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Topic: Chromosomal abnormalities

In the News (Sat 26 Dec 09)

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	ABNORMALITIES IN CHROMOSOME STRUCTURE
		Abnormalities in chromosome structure follow a chromosome break and, during the repair process, the reunion of the wrong segments of the chromosome.
		Individuals and families have been described with a translocation chromosome abnormality and a concurrent genetic condition; the genetic condition occurring because the chromosome breakpoint is in the midst of a gene.
		In contradistinction, a numerical chromosome abnormality in a child is presumed to be due to a sporadic cell division error and parental chromosome studies are not indicated.
	www.usd.edu /med/som/genetics/curriculum/1ECHROM3.htm (1824 words)

	THE MERCK MANUAL, Sec. 19, Ch. 261, Congenital Anomalies
		Chromosomes are the 46 rodlike structures seen during cell division in the nucleus of most human cells.
		Chromosomes from single cells are usually photographed, their images cut out of the print and pasted onto a piece of paper, forming a karyotype.
		The genitalia are frequently abnormal in both sexes; cryptorchidism and an abnormal scrotum occur in the male, and a bicornuate uterus occurs in the female.
	www.merck.com /mrkshared/mmanual/section19/chapter261/261l.jsp (3704 words)

	Chromosomal aberrations in children with suspected genetic disorders
		The impact of chromosomal abnormalities is greatest during fetal life when they have their highest frequency and represent a major cause of fetal loss [2].
		The frequency of chromosomal abnormalities is known to be significantly higher in selected populations than in unselected populations [7,8].
		The aims of the present work were to investigate the different types of chromosomal aberrations and their relative frequencies in a group of children with suspected genetic disorders and to identify precisely the role of cytogenetic investigation in confirming the diagnosis, thus allowing proper genetic counselling to be offered.
	www.emro.who.int /Publications/EMHJ/0301/17.htm (1966 words)

	Medical References: Chromosomal Abnormalities (Site not responding. Last check: 2007-10-29)
		Chromosomal abnormalities generally result from an error that occurred when an egg or sperm cell was developing.
		Some of these uncommon abnormalities include: deletions (small missing sections); microdeletions (a minute amount of missing material that may include only a single gene); translocations (a section of a chromosome is attached to another chromosome); and inversions (a section of chromosome is snipped out and reinserted upside down).
		Whether a child has a rare or common chromosomal abnormality, it is important that he or she be evaluated as an individual.
	www.marchofdimes.com /professionals/681_1209.asp (1770 words)

	CHROMOSOMAL PATTERNS OF INHERITANCE
		Chromosome abnormalities are errors that result in an abnormal chromosome number or an abnormal chromosome structure.
		The chromosomes, or karyotype, of a patient with a single gene disorder are expected to be normal, 46,XX or 46,XY.
		Therefore, chromosome studies are not recommended for patients who are thought to have a single gene disorder such as cystic fibrosis or muscular dystrophy.
	www.usd.edu /med/som/genetics/curriculum/1DCHROM2.htm (1619 words)

	Ask Lenore ~ Recurrent Miscarriage ~ Causes, evaluation, and treatment ~
		Chromosome imbalance caused by the absence or duplication of chromosomal material most often results in spontaneous abortion.
		Structural chromosomal anomalies are different from numerical anomalies in that they consist of a defect in the structure of 1 or more chromosomes.
		In a reciprocal translocation, pieces from 2 nonhomologous chromosomes have switched places with each other; in a Robertsonian translocation, 2 acrocentric chromosomes -- that is, chromosomes with essentially a single long arm rather than the more normally encountered long and short arms -- are fused together.
	www.asklenore.info /miscarriage/bick/types.html (462 words)

	The University of Chicago Hospitals Section of Reproductive Endocrinology & Infertility - Recurrent preganacy loss ... (Site not responding. Last check: 2007-10-29)
		Chromosomes are the "building blocks" or instructions for the embryo to grow.
		Unlike the chromosomal abnormalities that occur randomly, there are cases where one or both parents are carrying a permanently defective genetic material, which accounts for 3.5% of recurrent miscarriages.
		The most frequent cause of chromosomal abnormality is when the egg splits unevenly either during the egg's first division (around the time of ovulation) or during the second division when it is being fertilized.
	babies.bsd.uchicago.edu /endo/chromosomal.htm (619 words)

