Molecular characterization of 22q11 deletion in a three-generation family with maternal transmission

American Journal of Medical Genetics

Volumn 108, Issue 4, 2002, Pages 319-321

  Iascone, Maria R ^a   Vittorini, Simona ^a   Sacchelli, Monica ^b   Spadoni, Isabella ^b   Simi, Paolo ^c   Giusti, Sandra ^c  

^a OSPEDALI RIUNITI   (Italy)

^b G PASQUINUCCI HOSPITAL   (Italy)

^c SANTA CHIARA HOSPITAL   (Italy)

Author keywords

Familial 22q11.2 deletion; STRP analysis

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME DELETION; DIGEORGE SYNDROME; FALLOT TETRALOGY; HUMAN; MOLECULAR GENETICS; NEWBORN; PALATOPHARYNGEAL INCOMPETENCE; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; SPEECH; TANDEM REPEAT; VELOCARDIOFACIAL SYNDROME;

ABNORMALITIES, MULTIPLE; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 22; EAR; FACE; FAMILY HEALTH; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; MENTAL RETARDATION; MICROSATELLITE REPEATS; PEDIGREE; SPEECH DISORDERS;

EID: 0036531911     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.10268     Document Type: Article

References (6)

1. Congenital heart disease
2. Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients
3. The genetic basis of conotruncal cardiac defects: The chromosome 22q11.2 deletion
4. Individual haploinsufficient loci and the complex phenotype of DiGeorge syndrome
5. Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: A european collaborative study
6. Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: Genomic organization and deletion endpoint analysis