Characterization of double ring chromosome 4 mosaicism associated with bilateral hip dislocation, cortical dysgenesis, and epilepsy

American Journal of Medical Genetics, Part A

Volumn 149, Issue 12, 2009, Pages 2782-2787

  Soysal, Yasemin ^a   Balci, Sevim ^b   Hekimler, Kuyaş ^a   Liehr, Thomas ^c   Ewers, Elisabeth ^c   Schoumans, Jacqueline ^d   Bui, The Hung ^d   Içduygu, Fadime Mutlu ^a   Kosyakova, Nadezda ^c   Imirzalioǧlu, Necat ^a  

^a AFYON KOCATEPE UNIVERSITY SCHOOL OF MEDICINE   (Turkey)

^b HACETTEPE UNIVERSITY   (Turkey)

^c JENA UNIVERSITY HOSPITAL   (Germany)

^d KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

Array CGH analysis; Epilepsy; Hip dislocation; Mosaicism; Multicolor banding (MCB); Ring chromosome 4; Wolf hirschhorn syndrome (WHS)

Indexed keywords

ANAMNESIS; ARTICLE; CASE REPORT; CHILD; CHROMOSOME 4; CHROMOSOME ANALYSIS; CHROMOSOME DELETION 4; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; CORTICAL DYSGENESIS; CORTICAL DYSPLASIA; EPILEPSY; HIP DISLOCATION; HUMAN; KARYOTYPE 46,XY; MALE; MOSAICISM; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PHYSICAL EXAMINATION; PRESCHOOL CHILD; PRIORITY JOURNAL; RING CHROMOSOME;

ADULT; CEREBRAL CORTEX; CHROMOSOME BANDING; CHROMOSOMES, HUMAN, PAIR 4; COMPARATIVE GENOMIC HYBRIDIZATION; EPILEPSY; FEMALE; HIP DISLOCATION; HUMANS; INFANT; KARYOTYPING; MALE; MOSAICISM; PREGNANCY; RING CHROMOSOMES;

EID: 71949088791     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33069     Document Type: Article

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