	Human Genetics - Chromosomal Inheritance 1
		To identify chromosomes, they are arrested in late prophase or early metaphase of mitosis, when the chromosomes are duplicated and condensed, but the centromere has not yet divided.
		Chromosome replication is different in humans than it is in bacteria, although the method of DNA replication is the same.
		Meiotic nondisjunction, the failure of the chromosomes to disjoin and pass to opposite poles, in either the first or second meiotic division is the major cause of chromosomal abnormalities.
	www.uic.edu /classes/bms/bms655/lesson9.html (2625 words)

	Medical References: Miscarriage (Site not responding. Last check: 2007-10-29)
		Chromosomal abnormalities become more common with aging, and women over age 35 are at higher risk of miscarriage than younger women.
		Most parents who suffer repeated miscarriages have normal chromosomes; however, there is a 2 to 4 percent chance that either partner carries a chromosomal rearrangement that does not affect his or her health, but can cause chromosomal abnormalities in the fetus that can result in miscarriage.
		Abnormalities of the uterus cause 10 to 15 percent of repeated miscarriages.
	www.marchofdimes.com /professionals/681_1192.asp (2064 words)

	[No title] (Site not responding. Last check: 2007-10-29)
		A chromosomal abnormality in the number of chromosomes in a human cell simply refers to a cell that does not have the normal number (23 in sex cells and 46 in all other cells) of chromosomes.
		During mitosis, chromosomes may improperly segregate to the wrong poles (ends) of the cell, leaving one daughter (resultant) cell with an extra chromosome and the other daughter cell missing a chromosome.
		Chromosomal abnormalities that occur before birth are usually embryo lethal, meaning the embryo does not survive through the pregnancy.
	www.knowledgene.com /public/view.php3?db=gene_school&uid=62 (1238 words)

	Introduction: Chromosomal and Genetic Abnormalities: Merck Manual Home Edition
		A chromosomal or other genetic abnormality can affect the number of chromosomes, the structure of certain chromosomes, or the composition of chromosomes (for example, genetic material from one chromosome may be attached to another).
		The older a pregnant woman is, the greater the chance that her fetus will have a chromosomal abnormality (see Genetic Disorders Detection: Chromosomal Abnormalities).
		Chromosomal abnormalities can cause a wide range of abnormalities or effects, usually birth defects (see Birth Defects: Introduction) or death of the embryo or fetus before birth.
	www.merck.com /mmhe/sec23/ch266/ch266a.html (571 words)

	Horse karyotyping
		Included in the array of chromosomes are those which determine sex; the mare contributes a chromosome called an X and the stallion either an X or a Y. Thus the normal karyotype for a mare is 64, XX and a stallion 64, XY.
		Occasionally chromosomal material is lost or rearranged during the formation of gametes or during cell division of the early embryo.
		Rarely, if the chromosomal rearrangement or loss is relatively minor, the resulting embryo completes development, but subsequently may have abnormal patterns of growth, maturation and reproduction.
	www.vgl.ucdavis.edu /~lvmillon/karyo.html (662 words)

	Human Chromosomal Abnormalities: Sex Chromosome Abnormalities
		A single Y chromosome is sufficient to produce maleness while its absence is necessary for femaleness.
		Female abnormalities are due to variations in the number of X chromosomes.
		Male abnormalities are the result of irregular numbers of either the X or the Y chromosome or both.
	anthro.palomar.edu /abnormal/abnormal_5.htm (1047 words)

	Oct 96, Screen 2
		The frequency with which chromosomal anomalies are recognizable in stillborns is intermediate between those rates for spontaneous miscarriages and for liveborns.
		If one counts the proportion of abnormal chromosome studies only in those in whom tissue was successful, then the yield is about 6.5%.
		Unlike most chromosome abnormalities, such translocations imply rather high risks for recurrence in subsequent pregnancies (as well as, of course, allowing for early prenatal diagnostic assessment should the family so choose).
	www.wisc.edu /wissp/wisspers/oct96001.htm (1103 words)

