Molecular cytogenetic characterization of a subtle interstitial del(3)(p25.3p26.2) in a patient with deletion 3p syndrome

American Journal of Medical Genetics

Volumn 109, Issue 2, 2002, Pages 133-138

  Cargile, Colyn B ^a,b   Goh, Denise L M ^a,d   Goodman, Barbara K ^a,b   Chen, Xiao Ning ^c   Korenberg, Julie R ^c   Semenza, Gregg L ^a   Thomas, George H ^a,b  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b KENNEDY KRIEGER INSTITUTE   (United States)

^c CEDARS SINAI MEDICAL CENTER   (United States)

^d NATIONAL UNIVERSITY OF SINGAPORE   (Singapore)

Author keywords

Chromosome 3; Deletion; FISH

Indexed keywords

ARTICLE; BACTERIAL ARTIFICIAL CHROMOSOME; CASE REPORT; CHILD; CHROMOSOME 3P; CHROMOSOME DELETION 3P; CLINICAL EXAMINATION; DEVELOPMENTAL DISORDER; FLUORESCENCE IN SITU HYBRIDIZATION; GROWTH RETARDATION; HUMAN; INTERSTITIAL CHROMOSOME DELETION; MALE; MALFORMATION SYNDROME; MICROCEPHALY; PRIORITY JOURNAL; PTOSIS; SEQUENCE TAGGED SITE; SYNDROME DELINEATION;

CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 3; CYTOGENETIC ANALYSIS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; KARYOTYPING; MALE; MICROSATELLITE REPEATS; SYNDROME;

EID: 0037156322     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.10323     Document Type: Article

References (20)

1. CALL gene is haploinsufficient in a 3p-syndrome patient
2. Precise localisation of 3q25 breakpoints in four patients with the 3p-syndrome
3. The phenotype of partial monosomy 3(p25-pter) observed in two unrelated patients
4. Detailed mapping of a congenital heart disease gene in chromosome 3p25
5. A second patient with partial deletion of the short arm of human chromosome 3: Karyotype 46,XY,del(3)(p25)
6. Complex FISH probes for the subtelomeric region of all human chromosome: Comparative hybridization of CEPH YACs to chromosomes of the Old World monkey Presbytis cristata and great apes
7. Identification of the von Hippel-Lindau disease tumor supressor gene
8. Clinical and molecular analyses of deletion 3p25-pter syndrome
9. Loss of the 3p25.3 band is critical in the manifestation of del(3p) syndrome: Karyotype-phenotype correlation in cases with deficiency of the distal portion of the short arm of chromosome 3
10. Molecular cloning of a cDNA for the human inositol 1,4,5-triphosphate receptor type I and the identification of a third alternatively spliced variant
11. Molecular genetic analysis of the 3p-syndrome
12. Fluorescence in situ hybridization with human chromosome-specific libraries: Detection of trisomy 21 and translocations of chromosome 4
13. Partial deletion of the short arm of chromosome 3: Further delineation of the 3p25-3pter syndrome
14. Terminal deletion of the short arm of chromosome 3, del(3pter-p25): A recognizable syndrome
15. Localization of the human caveolin-3 gene to the D3S18/D3S4163/D3S4539 locus (3p25) in close proximity to the human oxytocin receptor gene
16. Mother and son with deletion of 3p25-pter
17. Degenerate oligonucleotide-primed PCR: General amplification of target DNA by a single degenerate primer
18. A patient with a partial deletion of the short arm of chromosome 3
19. Partial deletion of the short arm of chromosome 3 (3p25-3pter)
20. Human inositol 1,4,5-triphosphate type 1 receptor, InsP3R1: Structure, function, regulation of expression and chromosomal localization