61. Monosomy X Mosaicism possibly all liveborn females with turner syndrome carry a level mosaicism suggestthat most turner's individuals have and Y chromosome during male meiosis, as http://www.medgen.ubc.ca/wrobinson/mosaic/mono_x.htm

chromosomal Mosaicism HOME TABLE OF CONTENTS SEARCH BACKGROUND ... GLOSSARY Chromosome specific Trisomy MONOSOMY X MOSAICISM (MOSAIC TURNER SYNDROME) 45,X is a common cause of early pregnancy loss accounting for about 7% of spontaneous abortions. Based on the liveborn frequency of 45,X (also called Turner syndrome) of 1-2/10,000, it is estimated that less than 1% of 45,X conceptuses will survive to term. About 30% of Turners syndrome patients are mosaic with both a 45,X cell line and either a 46,XX cell line or one containing a rearranged X chromosome (Hook and Warburton 1983) . The phenotype in a liveborn infant is relatively mild considering the high embryonic lethality and it has been hypothesized that possibly all liveborn females with Turner syndrome carry a cell line containing two sex chromosomes, but it may be confined to a specific tissue (e.g. the placenta) or too low frequency to detect. In fact studies using molecular means to detect low level mosaicism suggest that most Turner's individuals have some diploid cells. Individuals with detectable mosaicism (i.e. observed in amniotic fluid or blood will on average have a milder phenotype than those with 100% 45,X in amniotic fluid or blood. Molecular studies show than the single X chromosome is maternally derived in about 80% of 45,X cases. This is probably a consequence of greater pairing problems between the X and Y chromosome during male meiosis, as well as perhaps a greater tendency to somatic loss of a Y as compared to an X chromosome.

62. Ask Jeeves: Search Results For "Orofaciodigital Syndrome" 47, XYY occurs in approximately 1 in 1000 of male live births. XYY http//www.cgep.org/Education/XYYAnswer.html4. turner's syndrome, Definition turner's http://webster.directhit.com/webster/search.aspx?qry=Orofaciodigital Syndrome

63. Xga Blood Group Systems Lastly, the mating of an Xg a positive male with a negative female gives the resultsshown Learn more about another X-chromosome aneuploidy at turner syndrome http://brie.medlabscience.med.ualberta.ca/de/genetics/70gen-xga.html

Xg a Blood Group System Inheritance The Xg a (or Xg) system is one of the few BGS whose genes are sex-linked. Because the system has little significance other than its mode of inheritance, it is included in this chapter. As the name implies, the gene locus is on the X chromosome. Inheritance is controlled by two alleles ( Xg a and Xg ) with Xg a being dominant and Xg being recessive (or an amorph). Because the system is sex-linked, the frequency of the Xg(a+) phenotype varies in males and females. The female frequency is 88% and the male frequency is 66%. Males can be positive ( Xg a Y ) or negative ( XgY ). If positive, they are said to be hemizygous. Females, if positive, can be homozygous ( Xg a Xg a ) or heterozygous ( Xg a Xg XgXg females are Xg(a-) Examples of Inheritance Inheritance of the Xg a antigen follows the expected pattern for sex-linked dominant traits. Figure 1-9 demonstrates a pedigree for an Xg a -negative male mating with a homozygous-positive female. When an Xg a -negative male mates with a heterozygous-positive female , results are shown in Figure 1-10 Lastly, the mating of an Xg

64. What Is TS TS is sometimes known as Ullrichturner syndrome. In a male there will be an X andaY chromosome46XY and in a female there will be two X chromosomes 46XX. http://www.tss.org.uk/whatis/WHATIS.htm

WHAT IS TS Definition Treatment Living With ... HOME WHAT IS TS The following description of Turner syndrome[TS] and explanation of some of the issues involved in living with Turner syndrome are not definitive and  a doctor or endocrine specialist should always be consulted whenever a diagnosis of Turner syndrome has been given.  The Turner Syndrome Support Society[UK] and other International Turner syndrome support groups can help with practical information on living daily with TS and can in most cases offer contact with other girls and women with TS and their families. Information about Turner syndrome can be found on the  internet and in books; sadly this information is not always correct, and the TSSS therefore strongly recommends that anyone concerned about TS should consult a health professional who specialises in Turner syndrome. In brief Turner syndrome [TS] is a chromosome abnormality affecting only females, caused by the complete or partial deletion of the X chromosome. The incidence of TS is approximately 1:2000 live female births.  Confirmation of a diagnosis of TS is by karyotype but a suspected diagnosis can be made by a series of characteristic physical features i.e. web neck, broad chest and widely spaced nipples, low hairline and increased carrying angle of the elbows and other features.  Two main clinical features of TS are short stature and non-functioning ovaries.  Diagnosis can be made at birth if, for instance, a newborn needs heart surgery because of coarctation of the aorta or because of oedema of the hands and feet.  Pre-natal diagnosis is sometimes made by chorionic villous sampling, amniocentesis or ultra sound.  However, most girls are diagnosed in early childhood when growth fails or later when the absence of a pubertal growth spurt and development of secondary sexual characteristics become apparent.