	Prenatal Diagnosis (Site not responding. Last check: 2007-10-29)
		Subtle abnormalities may not be detected until later in pregnancy, or may not be detected at all.
		A placenta with an abnormal karyotype (confined placental mosaicism) may lead to stillbirth, even though the fetus has a normal karyotype; conversely, a placenta with a normal karyotype may allow longer survival for a fetus with a chromosomal abnormality.
		Rarely, a translocation of part of one chromosome to another in the parent will be passed on to the child as a partial trisomy (such as 6p+ or 16p+) which may not be as severe as a complete trisomy.
	www-medlib.med.utah.edu /WebPath/TUTORIAL/PRENATAL/PRENATAL.html (4232 words)

	Chromosome Abnormalities (Site not responding. Last check: 2007-10-29)
		In nondisjunction, the paired copies of a particular chromosome do not separate at cell division and therefore, two copies of a chromosome are placed in a gamete, rather than one.
		If that gamete is used in a fertilization event, its two chromosomal copies are united with one chromosomal copy from the other gamete, resulting in an embryo with three copies of that particular chromosome (called trisomy).
		Then the chromosomes were carefully cut out of the photograph with scissors, pairs were established according to their banding patterns, and the pairs were organized according to size.
	gslc.genetics.utah.edu /units/disorders/whataregd/chrom.cfm (323 words)

	The Reading Hospital and Medical Center - Types of Genetic Diseases
		Chromosomal abnormalities in the baby may be inherited from the parent or may occur with no family history.
		It is difficult to predict inheritance of abnormalities caused by multiple factors.
		Many birth defects occur when the fetus is exposed to teratogens (substances that cause abnormalities) during the first trimester of pregnancy when organs are forming.
	www.readinghospital.org /content.asp?pageid=P02505 (752 words)

	Smoking while pregnant may increase chromosomal abnormalities in fetal cells, study (Site not responding. Last check: 2007-10-29)
		A preliminary report suggests that maternal smoking during pregnancy is associated with increased chromosomal abnormalities in fetal cells, according to a study in the March 9 issue of JAMA.
		Statistical analysis found a certain chromosomal region was most affected by tobacco, and noted that this region has been implicated in hematopoietic (pertaining to the formation of blood or blood cells) malignancies.
		"It has been suggested that the increase of chromosomal lesions and structural abnormalities or the very existence of an increased chromosomal instability resulting from the genotoxic effect of tobacco could be indicative of an increased cancer risk and that fragile sites could be responsible for the chromosomal instability observed in cancer cells," the authors write.
	www.medicalnewstoday.com /medicalnews.php?newsid=20930 (664 words)

	[No title]
		Testing fetus for chromosomal abnormalities are currently done through amniocentesis and other methods of screenings.
		The abnormalities of chromosome may be giving rise to Down’s syndrome etc. early identification of which is essential.
		This test will be the first of its kind, being noninvasive test for chromosomal abnormalities, and may be used for both low risk and high risk pregnancies.
	www.medindia.net /News/view_news_main.asp?x=3663&t=gn (259 words)

	Chromosomal Abnormalities in 478 Children With Acute Myeloid Leukemia: Clinical Characteristics and Treatment Outcome ...
		Abnormalities resulting in total or partial loss of 5q were identified in 6 cases.
		Acquisition of an extra chromosome 21 occurred in 26 cases and was the sole chromosomal aberration in 7.
		delineates the incidence of chromosomal abnormalities in childhood
	www.bloodjournal.org /cgi/content/full/94/11/3707 (6106 words)

	Incidence of sperm chromosomal abnormalities in a risk population: relationship with sperm quality and ICSI outcome -- ...
		Incidence of sperm chromosomal abnormalities in a risk population: relationship with sperm quality and ICSI outcome -- Rubio et al.
		Blanco, J., Egozcue, J. and Vidal, F. (1996) Incidence of chromosome 21 disomy in human spermatozoa as determined by fluorescent in-situ hybridisation.
		(1998) Chromosome 21 disomy in the spermatozoa of the fathers of children with trisomy, 21, in a population with a high prevalence of Down Syndrome: increased incidence in cases of paternal origin.
	humrep.oxfordjournals.org /cgi/content/full/16/10/2084 (4171 words)

	Chromosomal Abnormalities in Pregnancies Conceived with Technologies (Site not responding. Last check: 2007-10-29)
		Single pregnancies conceived with ART were found not to have a higher risk of chromosomal abnormalities when compared to those conceived spontaneously.
		Pisarska says that further investigation is still needed in the long run, however, to determine if the small number of genetic disorders that occurred at 9-12 weeks gestation were the result of the infertility alone or were transferred from one of the parents to their offspring.
		As in the study of single pregnancies, the women in the twin study were 35 years of age or older and had chorionic villus sampling done between 9 and 12 weeks.
	www.pslgroup.com /dg/254466.htm (1019 words)

