Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients

American Journal of Human Genetics

Volumn 58, Issue 5, 1996, Pages 998-1007

  Juyal, Ramesh C ^b   Figuera, Luis E ^b   Hauge, Xueya ^b   Elsea, Sarah H ^b   Lupski, James R ^b   Greenberg, Frank ^b   Baldini, Antonio ^b   Patel, Pragna I ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ARTICLE; CHROMOSOME 17P; CHROMOSOME DELETION; CONGENITAL MALFORMATION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE MAPPING; GENOTYPE; HUMAN; HUMAN CELL; HYBRID CELL; MAJOR CLINICAL STUDY; MALE; MENTAL RETARDATION MALFORMATION SYNDROME; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SOUTHERN BLOTTING;

ABNORMALITIES, MULTIPLE; CHROMOSOME BANDING; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 17; FEMALE; GENE DELETION; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; MENTAL RETARDATION; SYNDROME;

EID: 0029978246     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (5)

1. Allen WP, Phelan MC, Stevenson RE (1991) Smith-Magenis syndrome: report of five patients. Proc Greenwood Genet Cent 10:18-22
2. Anderson MA, Gusella JR (1984) The use of cyclosporin A in establishing EBV-transformed human lymphoblastoid cell lines. In Vitro 20:856-858
3. Ballabio A, Bardoni B, Guioli S, Basler E, Camerino G (1990) Two families of low-copy-number repeats are interspersed on Xp22.3: implications for the high frequency of deletions in this region. Genomics 8:263-270
4. Barker D, Wright E, Nguyen K, Cannon L, Fain P, Goldgar D, Bishop DT, et al (1987) Gene for von Recklinghausen neurofibromatosis is in the pericentromeric region of chromosome 17. Science 236:1100-1102
5. Chance PF, Abbas N, Lensch MW, Pentao L, Roa BB, Patel PI, Lupski JR (1994) Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17. Hum Mol Genet. 3:223-228