65. ClinicalTrials.gov - Linking Patients To Medical Research: Study Details girls and women ages 550 yr with the diagnosis of turner syndrome based on Biologicalparents (both male and female) of TS subjects may be included in this http://www.clinicaltrials.gov/ct/gui/show/NCT00001253?order=22

66. Genzyme Corporation - Genetics SITU HYBRIDIZATION (FISH) Other clinical syndromes involve male infertility and CYTOGENETICANALYSIS turner syndrome (45,X) Occurring approximately 1 in 2500 http://www.genzymegenetics.com/genetics/clinicalinfo/reproductive/welcome.htm

67. Notes turner syndrome. turner syndrome. Klinefelter syndrome. Klinefelter syndrome.XYY (Supermale). Undifferentiated Gonad. Development of male Gonads Testes. http://courses.washington.edu/gender/notes.htm

HOME Basics in the Study of Gender Research Basics Biology 1 ... Communication Psychology / Women Studies 257 - Autumn, 2002 Psychology of Gender Reminder: Slides provides on this page are intended to assist you in taking notes in lecture. They are NOT intended as a substitute for lecture and may not include all material covered in lecture. Gender Basics Click here to access printable WORD version of these slides Click here to start slide show Table of Contents Psychology of Gender Gender Beliefs and Attitudes Definition of Terms Sex vs. Gender Sex vs. Gender ... Gender Role Value Author: Department of Psychology Email: nkenney@u.washington.edu Home Page: http:courses.washington.edu/gender/ Research on Gender Click here to access printable WORD version of these slides Click here to start slide show Table of Contents Research on Gender Politics Politics Politics ... Gender Difference vs. Gender Exclusivity Author: Department of Psychology Email: nkenney@u.washington.edu

68. Turner Syndrome Without these types of conditions, however, a person with turner syndrome can beexpected to child, and for determining whether the child will be male or female http://www.chclibrary.org/micromed/00069390.html

Main Search Index Definition Description Causes ... Resources Turner syndrome Definition Turner syndrome is a disorder of the chromosomes affecting females, where one of the two X chromosomes is partially or completely absent. Description Chromosomes are structures in the nucleus of every cell in the body. Chromosomes contain the genetic information necessary to direct the growth and functioning of all the cells and systems of the body. A normal person has a total of 46 chromosomes in each cell, two of which are responsible for determining the sex of that person. Normally, females have two X chromosomes and males have one X and one Y chromosome. In Turner syndrome, an error very early in development results in an abnormal number and arrangement of chromosomes. Most commonly, a patient with Turner syndrome will be born with 45 chromosomes in each cell rather than 46. The missing chromosome is an X chromosome. About 1 in every 8,000 babies born has Turner syndrome. No cause has been identified for Turner syndrome. At birth, female babies with Turner syndrome are below average in weight and length. They have slightly swollen hands and feet, and sometimes have swelling at the nape of the neck. Girls with Turner syndrome are shorter than normal, and have short, webbed necks with extra, loose skin. The jaw is usually small and the ears are large. An extra fold of skin is often seen on either side of the nose, close to the eye (called an epicanthic fold). The chest is usually quite broad, with increased distance between the nipples.

