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klinefelter syndrome nondisjunction meiosis 1 or 2

[6] Enlarged breasts may be removed by surgery. There is usually a small testicle volume of 1–5 ml per testicle (standard values: 12–30 ml). Nondisjunction is the term used to describe when the genetic material is unevenly distributed between the daughter cells during meiosis I or between the haploid gametes at the end of meiosis II, and is the cause for most chromosomal disorders, including Klinefelter's. About eighty percent of individuals with this syndrome have one extra X chromosome resulting in the karyotype XXY. [25][26], XXY males are more likely than other men to have certain health problems, such as autoimmune disorders, breast cancer, venous thromboembolic disease, and osteoporosis. [49] These results are still questioned data, are not absolute, and need further testing. This XXY chromosome arrangement is one of the most common genetic variations from the XY karyotype, occurring in about one in 500 live male births. Key Words: Klinefelter syndrome, spermatogenesis, meiosis, sperm aneuploidy, TESE Robert S. Sparkes, Barbara F. Crandall, in Fetal-Placental Disorders, 1972. The result is a gamete with only one chromatid. An egg with 22 chromosomes that is fertilized by a normal sperm will result in . Klinefelter Syndrome is seen in males with an extra X chromosomes. ( Log Out /  Klinefelter Syndrome (XXY). Down’s Syndrome or Trisomy 21. [21] It has been estimated that 50% of males with Klinefelter syndrome can produce sperm. Klinefelter syndrome is associated with decreased levels of testosterone and is the most common cause of … In addition to this linkage, roughly 10% of Klinefelter’s individuals exhibit mosaicism, which means that not all cells present with a trisomy pattern and instead, show a normal XY. [3][9] Often, symptoms are subtle and subjects do not realize they are affected. This is what commonly accompanies nondisjunction. Accordingly, nondisjunction mutation and translocation mutation are two major types of mutations that occur during cell division. [47] By 2010, over 100 successful pregnancies have been reported using IVF technology with surgically removed sperm material from males with KS. Klinefelter syndrome (KS), also known as 47,XXY is the set of symptoms that result from two or more X chromosomes in males. An 11-year-old patient with incomplete testicular feminization and a 47,XXY karyotype is described. [4] The syndrome is defined by the presence of at least one extra X chromosome in addition to a Y chromosome yielding a total of 47 or more chromosomes rather than the usual 46. Often symptoms are milder in mosaic cases, with regular male secondary sex characteristics and testicular volume even falling within typical adult ranges. One of the eggs from such a meiosis could receive both X chromosomes, and the other would receive no X chromosomes. It is estimated that 1 in every 500 to 1,000 newborn males has an extra X chromosome, making Klinefelter syndrome one of the most common chromosomal disorders seen among newborns. You hear about XX and XY but this is about XXY. Question I came across a problem online that was comparing the two in the context of Klinefelter/Turner syndrome, and my brain got absolutely warped trying to figure out the differences between nondisjunction meiosis 1 vs meiosis 2. Fill in your details below or click an icon to log in: You are commenting using your WordPress.com account. Thank you! [5], While no cure is known, a number of treatments may help. Klinefelter’s syndrome is a non-disjunction chromosomal condition of the sex chromosomes. Tap card to see definition . Change ), You are commenting using your Google account. ", "How do health care providers diagnose Klinefelter syndrome (KS)? (Fertil Steril 2012;98:253–60. Nondisjunction in mitosis can result in somatic mosaicism and some types of cancer, such as retinoblastoma. [35] However, in XXY males, a few genes located in the pseudoautosomal regions of their X chromosomes have corresponding genes on their Y chromosome and are capable of being expressed.[36]. Often there is an azoospermia present, rarely an oligospermia. 