Definition of 5q11.2 microdeletion syndrome reveals overlap with CHARGE syndrome and 22q11 deletion syndrome phenotypes

American Journal of Medical Genetics, Part A

Volumn 164, Issue 11, 2014, Pages 2843-2848

  Snijders Blok, Charlotte ^a   Corsten Janssen, Nicole ^b   Fitzpatrick, David R ^c   Romano, Corrado ^d   Fichera, Marco ^d,e   Vitello, Girolamo Aurelio ^d   Willemsen, Marjolein H ^a   Schoots, Jeroen ^a   Pfundt, Rolph ^a   van Ravenswaaij Arts, Conny M A ^b   Hoefsloot, Lies ^f   Kleefstra, Tjitske ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^c UNIVERSITY OF EDINBURGH   (United Kingdom)

^d OASI RESEARCH INSTITUTE IRCCS   (Italy)

^e UNIVERSITY OF CATANIA   (Italy)

^f ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

22q11.2 deletion syndrome; 5q11.2 microdeletion syndrome; CHARGE syndrome; Choanal atresia; DHX29; Intellectual disability

Indexed keywords

5Q11.2 MICRODELETION SYNDROME; ADULT; AGGRESSION; ARTICLE; AUTISM; BEHAVIOR DISORDER; CHILD; CHOANA ATRESIA; CHROMOSOME DELETION 22Q11; CHROMOSOME DELETION 5; CLINICAL ARTICLE; CONGENITAL HEART MALFORMATION; DEVELOPMENTAL DISORDER; DHX29 GENE; EXTERNAL EAR MALFORMATION; FACE DYSMORPHIA; FEMALE; GENOTYPE PHENOTYPE CORRELATION; GROWTH RETARDATION; HIRSUTISM; HUMAN; INFANT; INTELLECTUAL IMPAIRMENT; LANGUAGE DELAY; MALE; MALE GENITAL TRACT MALFORMATION; NEWBORN; PALATOPHARYNGEAL INCOMPETENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SEIZURE; SHORT STATURE; STEREOTYPY; SYNDROME CHARGE; YOUNG ADULT; 22Q11 DELETION SYNDROME; ADOLESCENT; CHARGE SYNDROME; CHROMOSOMAL MAPPING; CHROMOSOME 5; CHROMOSOME DELETION; CHROMOSOME DISORDERS; COMPARATIVE GENOMIC HYBRIDIZATION; DIFFERENTIAL DIAGNOSIS; FACIES; GENETIC ASSOCIATION STUDY; GENETICS; PHENOTYPE;

22Q11 DELETION SYNDROME; ADOLESCENT; ADULT; CHARGE SYNDROME; CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOME DISORDERS; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 5; COMPARATIVE GENOMIC HYBRIDIZATION; DIAGNOSIS, DIFFERENTIAL; FACIES; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; INFANT; MALE; PHENOTYPE; YOUNG ADULT;

EID: 84910594695     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36680     Document Type: Article

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