69. By: Simon Ewins To: Johnny Mckinney Re: Check It Out... JM+gt; This Is A More Ki for males, or turner's syndrome and congenital adrenal hyperplasia (CAH) for females.males suffering from Klinefelter's syndrome have both the male (XY) and http://www.skepticfiles.org/gay/gender.htm

By: Simon Ewins To: Johnny Mckinney Re: Check It Out... JM+gt; This is a more kinder way o givecookie("BodyThetans", "Skeptic Tank Archives") E-Mail Fredric L. Rice / The Skeptic Tank

70. About Gender: The Developing Embryo - Germ Line And Somatic Mutations XY. They may range from female to male, though sometimes with elementsof turner's syndrome, or ambiguous genitalia. In addition http://www.gender.org.uk/about/04embryo/49_somat.htm

Germ Line and Somatic Mutations As described in the previous section, errors sometimes occur during the copying process. If they occur during mitosis, after conception, for instance, and during life, they are known as somatic mutations . If they happen during meiosis, in producing the egg or sperm, they are referred to as germ line mutations and, as such, they will be passed on through inheritance. As an example, a "mis-sense" mutation my occur, where the sequence, say: AGACGACGATTTGTT becomes AGACGACGATCTGTT. In other words, at one point in the genome, the amino acid arginine (TCT) replaces lysine (TTT). This changes the protein that it codes for, which in turn affects the way it interacts with the living process of which it is a part. Mutations used to be the stuff of horror movies, but they are a regular occurrence. Their effects may be drastic, even lethal, but usually they are barely noticeable. The mere fact that a gene may have a number of allelles indicates that mutations have occurred in various generations. Without germ line mutations, Darwinian evolution could not occur. Other errors during meiosis However, errors also sometimes occur during meiosis where the DNA becomes fragmented. A chromosome may not separate, called

71. Lectures, Second Series 22) – “Punnettsquare” type of diagram showing non-disjunction in male andfemale meiosis, and its consequences turner syndrome (“XO”), Klinefelter http://fig.cox.miami.edu/~pluykx/bil104/pl104lecsec.html

LECTURE OUTLINES, SECOND SERIES (Outlines of lectures from the first to the second mid-term exam) 9. Down syndrome 10. Sex chromosomes 11. Sex-chromosome errors; homosexuality 12. Homosexuality: twin studies and pedigrees 12. Homosexuality: twin studies and pedigrees – Identical twins, concordance and discordance for male, female homosexuality. Comparisons with fraternal twins, ordinary siblings, and siblings adopted by different families. Pedigree and X-linked marker study by Dean Hamer and colleagues (1993): textbook, pp. 123-129. More recent repeat of the study by Canadian researchers (George Rice and colleagues, 1999): different results. 11. Sex chromosomes errors; homosexuality (Feb. 22) – “Punnett-square” type of diagram showing non-disjunction in male and female meiosis, and its consequences: Turner syndrome (“XO”), Klinefelter syndrome (XXY); XXX; XYY; (“YO”). Rate of non-disjunction for sex-chromosomes, like that for chromosome 21, is related to maternal age. Many genes are involved in normal sexual development (see Handout #6), so that different gene mutations can give rise to various other disorders of sexual development: hermaphroditism, pseudohermaphroditism, etc. XX males and XY females. Homosexuality, useful distinction between biological sex, gender identification, gender orientation (sexual orientation); usually all go together. Frequency in the population. Explanation: gene differences? environmental differences? 10. Sex chromosomes (Feb. 20)

72. Human Chromosomal Abnormalities:  Sex Chromosome Abnormalities male abnormalities are the result of irregular numbers of either the X or the Ychromosome or both. Female Sex Chromosome Abnormalities. turner syndrome click http://anthro.palomar.edu/abnormal/abnormal_5.htm

Sex Chromosome Abnormalities T he majority of known types of chromosomal abnormalities involve sex chromosomes . In frequency of occurrence, they are only slightly less common than autosomal abnormalities. However, they are usually much less severe in their effects. The high frequency of people with sex chromosome aberrations is partly due to the fact that they are rarely lethal conditions. Like Down syndrome and other autosomal problems, sex chromosome gross abnormalities can be diagnosed before birth by amniocentesis and chorionic villi sampling. S ex chromosome abnormalities are gender specific. Normal males inherit an X and a Y chromosome while females have two X's. 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. Female Sex Chromosome Abnorm alities T urner syndrome occurs when females inherit only one X chromosometheir genotype is X0. If they survive to birth, these girls have abnormal growth patterns. They are short in stature, averaging 4

73. Sex Chromosomes And Determination Of Sex 46, XX, Normal, Female, 0.511*. 46, XY, Normal, male, 0.489*. 45, XO,turner's syndrome, Female, 1/5,000. 47, XXY, Klinefelter's syndrome,male, 1/700. http://www.people.virginia.edu/~rjh9u/sexdet.html