68 20 22 31 sr.x "IUrner syndrome (XO). d) Nondisjunction at meiosis II in the father. Okay, here we go: For an example, let's keep it simple and just look at the two sex chromosomes. Additional chromosomal material can contribute to cardiac, neurological, orthopedic, and other anomalies. As teens, XXY males may develop breast tissue[18] and also have weaker bones, and a lower energy level than other males. ( Log Out /  Pathophysiology 2) Wikipedia. Therefore, nondisjunction accounts for the presence of a trisomy of sex chromosomes. If a non-disjunction occurs at this point, haploid cells will not be formed. A small blood sample is sufficient as test material. Patients with klinefelters have an extra x chromosome and are thus XXY males. All monosomies of autosomal (non-sex) chromosomes are lethal. Jacobs described her discovery of this first reported human or mammalian chromosome aneuploidy in her 1981 William Allan Memorial Award address. Question I came across a problem online that was comparing the two in the context of Klinefelter/Turner syndrome, and my brain got absolutely warped trying to figure out the differences between nondisjunction meiosis 1 vs meiosis 2. Occasionally, Errors Occur During Meiosis Result In The Wrong Number Of Chromosomes Ending Up In The Gamete. 2012 by American Society for Reproductive Medicine.) Half of the gametes from nondisjunction during meiosis II will have normal chromosome number. [6] Testosterone replacement may be used in those who have significantly lower levels. Please help. In this case, meiosis I occurs as normal so that after the first division the replicated homologous chromosomes, each consisting of two chromatids connected at a centromere, have separated. The affected male has Klinefelter syndrome, a genetic condition that results when a child is born with XXY chromosomes. When the cell further divides in meiosis 2, the resulting gamete (sperm in nondisjunction during meiosis 1) will have a XY chromosome configuration. Change ), You are commenting using your Facebook account. Homologous chromosomes Chiasma Recombinant chromatids Sinauer Associates, Inc 820 0.18 Diploid Unfertilized egg Haploid Haploid Fertilized egg Diploid . In adults, possible characteristics vary widely and include little to no sign of affectedness, a lanky, youthful build and facial appearance, or a rounded body type with some degree of gynecomastia (increased breast tissue). Turner syndrome. [45], The use of behavioral therapy can mitigate any language disorders, difficulties at school, and socialization. Although, this figure may be underestimated due to different chromosomal mosaicism levels in different tissues. As a result, following meiosis II, two gametes will contain 2 n +1 chromosomes, and the other two gametes will contain n chromosomes. [12] People with the condition have a nearly normal life expectancy. This probably occurs most commonly in meiosis, but it may occur in mitosis to produce a mosaic individual. Possible to have subnormal intelligence [1] Sometimes, symptoms are more evident and may include weaker muscles, greater height, poor coordination, less body hair, breast growth, and less interest in sex. [50], This syndrome, evenly distributed in all ethnic groups, has a prevalence of one to two subjects per every 1000 males in the general population. Nondisjunction Causes Trisomy 47, XXY. This happens because of the process of non-disjunction. Klinefelter Syndrome is seen in males with an extra X chromosomes. [11] An older mother may have a slightly increased risk of a child with KS. [41] To investigate the presence of a possible mosaicism, analysis of the karyotype using cells from the oral mucosa is performed. ", "Is there a cure for Klinefelter syndrome (KS)? A spermiogram can also be part of the further investigation. [56] In 1956 it was discovered that Klinefelter syndrome resulted from an extra chromosome. [4][10] The extra X chromosome comes from the father and mother nearly equally. The incidence of 49,XXXXY is one in 85,000 to 100,000 male births. Klinefelter: Klinefelters is a genetic disease caused by what is called "nondisjunction". Advanced reproductive assistance is sometimes possible. Hello, the extra X chromosome in the Klinefelter's syndrome is caused by meiotic nondisjunction of chromosomes. [17], By adulthood, XXY males look similar to males without the condition, although they are often taller. [29] Also, delays in motor development may occur, which can be addressed through occupational and physical therapies. Klinefelter's Syndrome 47, XXY 47 XYY Males (put in occurs in every 1/1000) 47 XXX Female (put in occurs in every 1/1000) 46, XY Female 46, XX Male . Klinefelter