Higher frequency of uncommon 1.5-2 Mb deletions found in familial cases of 22q11.2 deletion syndrome

American Journal of Medical Genetics

Volumn 136 A, Issue 1, 2005, Pages 71-75

  Fernández, Luis ^a   Lapunzina, Pablo ^a   López Pajares, Isidora ^a   Rodríguez Criado, Germán ^b   García Guereta, Luis ^a   Pérez, Jesús ^a   Quero, José ^a   Delicado, Alicia ^a  

^a HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

^b HOSPITAL UNIVERSITARIO VIRGEN DEL ROCÍO   (Spain)

Author keywords

22q11.2 microdeletion syndrome; Atypical deletion; Familial cases; Microdeletion

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; CHROMOSOME 22Q; CHROMOSOME DELETION; FAMILIAL DISEASE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE FREQUENCY; GENETIC POLYMORPHISM; GENOTYPE; HUMAN; HUMAN CELL; INFANT; INHERITANCE; MAJOR CLINICAL STUDY; MALE; NEWBORN; PHENOTYPE; PRIORITY JOURNAL; SOCIAL PSYCHOLOGY;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; AGED; CHILD; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 22; FACE; FAMILY HEALTH; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT, NEWBORN; MALE; MENTAL RETARDATION; MICROSATELLITE REPEATS; PALATE; SYNDROME; TETRALOGY OF FALLOT;

EID: 21644463843     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30756     Document Type: Article

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