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-.

Cover of Chromosomal Variation in Man

Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet].

Show details


  • Same entry as in 16p133 (Bhalla et al, 2004).

  • Antonacci F, kidd J M, Marques-Bonet T, Teague B, ventura M, Girirajan S, Alkan C, Campbell C D, Vives L, Malig M, Rosenfeld J A, Ballif B C, Shaffer L G, Graves T A, Wilson R K, Schwartz D C, Eichler E E.: A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk. Nature Genet. 42: 745-750, 2010. [PMC free article: PMC2930074] [PubMed: 20729854]
    Aberration: Marker chromosome
    Chromosomal Aneuploidy: 16p-
  • Girirajan S, Rosenfeld J A, Cooper G M, Antonacci F, Siswara P, Itsara A, Vives L, Walsh T, McCarthy S E, Baker C, Mefford H C, Kidd J M, Browning S R, Browning B L, Dickel D E, Levy D L, Ballif B C, Platky K, Farber D M, Gowans G C, Wetherbee J J, Asamoah A, Weaver D D, Mark P R, Dickerson J, Garg B P, Ellingwood S A, Smith R, Banks V C, Smith W, McDonald M T, Hoo J J, french B N, Hudson C, Johnson J P, Ozmore J R, Moeschler J B, Surti U, escobar L F, El-Khechen D, Gorski J L, Kussmann J, salbert B, Lacassie Y, Biser A, McDonald-McGinn D M, Zackai E H, Deardoff M A, Shaikh T H, Haan E, Friend K L, Fichera M, Romano C, Gecz J, DeLisi L E, sebat J, King M-C, Shaffer L G, Eichler E E.: A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nature Genet. 42: 203-209, 2010. [PMC free article: PMC2847896] [PubMed: 20154674]
    A 520-kb microdeletion is reported to be associated with childhood developmental delay. It was detected in 20/11,873 cases compared with with 2/8,540 controld and replicated in a second series of 22/9,254 cases compared with with 6/6,299 controls.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 16p-
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106910
PubReader format: click here to try


  • PubReader
  • Print View
  • Cite this Page

Related information

  • PMC
    PubMed Central citations
  • PubMed
    Links to pubmed

Recent Activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...