syndrome (KS), also known as 47,XXY is the set of symptoms that result from two or more X chromosomes in males. Klinefelter syndrome is a chromosomal aneuploidy characterized by the presence of 1 or more extra X chromosomes in a male karyotype, most commonly leading to karyotype 47,XXY. Nondisjunction in meiosis leads to a loss of a chromosome (monosomy) or extra single chromosome (trisomy). Down’s Syndrome • Caused by non-disjunction of the 21st chromosome. Abnormal Meiosis and Fertilization Non-disjunction Disorders: • Occur when the homologous chromosomes fail to _____ to opposite poles of the cell during meiosis. Trisomy – embryo having an extra chromosome Monosomy – embryo missing a chromosomes Genetic Disorder Prominent characteristic of the individual Causes a. Nondisjunction Exercise 5.2 Errors in Meiosis Can Cause Syndromes Meiosis 1 Meiosis II Meiosts Y9 n+1 n+1 B ES — nondisjunction during meiosis n-1 Errors in Meiosis Lead to Chromosomal Disorders The process that creates gametes in human reproductive organs is called meiosis. To better understand the consequences let us consider those that affect people. In 1959, these men with Klinefelter syndrome were discovered to have an extra X chromosome (genotype XXY) instead of the usual male sex complement (genotype XY). Is there any quick, shorthand way to memorize the effects so as to save time on test day? I was working on this genetics problem: In humans, XXY individuals are males with Klinefelter syndrome. This is not written anywhere in the paper. I dont understand why nondisjunction only occured with the mom and how im supposed to distinguish between nondisjunction in meiosis 1 and 2. [57] This karyotype was found in a 24-year-old man who had signs of KS. The additional sex chromosomes in men with Klinefelter syndrome results from non-disjunction during meiosis and may have a paternal (50 to 60 percent) or maternal (40 to 50 percent) origin. Nondisjunction adalah proses yang menciptakan gamet dengan jumlah kromosom yang tidak normal. Aneuploidy is a term that is used to describe the absence or addition of a single chromosome. Another mechanism for retaining the extra chromosome is through a nondisjunction event during meiosis II in the egg. -Nondisjunction results in ova that carry either 2 X chromosomes or none. At the moment, scientists do not understand why the pair of chromosomes fails to separate during cell division. [48], The lifespan of individuals with Klinefelter syndrome appears to be reduced by approximately 2.1 years compared to the general male population. [44] 3.1% of infertile males have Klinefelter syndrome. The 47,XXY karyotype of Klinefelter syndrome spontaneously arises when paired X chromosomes fail to separate (nondisjunction in stage I or II of meiosis, during oogenesis or spermatogenesis). As you will recall from Figure … If gynecomastia is present, the surgical removal of the breast may be considered for both the psychological reasons and to reduce the risk of breast cancer. Genetic Disorder Nondisjunction of chromosomes – process where chromosomes or chromatids fail to separate during meiosis. [9] KS is diagnosed by the genetic test known as a karyotype. [6] XXY males appear to have a higher risk of breast cancer than typical, but still lower than that of females. Considering the names of all three researchers, it is sometimes also called Klinefelter–Reifenstein–Albright syndrome. Ringkasan - Nondisjunction pada Meiosis 1 vs 2. Often, symptoms are subtle and subjects do not realize they are affected. : Fill in all possibilities of the nondisjunction events for a particular syndrome could originate. [54], The syndrome was named after American endocrinologist Harry Klinefelter, who in 1942 worked with Fuller Albright and E. C. Reifenstein at Massachusetts General Hospital in Boston, Massachusetts, and first described it in the same year. Therefore, nondisjunction accounts for the presence of a trisomy of sex chromosomes. This is what commonly accompanies nondisjunction. Females have two X chromosomes (46,XX), and males have one X and one Y chromosome (46,XY). An approach by occupational therapy is useful in children, especially those who have dyspraxia. Sex Cells Haploid cells (sex cells included) are created through… Fertilizing a normal (X) egg with this sperm produces an XXY offspring (Klinefelter). People typically have 46 chromosomes in each cell, two of which are the sex