Familial deletion of (8)(q24.13q24.22) associated with a normal phenotype

Clinical Genetics

Volumn 60, Issue 5, 2001, Pages 371-373

  Batanian, J R ^a,b   Morris, K ^a   Ma, E ^b   Huang, Y ^b   McComb, J ^c  

^a SAINT LOUIS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b Cardinal Glennon Hospital   (United States)

^c NONE

Author keywords

Chromosome 8; Chromosome deletion; Familial chromosome deletion

Indexed keywords

MYC PROTEIN;

ADULT; AMNION CELL; ARTICLE; BLOOD CELL; CASE REPORT; CHONDRODYSPLASIA; CHROMOSOME 8Q; CHROMOSOME ANALYSIS; CHROMOSOME PAINTING; COSMID; FAMILIAL DISEASE; FEMALE; FETUS; FLUORESCENCE IN SITU HYBRIDIZATION; GENE LIBRARY; GENETIC ASSOCIATION; HUMAN; INTERSTITIAL CHROMOSOME DELETION; MOLECULAR CLONING; MOTHER; ONCOGENE C MYC; PHENOTYPE; PRIORITY JOURNAL; SPONTANEOUS ABORTION; STILLBIRTH; ULTRASOUND;

ADULT; CHROMOSOMES, HUMAN, PAIR 8; FEMALE; FETAL DEATH; GENE DELETION; HUMANS; PHENOTYPE; PREGNANCY;

EID: 0035182551     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2001.600509.x     Document Type: Article

References (16)

1. The tricho-rhino-phalangeal syndromes: Frequency and parental origin of 8q deletions
2. Molecular definition of the shortest region of deletion overlap in the Langer-Giedion syndrome
3. Myc oncogenes: Activation and amplification
4. A c-myc gene variant without exon 1 and with an abnormal methylation pattern inherited in a woman with no evidence of malignancy
5. The tricho-rhino-phalangeal syndrome(s): Chromosome 8 long arm deletion: Is there a shortest region of overlap between reported cases? TRP I and TRP II syndromes: Are they separate entities?
6. Deletion of the long arm of chromosome 8-a recognizable syndrome?
7. The critical segment of the Langer-Giedion syndrome: 8q24.11-q24.12
8. A transmitted deletion of 2q13 to 2q14.1 causes no phenotypic abnormalities
9. Mother to son transmission of Del(1) (q42.1q42.3)
10. Del(3)(p25.3) without phenotypic effect
11. Molecular analysis of an unbalanced deletion of the short arm of chromosome 5 that produces no phenotype
12. Molecular cytogenetics of a de novo interstitial deletion of chromosome arm 6q in a developmentally normal girl
13. Interstitial deletions without phenotypic effect: Prenatal diagnosis of a new family and brief review
14. Deletion of band 13q21 is compatible with normal phenotype
15. Heritable deletion of band 16q21 with normal phenotype: Relationship to late replicating DNA
16. Monosomy 8q: Prenatal diagnosis and autopsy findings