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Down syndrome translocation

Translocation Down syndrome is a type of Down syndrome that is caused when one chromosome breaks off and attaches to another chromosome. In this case, there are three 21 chromosomes but one of the 21 chromosomes is attached to another chromosome. The genetic material from the extra 21 chromosome is what causes the health problems that are caused by. Translocation Down syndrome refers to the type of Down syndrome that is caused by rearranged chromosome material. In this case, there are three # 21 chromosomes, just like there are in trisomy 21, but one of the 21 chromosomes is attached to another chromosome, instead of being separate. The extra copy of the # 21 chromosome is what causes the health problems that are associated with Down syndrome Translocation Down syndrome happens when an extra copy of chromosome 21 is attached to another chromosome. This is then present in all cells of the body. Chromosomes contain all of the genetic information that tells our body how to grow and function. Most people have 46 total chromosomes (23 pairs) in every cell in their body A similar translocation accounts for cases in which Down's Syndrome is inherited or Familial. The instances of Down's syndrome are due to trisomy 21. This chromosomes result from non-disjunction during meiosis of one parent. The down syndrome typically is caused by the existence of a part of the third copy of chromosome 21 or by all Down syndrome is a chromosomal abnormality characterized by the presence of an extra copy of genetic material on chromosome 21, either in whole (trisomy 21) or part (such as due to translocations). The effects of the extra copy varies greatly from individual to individual, depending on the extent of the extra copy, genetic background, environmental factors, and random chance

Translocation Down Syndrome - Stanford Children's Healt

File:Robertsonian translocation rob(14;21)

The Robertsonian translocation is unbalanced and the baby has three copies of the long arm of chromosome 21 instead of two. This causes a type of Down's syndrome called translocation Down's syndrome. The effects on the baby are exactly the same as when Down's syndrome is caused by having an extra entire chromosome 21 The theoretic recurrence risk for a Robertsonian carrier parent to have a liveborn offspring with Down syndrome is 1 in 3. However, only 10-15% of the progeny of carrier mothers and only 2-3% of.

How Is Down Syndrome Inherited? | New Health Guide

Translocation Down Syndrome. Down syndrome is the type of genetic disorder characterized by additional genetic material being passed down to the offspring at conception. In most cases one whole extra chromosome 21 is inherited, and in other instances only parts of the material from the additional chromosome 21 are passed on Translocation Down syndrome is a type of Down syndrome that is caused when one chromosome breaks off and attaches to another chromosome. In this case, there are three 21 chromosomes, but one of the 21 chromosome

Down syndrome is usually caused by an error in cell division called nondisjunction. Nondisjunction results in an embryo with three copies of chromosome 21 instead of the usual two. Prior to or at conception, a pair of 21st chromosomes in either the sperm or the egg fails to separate Chromosomal translocation that results in 3 copies of the critical region for Down syndrome Mosaicism In 94% of patients with Down syndrome, full trisomy 21 is the cause; mosaicism (2.4%) and translocations (3.3%) account for the remaining cases Growth charts for children with Down syndrome in the United States are available for download below. These charts can help healthcare providers monitor growth among children with Down syndrome and assess how well a child with Down syndrome is growing when compared to peers with Down syndrome

What is Down syndrome? Down syndrome (sometimes called Down's syndrome) is a condition in which a child is born with an extra copy of their 21st chromosome — hence its other name, trisomy 21. This.. Down syndrome or Down's syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. It is usually associated with physical growth delays, mild to moderate intellectual disability, and characteristic facial features. The average IQ of a young adult with Down syndrome is 50, equivalent to the mental ability of an 8- or 9-year.

Down Syndrome by Tyra Rose

Translocation Down syndrome. Down syndrome can also occur when a portion of chromosome 21 becomes attached (translocated) onto another chromosome, before or at conception. These children have the usual two copies of chromosome 21, but they also have additional genetic material from chromosome 21 attached to another chromosome Donate here: http://www.aklectures.com/donate.php Website video link: http://www.aklectures.com/lecture/down-syndrome-trisomy-21-and-translocation Facebook l..

