Inv dup(22), del(22) (q11) and r(22) in the father of a child with DiGeorge syndrome

European Journal of Human Genetics

Volumn 8, Issue 10, 2000, Pages 801-804

  Bergman, A ^a   Blennow, E ^a  

^a KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

22q11; Cat eye syndrome; Deletion; DiGeorge syndrome; FISH; Inv dup(22); Ring chromosome

Indexed keywords

AORTA ARCH ANOMALY; ARTICLE; CASE REPORT; CELL DIVISION; CELL LINE; CHROMOSOME 21Q; CHROMOSOME 22; CHROMOSOME 22Q; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOME INVERSION; CLINICAL FEATURE; DIGEORGE SYNDROME; FACE DYSMORPHIA; FATHER; FLUORESCENCE IN SITU HYBRIDIZATION; GENE REARRANGEMENT; GENETIC LINKAGE; GENETIC RECOMBINATION; HEART VENTRICLE SEPTUM DEFECT; HUMAN; HYPOCALCEMIA; INHERITANCE; KARYOTYPE; MALE; MEIOSIS; MITOSIS; NEWBORN; PATHOGENESIS; PRIORITY JOURNAL; SEX CHROMOSOME MOSAICISM; SISTER CHROMATID; SUPERNUMERARY CHROMOSOME;

ADULT; CASE REPORT; CELL LINE; CHILD; CHROMOSOME BANDING; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 22; DIGEORGE SYNDROME; GENE DUPLICATION; HUMAN; IN SITU HYBRIDIZATION, FLUORESCENCE; INVERSION (GENETICS); MALE; MOSAICISM; RECOMBINATION, GENETIC; SUPPORT, NON-U.S. GOV'T;

EID: 0033772933     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200525     Document Type: Article

References (17)

1. DiGeorge syndrome: Part of CATCH 22
2. The 'cat eye syndrome': Dicentric small marker chromosome probably derived from a no: 22 (tetrasomy 22pter to q11) associated with a characteristic phenotype
3. A molecular and FISH approach to determining karyotype and phenotype correlations in six patients with supernumerary marker(22) chromosomes
4. Cat eye syndrome chromosome breakpoint clustering: Identification of two intervals also associated with 22q11 deletion syndrome breakpoints
5. Characterization of supernumerary ring marker chromosomes by fluorescence in situ hybridization (FISH)
6. A common molecular basis for rearrangement disorders on chromosome 22q11
7. Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome
8. Low-copy-number repeat sequences flank the DiGeorge/velocardio-facial syndrome loci at 22q11
9. Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome
10. Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17
11. Preferential derivation of abnormal human G-group-like chromosomes from chromosome 15
12. The origin and behavior of two isodicentric bisatellited chromosomes
13. The mechanisms involved in formation of deletions and duplications of 15q11-q13
14. Supernumerary inv dup(15) in a patient with Angelman syndrome and a deletion of 15q11-q13
15. Molecular cytogenetic analysis of inv dup(15) chromosomes, using probes specific for the Prader-Willi/Angelman syndrome region: Clinical implications
16. Simultaneous formation of inv dup(15) and dup(15q) in a girl with developmental delay: Origin of the abnormal chromosomes
17. Molecular characterization of the marker chromosome associated with cat eye syndrome