIZURE;

CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 19; GENOMICS; HOMOLOGOUS RECOMBINATION; HUMANS; INTELLECTUAL DISABILITY; MALE; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; SEIZURES;

EID: 84859967933     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35291     Document Type: Article

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