Sometimes, a parent who does not have Down syndrome may carry a translocation in chromosome 21 that can be passed on to children and cause Down syndrome. Studying the parents' chromosomes can reveal whether this is the cause of the syndrome Translocation accounts for about 4% of all cases of Down Syndrome. In Translocation, part of chromosome 21 breaks off during cell division and attaches to another chromosome -- generally chromosome 14. While the total number of chromosomes in the cells remains 46, the presence of an extra part of chromosome 21 generates the characteristics of. Translocation Down syndrome also has three copies of chromosome 21, but one of the 21 chromosomes is attached to another chromosome instead of being separate (affecting 3-4% of cases)

10 Interesting Down syndrome Facts | My Interesting Facts

Learn about Robertsonian Translocation, a type of Down Syndrome called ROB in an animationDown syndrome Non Disjunction form https://youtu.be/kOZ6d8iOjfgMosi.. Down syndrome is a genetic disorder caused when abnormal cell division results in an extra full or partial copy of chromosome 21. This extra genetic material causes the developmental changes and physical features of Down syndrome. Down syndrome varies in severity among individuals, causing lifelong intellectual disability and developmental delays Down syndrome (DS) is one of the commonest disorders with huge medical and social cost. DS is associated with number of phenotypes including congenital heart defects, leukemia, Alzeihmer's disease, Hirschsprung disease etc. DS individuals are affected by these phenotypes to a variable extent thus understanding the cause of this variation is a key challenge Reciprocal translocation carriers have reduced fertility, increased risk of spontaneous abortion or unbalanced karyotype in their offspring. Here, we report the inheritance of a translocation between chromosomes 12 and 16 in a family with recurrent miscarriages and a newborn with Down syndrome carrying the same translocation Translocation Down syndrome: This type accounts for a small percentage of people with Down syndrome (about 3%). 2 This occurs when an extra part or a whole extra chromosome 21 is present, but it is attached or trans-located to a different chromosome rather than being a separate chromosome 21

Translocation Down Syndrome Children's Hospital of

Summary. Down syndrome, also known as trisomy 21, is the most common autosomal chromosome aberration, occurring in approximately 1:700 live births. The risk of a trisomy 21 pregnancy rises with increasing maternal age. Clinically, trisomy 21 manifests as a syndrome involving a characteristic appearance, organ malformations, and mental disability.Typical facial features include upward slanting. Translocation Down Syndrome. Translocation Down syndrome is a type of Down syndrome that is caused when one chromosome breaks off and attaches to another chromosome. In this case, there are three 21 chromosomes but one of the 21 chromosomes is attached to another chromosome Translocation Down Syndrome. Translocation Down syndrome is a type of Down syndrome that is caused when one chromosome breaks off and attaches to another chromosome. In this case, there are three 21 chromosomes, but one of the 21 chromosomes is attached to another chromosome The third type, translocation Down syndrome, occurs when the extra chromosome in the 21 pair breaks off and attaches itself to another chromosome. Translocation Down syndrome is the only type that may be inherited. A parent who possesses a balanced translocation—a chromosome rearrangement with no extra genetic material from chromosome 21—can pass the translocation to an offspring

For the translocation Down Syndrome cases, parents were investigated to determine the parental carrier status. Results: 38 cases of Trisomy 21 were detected. Free Trisomy 21 was found in 92.11%. In some cases, the translocation can result in a genetic disorder, such as trisomy 13 or Down syndrome. Babies born with trisomy 13 usually die within the first days or weeks of life The observed figures for Robertsonian translocation carriers involving chromosome 21 having a live born baby with Down syndrome are 10% if the mother is the translocation carrier, and 2.5% if the father is the translocation carrier. Diagrams of translocation segregation from Human Molecular Genetics (Strachan and Read

Genetics 25 (Cytogenetics) at St George's University

3 to 4 percent of babies born with Down syndrome have translocation Down syndrome. Whenever a translocation is found in a child, the parents' chromosomes are studied to determine whether the translocation was inherited or not. If one parent has the translocation chromosome, then the doctor knows the baby inherited the translocation from that. translocation Down syndrome gene carriers; previous pregnancy with Down syndrome; Clinical presentation. Diagnosis is often made antenatally and this must occur in conjunction with genetic counseling, which should begin prior to the testing. In the postnatal period, characteristic phenotypical features point to the diagnosis: depressed nasal bridg

