Chromosome 2p15p16.1 microdeletion syndrome: 2.5 Mb deletion in a patient with renal anomalies, intractable seizures and a choledochal cyst

European Journal of Medical Genetics

Volumn 55, Issue 8-9, 2012, Pages 485-489

  Hucthagowder, Vishwanathan ^a   Liu, Ta Chiang ^a   Paciorkowski, Alex R ^b   Thio, Liu Lin ^c   Keller, Martin S ^a   Anderson, Christopher D ^a   Herman, Thomas ^c   Dehner, Louis P ^a   Grange, Dorothy K ^a,c   Kulkarni, Shashikant ^a,c,d  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF WASHINGTON   (United States)

^c ST LOUIS CHILDREN S HOSPITAL   (United States)

^d USA   (United States)

Author keywords

2p15p16.1; Choledochal cyst; Microdeletion syndrome; Renal anomalies; Seizures; SNP array

Indexed keywords

AMNIOCENTESIS; ARTICLE; CASE REPORT; CHROMOSOME 2P; CHROMOSOME 2P15P16.1 MICRODELETION SYNDROME; CLINICAL FEATURE; COMMON BILE DUCT CYST; CYTOGENETICS; ELECTROENCEPHALOGRAM; FAMILY HISTORY; FEMALE; FOCAL EPILEPSY; GASTROSTOMY; HAPLOINSUFFICIENCY; HEPATOJEJUNOSTOMY; HUMAN; HYDRONEPHROSIS; HYPSARRHYTHMIA; INFANT; INTERSTITIAL CHROMOSOME DELETION; INTRACTABLE EPILEPSY; INTRAUTERINE GROWTH RETARDATION; KIDNEY CALCIFICATION; KIDNEY MALFORMATION; KIDNEY SCINTISCANNING; MICROCEPHALY; MYOCLONUS EPILEPSY; NUCLEAR MAGNETIC RESONANCE IMAGING; TRACHEOSTOMY; ULTRASOUND;

ABNORMALITIES, MULTIPLE; CHILD, PRESCHOOL; CHOLEDOCHAL CYST; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 2; DEVELOPMENTAL DISABILITIES; FEMALE; HUMANS; KIDNEY; SEIZURES; SYNDROME;

EID: 84864133302     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2012.04.003     Document Type: Article

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