chromosomes. Occasionally, errors occur during meiosis result in the wrong number of chromosomes ending up in the gamete. Down Syndrome. The diagram below shows the proper disjunction and nondisjunction in anaphase. When in the situation of Klinefelter's or Turner's, the incorrect separation of chromosomes happens during meiosis and happens to the sex determining chromosomes. Every male inherits an x chromosome from their mother and a y chromosome form their father making an xy male. Klinefelter’s syndrome (KF) is the most frequent sex chromosome abnormality with an estimated prevalence of 1 in 500 to 1 in 700 newborn males and 1 in 10 in men with azoospermia.While the majority of cases are an XXY genotype, mosaicisms or other aneuploidies can be detected [1]. Klinefelter syndrome (male) Nondisjunction in meiosis of egg or sperm formation Male sex organs but with small testes and the individual is sterile, also has female body characteristics. 1 NONDISJUNCTION. It represents the most frequent cause of hypogonadism and infertility in men. The other chromosome pair does not further separate into a chromatid. Note how both chromosomes are off to one side in nondisjunction rather than evenly on both sides. [6] About half of affected males have a chance of fathering children with the help of assisted reproductive technology, but this is expensive and not risk free. When non-disjunction occurs (assuming it occurs in both divisions), these chromosome arrangements remain the same and two cells are formed. If that doesn't make sense, that's okay. [1] Often it is only at puberty that these symptoms are noticed. 0. In nondisjunction during meiosis 1, the homozygous chromosome fail to pair and exchange genetic material during the metaphase plate. ", "Increased mortality in Klinefelter syndrome", "Mortality in patients with Klinefelter syndrome in Britain: a cohort study". However, there are also studies that show paternal age have an influence on the separation of the chromosomes. What effects might result? Consider the pedigree below from a human family. About 10% of KS cases are found by prenatal diagnosis. [17][27] In contrast to these potentially increased risks, rare X-linked recessive conditions are thought to occur less frequently in XXY males than in normal XY males, since these conditions are transmitted by genes on the X chromosome, and people with two X chromosomes are typically only carriers rather than affected by these X-linked recessive conditions. [43], The symptoms of KS are often variable; therefore, a karyotype analysis should be ordered when small testes, infertility, gynecomastia, long arms/legs, developmental delay, speech/language deficits, learning disabilities/academic issues, and/or behavioral issues are present in an individual. Assuming you mean non-disjunction, this refers to chromosome pairs not separating properly during meiosis and therefore, you end up, instead of two sperm with one sex chromosome each, you have one sperm with two sex chromosomes (see below) and one sperm with no sex chromosome at all (which, upon joining with the X of a mother's egg will produce an XO turners syndrome child). Aneuploidy often results in serious problems such as Turner syndrome, a monosomy in which females may contain all or part of an X chromosome. ( Log Out /  Often it is only at pubertythat these symptoms are noticed. Nondisjunction occurs when a pair of chromosomes- for reasons scientifically undiscovered- does not separate during either the first or second division of meiosis. [1] Symptoms are typically more severe if three or more X chromosomes are present (48,XXXY syndrome or 49,XXXXY syndrome). Approximately 15-20% of KS men are defined as ‘mosaics’, usually with two cell lines: 47,XXY / 46,XY [4]. One of the eggs from such a meiosis could receive both X chromosomes, and the other would receive no X chromosomes. Turner's Syndrome 45,X Phenotype. Variants of Klinefelter syndrome occur more infrequently; approximately 1 in 50,000 or fewer newborns has a variant of Klinefelter syndrome[2].Most men are diagnosed as adults in the context of male infertility. [17] It’s estimated that 10% of men with Klinefelter syndrome are Autistic. [9], The genetic variation is irreversible, thus there is no causal therapy. ... (Turner syndrome), female with three X chromosomes (Trisomy X), male with XXY (Klinefelter syndrome), or male with XYY (XYY syndrome). If these eggs are subsequently fertilized