J Med Genet

HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS REGISTER


[Advanced]
This Article
Right arrow Full Text
Right arrow Full Text (PDF)
Right arrow Submit a response
Right arrow Alert me when this article is cited
Right arrow Alert me when eLetters are posted
Right arrow Alert me if a correction is posted
Right arrow Citation Map
Services
Right arrow Email this link to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Add article to my folders
Right arrow Download to citation manager
Right arrowRequest Permissions
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by STRATAKIS, C. A
Right arrow Articles by HADDAD, B. R
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by STRATAKIS, C. A
Right arrow Articles by HADDAD, B. R
J Med Genet 2001;38:106-109 ( February )

Letters to the editor

Segmental uniparental isodisomy (UPD) for 2p16 without clinical symptoms: implications for UPD and other genetic studies of chromosome 2

The first 150 words of the full text of this article appear below.

EDITOR---Uniparental disomy (UPD) is the inheritance of both copies of a chromosome or a chromosomal region from one parent.1 2 When both chromosomes from one parent are present the phenomenon is called "heterodisomy", whereas the presence of two copies of only one of the parental chromosomes is called "isodisomy". A map of UPD for the human genome has been proposed and covers several areas of the 22 autosomes and the X chromosome.1 3 Not unexpectedly, growth abnormalities and other endocrine disturbances appear to be frequent in patients with UPD for whole chromosomes or even for small chromosomal regions.3 Although UPD appears to be rare among patients with various congenital defects,4 disomic human sperm nuclei are present relatively frequently and without interchromosomal differences.5 The true incidence of UPD may be significantly higher if the various molecular and cytogenetic possibilities for disomy are considered, and the genome is tested by densely located polymorphic . . . [Full text of this article]


This article has been cited by other articles:


Home page
 J. Med. Genet.Home page
D Kotzot
Complex and segmental uniparental disomy updated
J. Med. Genet., September 1, 2008; 45(9): 545 - 556.
[Abstract] [Full Text] [PDF]

Home page
 Hum ReprodHome page
L. A. Allen, J. C. Achermann, P. Pakarinen, T. J. Kotlar, I. T. Huhtaniemi, J. L. Jameson, T. D. Cheetham, and S. G. Ball
A novel loss of function mutation in exon 10 of the FSH receptor gene causing hypergonadotrophic hypogonadism: clinical and molecular characteristics
Hum. Reprod., February 1, 2003; 18(2): 251 - 256.
[Abstract] [Full Text] [PDF]

Home page
 J. Med. Genet.Home page
D. Kotzot
Complex and segmental uniparental disomy (UPD): review and lessons from rare chromosomal complements
J. Med. Genet., August 1, 2001; 38(8): 497 - 507.
[Abstract] [Full Text] [PDF]


HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS REGISTER
Terms and conditions relating to subscriptions purchased online  ¦  Website terms and conditions  ¦  Privacy policy
Copyright © 2001 by the BMJ Publishing Group Ltd.