Distal del(4) (q33) syndrome: Detailed clinical presentation and molecular description with array-CGH

European Journal of Medical Genetics

Volumn 51, Issue 1, 2008, Pages 61-67

  Kitsiou Tzeli, Sofia ^a   Sismani, Carolina ^b   Koumbaris, George ^b   Ioannides, Marios ^b   Kanavakis, Emmanuel ^a   Kolialexi, Angeliki ^a   Mavrou, Ariadni ^a   Touliatou, Vasiliki ^a   Patsalis, Philippos C ^b  

^a UNIVERSITY OF ATHENS   (Greece)

^b CYPRUS INSTITUTE OF NEUROLOGY AND GENETICS   (Cyprus)

Author keywords

Array CGH; Cytogenetic aberration; Distal 4q deletion syndrome; Phenotype genotype correlation

Indexed keywords

AORTA SUPRAVALVULAR STENOSIS; ARTICLE; CASE REPORT; CHROMOSOME DELETION 4; CHROMOSOME MAP; CLEFT PALATE; CLINODACTYLY; COMPARATIVE GENOMIC HYBRIDIZATION; ECHOCARDIOGRAPHY; EXTERNAL EAR MALFORMATION; FEEDING DISORDER; FLUORESCENCE IN SITU HYBRIDIZATION; GENOME; HUMAN; HYPERTELORISM; HYPOSPADIAS; INGUINAL HERNIA; LONG PHILTRUM; LOW SET EAR; MALE; MALFORMATION SYNDROME; MICROGNATHIA; MUSCLE HYPOTONIA; NOSE MALFORMATION; PRESCHOOL CHILD; PROGNOSIS; PROMINENT EAR; PSYCHOMOTOR RETARDATION; SYSTOLIC HEART MURMUR; TELOMERE; UPPER LIP;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 4; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; MALE; MENTAL RETARDATION; MICROARRAY ANALYSIS; NUCLEIC ACID HYBRIDIZATION; SYNDROME;

EID: 38549151000     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2007.09.004     Document Type: Article

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