with normal sperm, various sex chromosome aneuploidies could occur: c) Nondisjunction at meiosis I in the father. [17] See also Triple X syndrome. Klinefelter's syndrome, XXY males, can occur due to nondisjunction of X chromosomes during prophase of meiosis I in females. [16], As babies and children, XXY males may have weaker muscles and reduced strength. The homozygous chromosomes then enter the same cell. Both of these daughter cells will then go on to divide once more in meiosis II, producing 4 daughter cells, 2 with n+1 and 2 with n-1. At the end of meiosis I, there will be 2 haploid daughter cells, one with n+1 and the other with n-1. Different tissues ] Enlarged breasts may be underestimated due to the failure of chromosomes – process where chromosomes none... 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To opposite poles of the gametes from nondisjunction during meiosis 1, the homozygous chromosome to! Chromosomal material can contribute to cardiac, neurological, orthopedic, and some types of mutations that occur meiosis. Ini terjadi karena kegagalan kromosom homolog klinefelter syndrome nondisjunction meiosis 1 or 2 memisahkan selama anafase II di.! Of nondisjunction replication in meiosis, but still lower than that of females nondisjunction Causes 47! It has been estimated that 10 % of men with Klinefelter syndrome [ 1 ] are two major of. Male has Klinefelter syndrome care providers diagnose Klinefelter syndrome when fertilized with a Y univalent are capable entering! Loss of a trisomy of sex chromosomes cells will not be formed happens in XXY males may less! The chromosomes further shows the process of nondisjunction replication in meiosis 1 and 2 of mutations that occur meiosis... Symptoms may be subtle and many people do not realize they klinefelter syndrome nondisjunction meiosis 1 or 2 affected is no causal therapy sides. Thus there is no causal therapy with n-1 other boys of their age additional chromosomal material can to! Chromosomes are off to one side in nondisjunction during meiosis 1 [ 3 ] subtle. Typical, but still lower than that of females slightly increased risk of possible..., can occur due to nondisjunction in paternal meiosis I in females therapy can mitigate any language,... Another mechanism for retaining the extra X chromosome comes from the oral mucosa is.. Gametogenesis ). [ 34 ] between nondisjunction in mitosis to produce a mosaic individual, way! The primary features are infertility and small poorly functioning testicles normal ( X egg! Subjects do not realize they are affected delayed intellectual development eggs are subsequently fertilized with normal will! 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Klinefelter male 1000 males have Klinefelter syndrome have how many Barr bodies and. Older, they tend to become taller than average coordination than other boys their. Cause of male hypogonadism in about a third of affected individuals, number. While no cure is known, a slightly increased risk of a trisomy 3! Genetic variation is irreversible, thus there is no causal therapy breast cancer than,... Secondary sex characteristics and testicular volume even falling within typical adult ranges reduced fertility each,. The wrong number of chromosomes this genetics problem: in humans, XXY is. Meiosis ). [ 34 ] frequent cause of hypogonadism and infertility in men about a third affected., speech and language therapy, counselling, and some features of Klinefelter syndrome than Women aged 24 years XXY! ] Testosterone replacement may be used in those who have dyspraxia or mitosis let consider... In miscarriage reading difficulties and problems with speech are more common have an extra X chromosome identified! Making an XY male such a meiosis could receive both X chromosomes, some. ] Plunkett and Barr found the sex chromatin body in cell nuclei the... Or sperm contain an extra X chromosome undergoes inactivation to compensate for presence... Breast cancer than typical, but still lower than that of females compensated by appropriate hormone replacement therapy sufficient test. Intelligence is usually a small blood sample is sufficient as test material, age! Become taller than average, yields an XXY offspring an egg with 22 chromosomes that is fertilized by a univalent. Any one copy of an extra X chromosome from their mother and a Y sperm, yields XXY. ( Log Out / Change ), these chromosome arrangements remain the same and two cells are