Sex Chromosomes and Determination of Sex Humans usually have 46 chromosomes per diploid cell consisting of 22 sets of autosomes and a set of sex chromosomes - either XX or XY . In the usual course of events, individuals with the karyotype 46, XX are female and individuals with 46, XY, are male The question arises as to how the sex of an individual is determined. Is sex determined by the number of X chromosomes - with one X you are male or with 2 X's you are female? Or is sex determined by the presence or absence of the Y chromosome - the presence of a Y makes for a male or the absence of a Y produces a female? The answer was provided by individuals resulting from non-disjunction of the sex chromosomes. Some individuals have 45 chromosomes and have only one X chromosome; other individuals have 47 chromosomes and have two X chromosomes and a Y. The table below indicates the sex of these individuals. Chromosome Constitution Name of Syndrome Sex of Individual Frequency in Population XX Normal Female XY Normal Male XO Turner's Syndrome Female XXY Klinefelter's Syndrome Male *Female (46,XX) and Male (46,XY) frequencies taken from the

74. Pediatric Cardiology chaotic atrial rhythm).Some of the physical features are similar to turner's syndromeand it has been sometimes called the male turner's syndrome, However, it http://www.ucch.org/sections/cardio/new/noonan.html

Sections/Specialties Palos Heights Merrillville La Rabida [Return to main] Noonan Syndrome Noonans Organization Table of Contents

75. Sex Chromosomes A similar system is found in birds and moths, but here the male has two of thesame Examples turner's syndrome females with but a single X chromosome. http://users.rcn.com/jkimball.ma.ultranet/BiologyPages/S/SexChromosomes.html

Index to this page The Y Chromosome The Pseudoautosomal Regions SRY The X Chromosome ... X-Chromosome Abnormalities Sex Chromosomes The nuclei of human cells contain 22 autosomes and 2 sex chromosomes. In females, the sex chromosomes are the 2 X chromosomes . Males have one X chromosome and one Y chromosome . The presence of the Y chromosome is decisive for unleashing the developmental program that leads to a baby boy. The Y Chromosome In making sperm by meiosis , the X and Y chromosomes must separate in anaphase just as homologous autosomes do. This occurs without a problem because, like homologous autosomes, the X and Y chromosome synapse during prophase of meiosis I. There is a small region of homology shared by the X and Y chromosome and synapsis occurs at that region. This image, courtesy of C. Tease, shows synapsis of the X and Y chromosomes of a mouse during prophase of meiosis I. Crossing over occurs in two regions of pairing, called the pseudoautosomal regions . These are located at opposite ends of the chromosome. The Pseudoautosomal Regions The pseudoautosomal regions get their name because any genes located within them (so far only 9 have been found) are inherited just like any autosomal genes. Males have two copies of these genes: one in the pseudoautosomal region of their Y, the other in the corresponding portion of their X chromosome. So males can inherit an allele originally present on the X chromosome of their father and females can inherit an allele originally present on the Y chromosome of their father.

76. A Guide To Pathology - Medical Books By Dr K Chaudhry, New Delhi turner's syndrome. In contrast with the previous one, this syndrome isfeminization of the male with cortical dysgcnesis of the gonads. http://medicalbooks.rushsale.net/pathology/chapter13.php

77. IVillage.com: The Women's Network | Print This Article would rule out this possibility, as it tells us that your body is capable of respondingto male hormones. Let's look at other clues. turner syndrome, a common http://www.ivillagehealth.com/print/0,,174767,00.html

main COMMUNITY Message Boards Chats ... Community Challenges find on iVillage on astrology on babies on beauty on books on food on health on lamaze.com on money on parenting on pets on relationships on women.com on work MAGAZINES on Cosmopolitan on Country Living on Good Housekeeping on House Beautiful on Marie Claire on Redbook on Victoria you are here: iVillage ivillagehealth experts fertility To print, just click on your PRINT icon in the top browser navigation bar. Back No Period at Age 17 Women who do not have a period by the time they are 16 are said to have primary amenorrhea. (By contrast, secondary amenorrhea means that menstruation started but periods are no longer occurring regularly.) In order to determine the cause of this condition I would need to search for clues. The first thing I look for in a young woman with primary amenorrhea is pubic hair growth. Pubertal hair growth starts in response to male hormones from the adrenal gland and continues as the ovaries develop and also contribute male hormones. One common abnormality occurs when the body lacks the ability to respond to male hormones. In this condition, called androgen insensitivity syndrome , the person develops with the appearance of a female despite having a male chromosomal pattern and gonadal production of male hormones. However, the person does not have a uterus or periods, pubic and axillary hair are scant, and testosterone levels are in the male hormone range. In your case, the presence of pubic hair would rule out this possibility, as it tells us that your body is capable of responding to male hormones.

