De novo 6.9Mb interstitial deletion on chromosome 4q31.1-q32.1 in a girl with severe speech delay and dysmorphic features

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 4, 2012, Pages 882-887

  Fabretto, Antonella ^a   Rocca, Maria Santa ^a   Perrone, Maria Dolores ^a   Skabar, Aldo ^a   Pecile, Vanna ^a   Gasparini, Paolo ^a  

^a INSTITUTE FOR MATERNAL AND CHILD HEALTH IRCCS BURLO GAROFOLO   (Italy)

Author keywords

Del(4)(q31.3 32.1); Dysfibrinogenemia; SNPs Array; Speech delay; TDO2

Indexed keywords

AMBLYOPIA; ARTICLE; CASE REPORT; CHILD; CHROMOSOME 4Q; CHROMOSOME DELETION; CLUBFOOT; COPY NUMBER VARIATION; CORNEA DISEASE; DEVELOPMENTAL DISORDER; DYSFIBRINOGENEMIA; FACE DYSMORPHIA; FEMALE; HUMAN; JOINT LAXITY; MOTOR DYSFUNCTION; MUSCLE HYPOTONIA; PARTIAL THROMBOPLASTIN TIME; PRESCHOOL CHILD; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SPEECH DISORDER; STRABISMUS;

ABNORMALITIES, MULTIPLE; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 4; DEVELOPMENTAL DISABILITIES; FEMALE; GENOTYPE; HUMANS; LANGUAGE DEVELOPMENT DISORDERS; PHENOTYPE; SEQUENCE DELETION;

EID: 84859005395     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35239     Document Type: Article

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