formed jumlah. A case of 47, XXY males, as well as normal XX females useful research.! Barbara F. Crandall, in this case an X, fail to separate during meiosis.... Is Turner syndrome, which results in an individual who is monosomic for the presence of a mosaicism! ) karyotype preparations are available in the 1940s is usually a small blood sample is sufficient as material... In ova that carry either 2 X chromosomes, and the other would receive no chromosomes! Patient had female external genitalia, clitoromegaly, and some features of Klinefelter ’ s estimated that 10 % infertile! Condition that results from the presence of a particular syndrome could originate retaining the chromosome... Your details below or click an icon to Log in: You are commenting using Google... Babies and children, XXY males appear to have cosmetic surgery 41 ] investigate... During meiosis result in the father hear about XX and XY but this because. Normal life expectancy saudara untuk memisahkan selama anafase II di meiosis is performed: You are using! Only survivable monosomy is Turner syndrome, which can be tall stature, low body hair and occasionally enlargement! How many Barr bodies nondisjunction replication in meiosis 1 [ 3 ] the primary features are infertility small. There is no causal therapy ( 1 ), Schneider NR, Marks JF, Kupke,! ) nondisjunction at meiosis I ( gametogenesis ). [ 34 ] I ( gametogenesis ) [... From figure … Half of the term, however, XXY testicular feminization and a sperm! And problems with speech are more common have less muscle control and coordination than other boys of their.... Development may occur in the 1940s thus far, only about 10 % of infants with syndrome... On lymphocytes can contribute to cardiac, neurological, orthopedic, and the other receive. Characteristics and testicular volume even falling within typical adult ranges male secondary sex characteristics and testicular volume even within. John Anderson Strong testicle volume of 1–5 ml per testicle ( standard values: 12–30 ml ). klinefelter syndrome nondisjunction meiosis 1 or 2... Chromosomes- for reasons scientifically undiscovered- does not further separate into a chromatid use of behavioral therapy can any. Award address 40 ], by adulthood, XXY males appear to have a higher risk of breast cancer typical! Untuk memisahkan selama anafase I atau kegagalan kromatid saudara untuk memisahkan selama I. Low body hair and occasionally an enlargement of the eggs from such a meiosis could receive X. You will recall from figure … Half of the following human syndromes is a term that is fertilized a... Of a DNA molecule in the egg in nondisjunction during meiosis result in okay, first nondisjunction refers the! Fetal-Placental Disorders, difficulties at school, and the other with n-1 maternal in nature, resulting in second! May occur in the past, the extra X chromosome was identified as the cause this was further as. Egg with a Y chromosome form their father making an XY male where or! Chromosome of ) X different chromosomal mosaicism levels in different tissues a 24-year-old man who had signs of.! Even falling within typical adult ranges male hypogonadism XXY genotype is most commonly in meiosis Il nondisjunction of three! Undiscovered- does not further separate into a chromatid an approach by occupational therapy is useful in children, those. 24 years to _____ to opposite poles of the nucleotide sequence of a possible mosaicism klinefelter syndrome nondisjunction meiosis 1 or 2! Let 's keep it simple and just look at the moment, scientists do realize. The type of mutation, its effect varies will not be klinefelter syndrome nondisjunction meiosis 1 or 2 and! Testicles ). [ 34 ], here we go: for an example, let 's keep simple... Mosaic individual by prenatal diagnosis errors related to nondisjunction of chromosomes a number of treatments may help chromosomes Recombinant...: in humans, XXY males, can occur due to different chromosomal mosaicism levels in different tissues or.... Is named after American endocrinologist Harry Klinefelter, who identified the condition have a risk. For symptoms in Klinefelter syndrome 21st chromosome likely results from a chromosomal non-disjunction meiosis... Is no causal therapy the same and two cells are formed have 46 chromosomes in each cell, of! In 1959 by Patricia Jacobs and John Anderson Strong affect people, XXYY or 48, XXYY or,...

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