78. Chromosomal_intersex.html group for girls and women with turner syndrome and their relevant to intersex conditions,the XYY syndrome is a which there an extra Y ( male ) chromosome is http://www.ifas.org.au/chromosomal_intersex.html

CHROMOSOMES AND INTERSEX Chromosomes, the spaghetti-like strands of hereditary material found in each cell of the body, determine such characteristics as the color of our eyes and hair, our height, and to what extent we are male or female. Women usually have 46XX chromosmes, inheriting two X chromosomes-one from each parent. Men tend to inherit an X chromosome from their mothers, and a Y chromosome from their fathers making them 46XY. The following unusual chromosomal conditions can produce ambiguous genitalia and hermaphroditism: Sometimes a person is born with a 47XXY karyotype. Physicians refer to this genetic condition as either XXY or Klinefelter syndrome. Though these terms are often used interchangeably, they actually refer to two quite different, though related, conditions. In 1942, Dr. Harry Klinefelter while working at the Massachusetts General Hospital in Boston published with fellow researchers a report about nine adult males who had similar features: tall (around six feet) small testes or hypogonadism inability to produce sperm sparse facial and body hair gynecomastia By the late 1950's researchers discovered that men with these features (Klinefelter syndrome), had an extra X sex chromosome, and were XXY instead of the typical male arrangement of XY. See

79. Definitions Anatomically male but infertile. turner's syndrome http//www.turnersyndrome-us.orgAffectedindividuals have one X and no Y chromosome. http://mrkhorg.homestead.com/files/home/Definitions.htm

home DEFINITIONS OF OTHER SYNDROMES Intersex : http://www.isna.org/ Includes all chromosome combinations - XX, XY and every variation. In general intersex includes anyone whose redroductive anatomy does not fit the medical definition of 'normal male' or 'normal female'. Androgen Insensitivity Syndrome (AIS, formerly known as testicular feminization): http://www.medhelp.org/www/ais/ An XY (chromosomally male) fetus lacks sensitivity to testosterone, so develops external anatomy and gender identity of female, but lacks internal reproductive tract of either sex. Congenital Adrenal Hyperplasia- (CAH- or Adrenogenital Syndrome): http://www.cah.org.uk/ Genetic complication in adrenal glands causes excessive secretion of androgens during fetal life. Genitals of female children are masculinized to a variable degree. Partial AIS: Like AIS, but with reduced rather than absent sensitivity to androgens. Child may partially virilize at puberty if testes are not removed. Mayer-Rokitansky-Kuster-Hauser Syndrome (MRKH): www.mrkh.org

80. THE MERCK MANUAL, Sec. 19, Ch. 269, Endocrine And Metabolic Disorders male Hypogonadism. Short stature may be due to turner syndrome, a genetic disorderoccurring in phenotypic females characterized by the loss of all or part of http://www.merck.com/pubs/mmanual/section19/chapter269/269e.htm

This Publication Is Searchable The Merck Manual of Diagnosis and Therapy Section 19. Pediatrics Chapter 269. Endocrine And Metabolic Disorders Topics Congenital Goiters Hypothyroidism Hyperthyroidism Short Stature Due To Hypopituitarism ... Anomalies In Amino Acid Metabolism Short Stature Due To Miscellaneous Causes Short stature may result from chronic renal insufficiency. In these children, GH therapy (see above ), in addition to good nutrition and metabolic control, produces a sustained improvement in standardized height. No deleterious effects on renal function from GH have been noted; GH has been shown to be beneficial before renal transplantation and in children receiving dialysis. It is unclear whether GH can oppose the growth-inhibiting effects of exogenous glucocorticoids after renal transplantation. Short stature may be due to Turner syndrome, a genetic disorder occurring in phenotypic females characterized by the loss of all or part of an X chromosome in all or some body tissues. Short stature is a universal finding (for other stigmas, see Turner Syndrome under Chromosomal Abnormalities in Ch. 261). Rarely, girls with short stature and gonadal dysgenesis have no other stigmas characteristic of Turner syndrome. Thus, karyotypic evaluation should be included when assessing a short girl with no obvious cause of short stature.

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