	Chromosomal Disorder Referral Guidelines (Site not responding. Last check: 2007-10-29)
		Patients with chromosomal abnormalities, including trisomies, chromosomal deletions, duplications, translocations, inversions resulting in major and minor congenital anomalies with or without growth retardation and mental retardation.
		Pre-pregnancy counseling and current intrauterine pregnancy counseling for women with a chromosomal abnormality or a family history of chromosomal abnormality.
		Many patients with chromosomal aberrations are medically managed in primary care with periodic sub-specialty care evaluations.
	www.mamc.amedd.army.mil /Referral/guidelines/dev_ped_chrom.htm (279 words)

	Detection of chromosomal abnormalities by fluorescent in-situ hybridization in immotile viable spermatozoa determined ...
		Chromosomal abnormalities are detected in ~15% of azoospermic
		from centriolar or tubular abnormalities or absence of centrioles
		Guttenbach, M., Schakowski, R. and Schmid, M. (1994a) Incidence of chromosome 3, 7, 10, 11, 17 and X disomy in mature human sperm nuclei as determined by nonradioactive in situ hybridization.
	humrep.oxfordjournals.org /cgi/content/full/15/4/853 (2760 words)

	Chromosomal Abnormalities in Non-Small Cell Lung Carcinomas and in Bronchial Epithelia of High-Risk Smokers Detected by ...
		Chromosomal Abnormalities in Non-Small Cell Lung Carcinomas and in Bronchial Epithelia of High-Risk Smokers Detected by Multi-Target Interphase Fluorescence in Situ Hybridization -- Santos Romeo et al.
		Chromosomal Abnormalities in Non-Small Cell Lung Carcinomas and in Bronchial Epithelia of High-Risk Smokers Detected by Multi-Target Interphase Fluorescence in Situ Hybridization
		Sequences from chromosome 5p15.2 are labeled in green, from 6p11-q11 in aqua, from 7p12 in red and from 8q24 in yellow.
	jmd.amjpathol.org /cgi/content/full/5/2/103 (4888 words)

	University of Wisconsin Cytogenetic Services
		Chromosome studies are an important laboratory diagnostic procedure in prenatal diagnosis, in certain patients with mental retardation and multiple birth defects, in patients with abnormal sexual development, and in some cases of infertility or multiple miscarriages.
		Cytogenetic analysis is also useful in the study and treatment of patients with malignancies and hematologic disorders.
		New techniques allow for increased resolution of chromosome banding patterns, permitting differentiation of a greater number of abnormalities.
	www.slh.wisc.edu /cytogenetics/index.htmlx (257 words)

	Chromosome Disorders / Family Village
		CDO has a mission to provide support to parents of children born with rare chromosome disorders, gather together and share information, and to promote research and a positive community understanding of these disorders.
		The National Center For Chromosome Inversions is a non-profit corporation that acts as a information clearing house for patients and their families, that have been diagnosed with a chromosome inversion of any kind.
		A gathering place for families that are caring for children with chromosome 18 disorders.
	www.familyvillage.wisc.edu /lib_chro.htm (810 words)

	Chromosomal Abnormalities: Trisomy 18, Trisomy 13
		Mean survival time (MST) forTrisomy 18 is 6 days, and MST for trisomy 13 is 8.5 days.
		Multiple abnormalities exist in a fetus with a trisomy disorder, but there is no single anomaly that is pathognomonic for a given trisomy.
		Fuloria, M. The Newborn Examination I: Emergencies and Common Abnormalities Involving the Skin, Head, Neck, Chest, and Respiratory and Cardiovascular Systems.
	pedclerk.bsd.uchicago.edu /chromosomalabnormalities.html (454 words)

	Dr. Nathan Pregnancy Glossary of Terms
		This refers to abnormalities in the number or organization of chromosomes.
		A common example is trisomy 21 or Down syndrome, in which there is an extra chromosome number 21.
		This extra chromosome results in a constellation of abnormalities that is usually recognizable at birth and consistent from one patient with Down syndrome to another.
	www.babyzone.com /drnathan/C/Chromosomalabnormality.htm (334 words)

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