Distal 22q11.2 microduplication encompassing the BCR gene

American Journal of Medical Genetics, Part A

Volumn 146, Issue 23, 2008, Pages 3075-3081

  Descartes, Maria ^a   Franklin, Judy ^a   De Ståhl, Teresita Diaz ^b   Piotrowski, Arkadiusz ^a   Bruder, Carl E G ^a   Dumanski, Jan P ^a   Carroll, Andrew J ^a   Mikhail, Fady M ^a,c  

^a UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

^b UPPSALA UNIVERSITY   (Sweden)

^c ALEXANDRIA UNIVERSITY   (Egypt)

Author keywords

Array CGH; BCR gene; Developmental delay; Distal 22q11.2; Learning problems; Mental retardation; Novel microduplication

Indexed keywords

BREAKPOINT CLUSTER REGION PROTEIN;

ANAMNESIS; ARTICLE; BONE AGE; BRAIN MALFORMATION; CASE REPORT; CEREBROSPINAL FLUID; CHROMOSOME 22Q; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CLINICAL FEATURE; COMMUNICATION SKILL; COMPARATIVE GENOMIC HYBRIDIZATION; DAILY LIFE ACTIVITY; ECHOCARDIOGRAPHY; ECHOGRAPHY; FAILURE TO THRIVE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; FRAGILE X SYNDROME; FRONTAL BOSSING; GROWTH CURVE; GROWTH RETARDATION; HEARING TEST; HUMAN; INHERITANCE; LANGUAGE DISABILITY; MACROCEPHALY; NUCLEAR MAGNETIC RESONANCE IMAGING; PALPEBRAL FISSURE ANOMALY; PATERNALISM; PHYSICAL EXAMINATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SHORT NOSE; SOCIALIZATION; TELOMERE;

BRAIN; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 22; DEVELOPMENTAL DISABILITIES; FAILURE TO THRIVE; FEMALE; GENE DELETION; GENE DUPLICATION; HUMANS; MENTAL RETARDATION; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PROTO-ONCOGENE PROTEINS C-BCR; REPETITIVE SEQUENCES, NUCLEIC ACID; SYNDROME; TELOMERE;

EID: 57149093239     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32572     Document Type: Article

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