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Your search keyword '"X chromosome -- Abnormalities"' showing total 9 results
Start Over Descriptor "X chromosome -- Abnormalities" Publisher elsevier b.v.
9 results on '"X chromosome -- Abnormalities"'

1. Retarded postimplantation development of XO mouse embryos: impact of the parental origin of the monosomic X chromosome

Author

Jamieson, Robyn V., Tan, Seong-Seng, and Tam, Patrick P.L.

Subjects
Embryology, Experimental -- Research, Developmental biology -- Research, Chromosome abnormalities -- Research, X chromosome -- Abnormalities, Mice -- Research, Biological sciences
Abstract

About 12-17% of the embryos obtained by mating mice carrying the In(X)1H or Paf mutations are of the 39,X (X0) genotype. Depending on the mutant mice used for mating, the monosomic X chromosome can be inherited from the paternal ([X.sup.P]) or the maternal ([X.sup.M]) parent. The [X.sub.P]0 embryos display developmental retardation at gastrulation and early organogenesis. [X.sup.P]0 embryos also display poor development of the ectoplacental cone, which is significantly smaller in size and contains fewer trophoblasts than XX siblings. In contrast, [X.sup.M]0 embryos develop normally and are indistinguishable from XX littermates. In both types of X0 embryos, an X-linked lacZ transgene is expressed in nearly all cells in both the embryonic and the extraembryonic tissues, suggesting that X inactivation does not occur when only one X is present. Of particular significance is the maintenance of an active [X.sup.P] chromosome in the extraembryonic tissues where normally the paternal X chromosome is preferentially inactivated in XX embryos. The differential impact of the inheritance of X chromosomes from different parents on the development of the X0 embryos raises the possibility that the [X.sup.P] is less capable than the [X.sup.M] in providing the appropriate dosage of X-linked activity that is necessary to support normal development of the embryo and the ectoplacental cone. Alternatively, the development of the [X.sup.P]0 embryo may be compromised by the lack of activity of one or several X-linked genes which are expressed only from the maternal X chromosome. Without the activity of these genes, embryonic development may be curtailed even though all other loci on the [X.sup.P] chromosome are actively transcribed.

Published
1998

2. A novel X chromosome-linked genetic cause of recurrent spontaneous abortion

Author

Lanasa, Mark C., Hogge, W. Allen, Kubik, Carolyn J., Ness, Roberta B., Harger, James, Nagel, Theodore, Prosen, Tracy, Markovic, Nina, and Hoffman, Eric P.

Subjects
Miscarriage -- Causes of, X chromosome -- Abnormalities, Health
Abstract

Women with recurring miscarriages may have abnormal X chromosome inactivation, leading to an X-linked genetic disorder that kills male fetuses. Normally, X chromosomes are inactivated randomly in girls and women, but sometimes this does not happen.

Published
2001

4. X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria

Author

Kelley, Richard I., Cheatham, John P., Clark, Bernard J., Nigro, Michael A., Powell, Berkley R., Sherwood, Geoffrey W., Sladky, John T., and Swisher, William P.

Subjects
X chromosome -- Abnormalities, Metabolism, Inborn errors of -- Genetic aspects, Cardiomyopathy, Dilated -- Genetic aspects, Health
Abstract

Case reports are presented of seven boys from five families with similar findings: dilated cardiomyopathy (enlarged heart); skeletal myopathy (abnormalities of muscle); impaired growth; neutropenia (decrease in the number of neutrophils, a type of white blood cell); and increased urinary concentrations of 3- methylglutaconate and 3-methylglutarate (carboxylic acids normally thought to be derived from the breakdown of leucine). Most of the patients had signs of congestive heart failure in the first few weeks of life, with the development of myocardial hypertrophy (enlargement of the muscular layer of the heart) as a later complication. The patients had normal or only slightly delayed cognitive development. A discussion is presented of the metabolic pathways that become deranged in this genetic disorder. This X- linked condition is potentially fatal in some cases because of serious infections resulting from the neutropenia. Boys with dilated cardiomyopathy or isolated neutropenia that is diagnosed in infancy or childhood should be examined to determine whether X- linked cardiomyopathy with 3-methylglutaconic aciduria is an appropriate diagnosis. Proper treatment can greatly increase the chances for a good prognosis. (Consumer Summary produced by Reliance Medical Information, Inc.)

Published
1991

9. Placental sulfatase deficiency and congenital ichthyosis with intrauterine fetal death: case report

Author

Rizk, Diaa E.E. and Johansen, Karl A.

Subjects
Ichthyosis -- Physiological aspects, X chromosome -- Abnormalities, Health
Abstract

Congenital ichthyosis may cause placental sulfatase deficiency, or reduced levels of the enzyme sulfatase in the placenta of a developing fetus. Congenital ichthyosis is a genetic disorder that is characterized by dryness and fish-like scaling of the skin. Placental sulfatase deficiency was diagnosed in a 23-year-old patient during the 30th week of her fourth pregnancy. One of her earlier pregnancies had ended in a miscarriage, and another had been ectopic. Her son had been diagnosed with ichthyosis at the age of nine months. An ultrasound at 18 weeks of pregnancy had revealed a male fetus with normal development. The fetus died during the 39th week of pregnancy from possible hypoxia, or lack of oxygen. The death of the fetus may have been caused by placental sulfatase deficiency. The mother was probably a carrier of congenital ichthyosis, a condition carried on the female sex chromosome.

Published
1993

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