Complex chromosome rearrangements related 15q14 microdeletion plays a relevant role in phenotype expression and delineates a novel recurrent syndrome

Orphanet Journal of Rare Diseases

Volumn 6, Issue 1, 2011, Pages

  Roberti, Maria Cristina ^a   Surace, Cecilia ^a   Digilio, Maria Cristina ^a   D'Elia, Gemma ^a   Sirleto, Pietro ^a   Capolino, Rossella ^a   Lombardo, Antonietta ^a   Tomaiuolo, Anna Cristina ^a   Petrocchi, Stefano ^a   Angioni, Adriano ^a  

^a BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CHROMOSOME 15Q; CHROMOSOME DELETION; CHROMOSOME DELETION 15Q14; CHROMOSOME REARRANGEMENT; CLEFT PALATE; COMPARATIVE GENOMIC HYBRIDIZATION; COMPUTER ASSISTED TOMOGRAPHY; COPY NUMBER VARIATION; CYTOGENETICS; FACE MALFORMATION; FRONTAL LOBE; HUMAN; KYPHOSCOLIOSIS; LANGUAGE DISABILITY; MALE; MEDICAL HISTORY; MENTAL DEFICIENCY; PHENOTYPE; RARE DISEASE; SHORT STATURE; CHROMOSOME 15; CHROMOSOME ABERRATION; DANDY WALKER SYNDROME; GENE REARRANGEMENT; GENETICS; MULTIPLE MALFORMATION SYNDROME; MYOPIA;

ABNORMALITIES, MULTIPLE; CHROMOSOME ABERRATIONS; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 15; CLEFT PALATE; DANDY-WALKER SYNDROME; GENE REARRANGEMENT; HUMANS; MALE; MENTAL RETARDATION; MYOPIA; YOUNG ADULT;

EID: 79955112265     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-6-17     Document Type: Article

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