skip to main content
Guest
My Research
My Account
Sign out
Sign in
This feature requires javascript
Library Search
Find Databases
Browse Search
E-Journals A-Z
E-Books A-Z
Citation Linker
Help
Language:
English
Vietnamese
This feature required javascript
This feature requires javascript
Primo Search
All Library Resources
All
Course Materials
Course Materials
Search For:
Clear Search Box
Search in:
All Library Resources
Or hit Enter to replace search target
Or select another collection:
Search in:
All Library Resources
Search in:
Print Resources
Search in:
Digital Resources
Search in:
Online E-Resources
Advanced Search
Browse Search
This feature requires javascript
Search Limited to:
Search Limited to:
Resource type
criteria input
All items
Books
Articles
Images
Audio Visual
Maps
Graduate theses
Show Results with:
criteria input
that contain my query words
with my exact phrase
starts with
Show Results with:
Search type Index
criteria input
anywhere in the record
in the title
as author/creator
in subject
Full Text
ISBN
ISSN
TOC
Keyword
Field
Show Results with:
in the title
Show Results with:
anywhere in the record
in the title
as author/creator
in subject
Full Text
ISBN
ISSN
TOC
Keyword
Field
This feature requires javascript
First report of a patient with a mixoploidy 47,XXX/94,XXXXXX
Genetic counseling, 2007, Vol.18 (1), p.99-104
[Peer Reviewed Journal]
Copyright Editions Medecine et Hygiene 2007 ;ISSN: 1015-8146 ;PMID: 17515305
Full text available
Citations
Cited by
View Online
Details
Recommendations
Reviews
Times Cited
External Links
This feature requires javascript
Actions
Add to My Research
Remove from My Research
E-mail
Print
Permalink
Citation
EasyBib
EndNote
RefWorks
Delicious
Export RIS
Export BibTeX
This feature requires javascript
Title:
First report of a patient with a mixoploidy 47,XXX/94,XXXXXX
Author:
Rodríguez Criado, G
;
Galán Gómez, E
;
Tizzano, E F
;
García Rodríguez, E
;
Gómez de Terreros, I
Subjects:
Abnormalities, Multiple - genetics
;
Adolescent
;
Chromosomes, Human, X
;
Female
;
Humans
;
Karyotyping
;
Mosaicism
;
Polyploidy
;
Sex Chromosome Aberrations
;
Sex Chromosome Disorders - genetics
;
Trisomy - genetics
Is Part Of:
Genetic counseling, 2007, Vol.18 (1), p.99-104
Description:
We present a 16 years old female with a chromosomal mixoploidy and multiple phenotypic anomalies. Peripheral blood G-band karyotype was 47,XXX and her skin fibroblast karyotype revealed a mosaic with a 47,XXX cell line in 88% of metaphases and a 94,XXXXXX cell line in 12% of metaphases, consistent with a hypertetraploidy. The most prominent clinical signs were: short stature, left upper limb asymmetry, senile-like appearance, generalized hypertrichosis, and small hands and feet. Radiological examination showed bone dysplasia. The result of molecular studies demonstrated that the patient inherited the two X chromosomes from the mother and one from the father, indicating that her 47,XXX trisomy resulted from an oogenesis error in the first meiotic division. The 94,XXXXXX cell line was likely the result of a cytokinesis error. To our knowledge, this is the first documented patient with a trisomy and a hypertetraploidy.
Publisher:
Switzerland: Éditions Médecine et Hygiène
Language:
English
Identifier:
ISSN: 1015-8146
PMID: 17515305
Source:
ProQuest One Psychology
AUTh Library subscriptions: ProQuest Central
MEDLINE
This feature requires javascript
This feature requires javascript
Back to results list
This feature requires javascript
This feature requires javascript
Searching Remote Databases, Please Wait
Searching for
in
scope:(TDTS),scope:(SFX),scope:(TDT),scope:(SEN),primo_central_multiple_fe
Show me what you have so far
This feature requires javascript
This feature requires javascript