16p subtelomeric duplication: A clinically recognizable syndrome

European Journal of Human Genetics

Volumn 17, Issue 9, 2009, Pages 1135-1140

  Digilio, Maria Cristina ^a   Bernardini, Laura ^b   Capalbo, Anna ^b   Capolino, Rossella ^a   Gagliardi, Maria Giulia ^a   Marino, Bruno ^b   Novelli, Antonio ^b   Dallapiccola, Bruno ^b  

^a BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^b SAPIENZA UNIVERSITY OF ROME   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BLEPHAROPHIMOSIS; CARDIOVASCULAR RISK; CASE REPORT; CHILD; CHROMOSOME 16P; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; EAR MALFORMATION; EYEBROW; FACE MALFORMATION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; FOREHEAD; HUMAN; HYPOPLASIA; INFANT; LIP MALFORMATION; PALATE MALFORMATION; PRIORITY JOURNAL; PULMONARY HYPERTENSION; SHORT NOSE; SKIN APLASIA; TOOTH MALFORMATION;

ABNORMALITIES, MULTIPLE; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 16; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISABILITIES; FEMALE; GENE DUPLICATION; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; KARYOTYPING; MENTAL RETARDATION; SYNDROME; TELOMERE;

EID: 69249222747     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2009.14     Document Type: Article

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