Increased frequency of heterozygotes for α1 antitrypsin variants in individuals with either sex chromosome mosaicism or trisomy 21

Nature ◽  
1976 ◽  
Vol 260 (5549) ◽  
pp. 320-321 ◽  
Author(s):  
ROBERT M. FINEMAN ◽  
KENNETH K. KIDD ◽  
A. MYRON JOHNSON ◽  
W. ROY BREG
Keyword(s):  
Trisomy 21 ◽  
Sex Chromosome ◽  
Chromosome Mosaicism

Prenatal diagnosis of trisomy 21 and X/XX sex chromosome mosaicism

1985 ◽  
Vol 5 (4) ◽  
pp. 295-298 ◽  
Author(s):  
Maureen M. McCorquodale ◽  
Theresa Cummins ◽  
Judith Furlong
Keyword(s):  
Prenatal Diagnosis ◽  
Trisomy 21 ◽  
Sex Chromosome ◽  
Chromosome Mosaicism

Double aneuploidy: Trisomy 21 andXO/XX sex chromosome mosaicism

1964 ◽  
Vol 65 (6) ◽  
pp. 937-939 ◽  
Author(s):  
Allen W. Root ◽  
Alfred M. Bongiovanni ◽  
Sidney Breibart ◽  
William J. Mellman
Keyword(s):  
Trisomy 21 ◽  
Sex Chromosome ◽  
Chromosome Mosaicism ◽  
Double Aneuploidy

Fluorescence In Situ Hybridization Analysis of Sex-Chromosome Mosaicism in Azoospermic Men

2001 ◽  
Vol 22 (6) ◽  
pp. 970-972 ◽  
Author(s):  
HIROSHI OKADA ◽  
MASAKI DOBASHI ◽  
TAKAFUMI YAMAZAKI ◽  
MASATO FUJISAWA ◽  
SOICHI ARAKAWA ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
Fluorescence In Situ Hybridization ◽  
Sex Chromosome ◽  
Hybridization Analysis ◽  
Chromosome Mosaicism

Sex-Chromosome Mosaicism of Type XYY/XO

1962 ◽  
Vol 266 (14) ◽  
pp. 699-702 ◽  
Author(s):  
Herbert L. Cooper ◽  
Herbert S. Kupperman ◽  
Orlando R. Rendon ◽  
Kurt Hirschhorn
Keyword(s):  
Sex Chromosome ◽  
Chromosome Mosaicism

Chromosomes

2017 ◽  
Author(s):  
Helen V. Firth ◽  
Jane A. Hurst
Keyword(s):  
Clinical Features ◽  
Support Groups ◽  
Trisomy 21 ◽  
Sex Chromosome ◽  
Deletion Syndrome ◽  
Special Focus ◽  
22Q11 Deletion Syndrome ◽  
Chromosomal Disorders ◽  
Edwards Syndrome ◽  
Ring Chromosomes

This chapter lists a range of chromosomal disorders: the 22q11 deletion syndrome, Down’s syndrome (trisomy 21), Edwards’ syndrome (trisomy 18), ring chromosomes, sex chromosome mosaicism, triploidy, Turner syndrome, and others. For each of the syndromes, special focus is given to the main clinical features. The chapter goes on to outline the main clinical features and management, as well as listing the support groups.

scholarly journals Cytogenetics of Premature Ovarian Failure: An Investigation on 269 Affected Women

2011 ◽  
Vol 2011 ◽  
pp. 1-9 ◽  
Author(s):  
Simona Baronchelli ◽  
Donatella Conconi ◽  
Elena Panzeri ◽  
Angela Bentivegna ◽  
Serena Redaelli ◽  
...  
Keyword(s):  
X Chromosome ◽  
Premature Ovarian Failure ◽  
Ovarian Function ◽  
Sex Chromosome ◽  
Chromosomal Abnormalities ◽  
Population Group ◽  
Ovarian Failure ◽  
Chromosome Mosaicism ◽  
Low Level

The importance of X chromosome in the aetiology of premature ovarian failure (POF) is well-known but in many cases POF still remains idiopathic. Chromosome aneuploidy increase is a physiological phenomenon related to aging, but the role of low-level sex chromosome mosaicism in ovarian function is still undiscovered. Standard cytogenetic analysis was carried out in a total of 269 patients affected by POF: 27 chromosomal abnormalities were identified, including X chromosome and autosomal structural and numerical abnormalities. In 47 patients with 46,XX karyotype we performed interphase FISH using X alpha-satellite probe in order to identify X chromosome mosaicism rate. Aneuploidy rate in the patient group was significantly higher than the general population group. These findings underline the importance of X chromosome in the aetiology of POF and highlight the potential role of low-level sex chromosome mosaicism in ovarian aging that may lead to a premature onset of menopause.

Sex chromosome mosaicism in 3 sibs

1970 ◽  
Vol 107 (1) ◽  
pp. 108-115 ◽  
Author(s):  
Arthur Goldstein ◽  
Richard Hausknecht ◽  
Lillian Y. Hsu ◽  
Herbert Brendler ◽  
Kurt Hirschhorn
Keyword(s):  
Sex Chromosome ◽  
Chromosome Mosaicism

Stability of sex chromosome mosaicism

1980 ◽  
Vol 136 (4) ◽  
pp. 509-512 ◽  
Author(s):  
Sherman Elias ◽  
Alice O. Martin ◽  
Joe Leigh Simpson
Keyword(s):  
Sex Chromosome ◽  
Chromosome Mosaicism

TURNERʼS SYNDROME WITH SECONDARY AMENORRHOEA AND SEX CHROMOSOME MOSAICISM

1965 ◽  
Vol 20 (1) ◽  
pp. 109-110
Author(s):  
D. R. LONDON ◽  
N. H. KEMP ◽  
J. R. ELLIS ◽  
URSULA MITTWOCH
Keyword(s):  
Sex Chromosome ◽  
Chromosome Mosaicism ◽  
Secondary Amenorrhoea
Sign in / Sign up

Export Citation Format

Share Document