Interstitial deletion 1q42 in a patient with agenesis of corpus callosum: Phenotype-genotype comparison to the 1q41q42 microdeletion suggests a contiguous 1q4 syndrome

American Journal of Medical Genetics, Part A

Volumn 152, Issue 4, 2010, Pages 987-993

  Filges, Isabel ^a   Röthlisberger, Benno ^b   Boesch, Nemya ^a   Weber, Peter ^a   Wenzel, Friedel ^a   Huber, Andreas R ^b   Heinimann, Karl ^a   Miny, Peter ^a  

^a UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^b CANTONAL HOSPITAL AARAU   (Switzerland)

Author keywords

Array CGH; Contiguous 1q4 syndrome; Corpus callosum agenesis; Developmental pathways; Interstitial deletion 1q42; Microdeletion syndrome

Indexed keywords

1Q4 DELETION SYNDROME; 1Q41Q42 DELETION SYNDROME; ARTICLE; CASE REPORT; CHROMOSOME 1Q; CHROMOSOME DELETION; CLEFT PALATE; CLINODACTYLY; CORPUS CALLOSUM AGENESIS; CYTOGENETICS; EMBRYO DEVELOPMENT; EPILEPSY; FEMALE; FRONTAL BOSSING; GENOTYPE; HUMAN; INFANT; MALFORMATION SYNDROME; MIDFACE HYPOPLASIA; NOSE MALFORMATION; PATENT DUCTUS ARTERIOSUS; PHENOTYPE; PRIORITY JOURNAL; SYNDROME;

ABNORMALITIES, MULTIPLE; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 1; COMPARATIVE GENOMIC HYBRIDIZATION; CORPUS CALLOSUM; DNA COPY NUMBER VARIATIONS; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; INFANT; INFANT, NEWBORN; NAILS, MALFORMED; PREGNANCY; SYNDROME;

EID: 77950396518     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33330     Document Type: Article

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