Siblings with phenotypic overlap with Toriello-Carey syndrome and complex cytogenetic imbalances including 3q29 microduplication and 6p25 microdeletion: Review of the literature and additional evidence for genetic heterogeneity

American Journal of Medical Genetics, Part A

Volumn 152 A, Issue 12, 2010, Pages 3068-3073

  McGoey, Robin ^a   Varma, Aditi ^a   Lacassie, Yves ^a  

^a LOUISIANA STATE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

ACGH; Corpus callosum hypoplasia; Cytogenetic imbalance; FISH; Microdeletion 6p25; Microduplication 3q29; Reciprocal translocation; Toriello Carey syndrome

Indexed keywords

ADOLESCENT; ARTICLE; CASE REPORT; CHILD; CHROMOSOME ABERRATION; COMPARATIVE GENOMIC HYBRIDIZATION; COMPUTER ASSISTED TOMOGRAPHY; CONGENITAL MALFORMATION; COPY NUMBER VARIATION; CORPUS CALLOSUM; CYTOGENETICS; DEMYELINATION; ECHOCARDIOGRAPHY; FACE DYSMORPHIA; FAMILY HISTORY; FEMALE; GENE DUPLICATION; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC SCREENING; GESTATIONAL AGE; HALLUX VALGUS; HEAD CIRCUMFERENCE; HUMAN; HYDROCEPHALUS; INFANT; KARYOTYPE; KYPHOSCOLIOSIS; MALE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SIBLING; TORIELLO CAREY SYNDROME;

ABNORMALITIES, MULTIPLE; ADOLESCENT; CHILD; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOMES, HUMAN, PAIR 3; CHROMOSOMES, HUMAN, PAIR 6; CORPUS CALLOSUM; CRANIOFACIAL ABNORMALITIES; FATHERS; FEMALE; GENETIC HETEROGENEITY; HEART DEFECTS, CONGENITAL; HUMANS; MALE; MENTAL RETARDATION; PHENOTYPE; SIBLINGS; SYNDROME; TRANSLOCATION, GENETIC;

EID: 78649644919     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33721     Document Type: Article

References (12)

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