Second trimester maternal serum analytes in triploid pregnancies: correlation with phenotype and sex chromosome complement

2001 ◽  
Vol 21 (8) ◽  
pp. 680-686 ◽  
Author(s):  
Peter A. Benn ◽  
Andrea Gainey ◽  
Charles J. Ingardia ◽  
John F. Rodis ◽  
James F. X. Egan
Keyword(s):  
Sex Chromosome ◽  
Chromosome Complement ◽  
Maternal Serum ◽  
Second Trimester

Second-trimester maternal serum progesterone levels in Turner syndrome with and without hydrops and in trisomy 18

1999 ◽  
Vol 19 (5) ◽  
pp. 476-479 ◽  
Author(s):  
G. M. Lambert-Messerlian ◽  
D. N. Saller ◽  
M. B. Tumber ◽  
C. A. French ◽  
C. J. Peterson ◽  
...  
Keyword(s):  
Turner Syndrome ◽  
Maternal Serum ◽  
Trisomy 18 ◽  
Second Trimester ◽  
Serum Progesterone

scholarly journals Rapid and simple prenatal diagnosis of common chromosome disorders: advantages and disadvantages of the molecular methods FISH and QF-PCR

Reproduction ◽  
2003 ◽  
pp. 279-297 ◽  
Author(s):  
MA Hulten ◽  
S Dhanjal ◽  
B Pertl
Keyword(s):  
Prenatal Diagnosis ◽  
Sex Chromosome ◽  
Chromosome Analysis ◽  
Maternal Serum ◽  
Molecular Techniques ◽  
Maternal Serum Screening ◽  
Advantages And Disadvantages ◽  
Microscopy Analysis ◽  
Chromosome Disorder

Molecular techniques have been developed for prenatal diagnosis of the most common chromosome disorders (trisomies 21, 13, 18 and sex chromosome aneuploidies) where results are available within a day or two. This involves fluorescence in situ hybridization (FISH) and microscopy analysis of fetal cells or quantitative fluorescence polymerase chain reaction (QF-PCR) on fetal DNA. Guidance is provided on the technological pitfalls in setting up and running these methods. Both methods are reliable, and the risk for misdiagnosis is low, although slightly higher for FISH. FISH is also more labour intensive than QF-PCR, the latter lending itself more easily to automation. These tests have been used as a preamble to full chromosome analysis by microscopy. However, there is a trend to apply the tests as 'stand-alone' tests for women who are at relatively low risk of having a baby with a chromosome disorder, in particular that associated with advanced age or results of maternal serum screening programmes. These women comprise the majority of those currently offered prenatal diagnosis with respect to fetal chromosome disorders and if introduced on a larger scale, the use of FISH and QF-PCR would lead to substantial economical savings. The implication, on the other hand, is that around one in 500 to one in 1000 cases with a mentally and/or physically disabling chromosome disorder would remain undiagnosed.

Very Low Second-Trimester Maternal Serum Alpha-fetoprotein

2002 ◽  
Vol 99 (4) ◽  
pp. 531-536 ◽  
Author(s):  
Ahmet A. Baschat ◽  
Chris R. Harman ◽  
Gehan Farid ◽  
Bernard N. Chodirker ◽  
Jane A. Evans
Keyword(s):  
Maternal Serum ◽  
Alpha Fetoprotein ◽  
Second Trimester ◽  
Serum Alpha Fetoprotein

scholarly journals X and Y Chromosome Complement Influence Adiposity and Metabolism in Mice

Endocrinology ◽  
2013 ◽  
Vol 154 (3) ◽  
pp. 1092-1104 ◽  
Author(s):  
Xuqi Chen ◽  
Rebecca McClusky ◽  
Yuichiro Itoh ◽  
Karen Reue ◽  
Arthur P. Arnold
Keyword(s):  
Body Weight ◽  
Y Chromosome ◽  
Sex Chromosomes ◽  
Sex Chromosome ◽  
Chromosome Complement ◽  
Gonadal Hormones ◽  
Xy Model ◽  
Second Sex ◽  
Metabolic Variables ◽  
Novel Model

Abstract Three different models of MF1 strain mice were studied to measure the effects of gonadal secretions and sex chromosome type and number on body weight and composition, and on related metabolic variables such as glucose homeostasis, feeding, and activity. The 3 genetic models varied sex chromosome complement in different ways, as follows: 1) “four core genotypes” mice, comprising XX and XY gonadal males, and XX and XY gonadal females; 2) the XY* model comprising groups similar to XO, XX, XY, and XXY; and 3) a novel model comprising 6 groups having XO, XX, and XY chromosomes with either testes or ovaries. In gonadally intact mice, gonadal males were heavier than gonadal females, but sex chromosome complement also influenced weight. The male/female difference was abolished by adult gonadectomy, after which mice with 2 sex chromosomes (XX or XY) had greater body weight and percentage of body fat than mice with 1 X chromosome. A second sex chromosome of either type, X or Y, had similar effects, indicating that the 2 sex chromosomes each possess factors that influence body weight and composition in the MF1 genetic background. Sex chromosome complement also influenced metabolic variables such as food intake and glucose tolerance. The results reveal a role for the Y chromosome in metabolism independent of testes and gonadal hormones and point to a small number of X–Y gene pairs with similar coding sequences as candidates for causing these effects.

An XX sex chromosome complement in an infant having male-type external genitals, renal agenesis, and other anomalies

1966 ◽  
Vol 69 (5) ◽  
pp. 812-814 ◽  
Author(s):  
Robert J. Schlegel ◽  
Manuel J. Aspillaga ◽  
Richard L. Neu ◽  
José Carneiro-Leão ◽  
Lytt I. Gardner
Keyword(s):  
Renal Agenesis ◽  
Sex Chromosome ◽  
Chromosome Complement ◽  
Male Type

Low second trimester maternal serum unconjugated oestriol in pregnancies with Down's syndrome

1988 ◽  
Vol 95 (4) ◽  
pp. 330-333 ◽  
Author(s):  
J. A. CANICK ◽  
G. J. KNIGHT ◽  
G. E. PALOMAK1 ◽  
J. E. HADDOW ◽  
H. S. CUCKLE ◽  
...  
Keyword(s):  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Maternal Serum ◽  
Second Trimester
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