NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.
Borgaonkar DS. Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 1975-.
Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet].
Show details- Bendavid C, Kleta R, Long R, Ouspenskaia M, Muenke M, Haddad B R, Gahl W A.: FISH diagnosis of the common 57-kb deletion in CTNS causing cystinosis. Hum. Genet. DOI=10.1007/s00439-004-1170-2; 115:510-514, 2004. [PubMed: 15365816]46,X(X)/(Y).ish del(17)(p13.2).The deletion is 57-kb in CTNS.Aberration: Interstitial deletionMIM#: 219800Chromosomal Aneuploidy: 17p-Index Terms: CTNS
- Hwang K S, Pearson M A, Stankiewicz P, Lennon P A, Cooper M L, Wu J, Ou Z, Cai W-W, Patel A, Cheung S W.: Cryptic unbalanced translocation t(17;18)(p13.2;q22.3) identified by subtelomeric FISH and defined by array-based comparative genomic hybridization in a patient with mental retardation and dysmorphic features. AJMG 137A: 88-93, 2005. [PubMed: 16015583]G banding=46,XX,t(3;8)(q26.2;p21.1)mat.,46,XX,t(3;8)(q26.2;p21.1)mat.ish der(18)t(17;18)(p13.2;q22.3).At age 3 years of age, she showed signs of 18q- syndrome and further work showed the cryptic t(17;18) translocation.Aberration: Simple translocationChromosomal Aneuploidy: 17p+;18q-Index Terms: Double translocation
- 17p132 - Chromosomal Variation in Man17p132 - Chromosomal Variation in Man
Your browsing activity is empty.
Activity recording is turned off.
See more...