• Translocation Down syndrome is often referred to as familial Down syndrome. • It is the cause of 2-3% of observed cases of Down syndrome • It does not show the maternal age effect, and is just as likely to have come from fathers as mothers 38. • Though Down syndrome can't be prevented, it can be detected before a child is born Complete trisomy 21 vs translocation Down syndrome: a comparison of modes of ascertainment. Bornstein E, Lenchner E, Donnenfeld A, Jodicke C, Keeler SM, Kapp S, Divon MY Am J Obstet Gynecol 2010 Oct;203(4):391.e1-5 Translocation Down syndrome • Down syndrome can also occur when part of chromosome 21 becomes attached (translocated) onto another chromosome, before or at conception • Children with translocation Down syndrome have the usual two copies of chromosome 21, but they also have additional material from chromosome 21 attached to the translocated.

Translocation Down syndrome: What you need to kno

Translocation Down syndrome represents about 4% of all instances of Down syndrome. Most of the time, that translocation is random. Sometimes, the translocated chromosome is passed down from a parent who is known as a balanced carrier Translocation down syndrome definition at Dictionary.com, a free online dictionary with pronunciation, synonyms and translation. Look it up now Unbalanced translocation (3-4% of cases) 50% of cases a parent carries a balanced translocation; 50% of the unbalanced translocations are de novo and occur during fertilization; Recurrence risk is 100% for a parental 21:21 translocation; For a 21:14 translocation, recurrence is 16% if in the mother and 5% if in the father; Mosaicism (1-2% of cases

Translocation Mutation - What is Down Syndrome and

Translocation Down Syndrome occurs when an extra copy of chromosome 21 is attached to another chromosome. It happens in every cell in the body due to the fact that every cell contains the same DNA. Most people have 46 total chromosomes in every cell, but there are some cases where there is an extra chromosome(s) As 4% of people with Down's syndrome have the translocation type, and one third of this group have inherited it, only about 1% of people with Down's syndrome have inherited the condition. Is age a factor in translocation Down's syndrome? No. unlike regular trisomy 21, translocation occurs equally frequently whatever the age of the parents

Down syndrome and cervical spine | Musculoskeletal Issues

Genetics of Down syndrome - Wikipedi

Translocation Down syndrome is the only form of the disorder that can be passed from parent to child. However, only about 4 percent of children with Down syndrome have a translocation. And only about one-third of these children inherited it from one of their parents. Risk Factors. Some parents have a greater risk of having a baby with Down. Detailed information on translocation Down syndrome. Skip to topic navigation. Skip to main conten

In translocation Down syndrome, the extra 21 chromosome may be attached to the #14 chromosome, or to #s13, 15, or 22. In some cases, two #21 chromosomes can be attached to each other. Three to 4 percent of babies born with Down syndrome have translocation Down syndrome In a small percentage of cases, Down syndrome is caused by a translocation of genetic material on chromosome 21. Risk for Down syndrome is associated with maternal age. The pathways from genotype to phenotype in Down syndrome are currently not well characterized. However, current studies aim to identify how the additional chromosomal material. Translocation Down syndrome is a type of Down syndrome that is caused when one chromosome breaks off and attaches to another chromosome. In this case, there are three 21 chromosomes but one of the 21 chromosomes is attached to another chromosome

Chapter 8 Chromosome Mutations

We did the amniocentesis to confirm our baby's Down syndrome diagnosis. His karyotype came back with a Robertsonian translocation of 13/14. So he doesn't have translocation Down syndrome but another translocation that is associated with increased risk of having a Trisomy 13 The recurrence risks for Down syndrome due to an inherited translocation are estimated from empirical data in the literature for two maternal age groups: mothers under 30 and mothers 30 and over. These risks were found to be approximately 0.3% and 0.05%, respectively. The probability for two Down sy

Translocation and Down Syndrome

  1. Ninety-five percent of all people with Down syndrome have Trisomy 21. Translocation accounts for only 3% to 4% of all cases. In translocation a part of chromosome #21 breaks off during cell division and attaches to another chromosome. The presence of an extra piece of the 21st chromosome causes the characteristics of Down syndrome
  2. Robertsonian translocation 21q21q was found in a woman who had multiple pregnancies in which the outcome was either Down syndrome or abortion. Three live children had Down syndrome and there were five spontaneous abortions. Down syndrome occurs in approximately one of 750 live births 1 and is associated with a variety of karyotypes.
  3. In translocation, which accounts for about 4% of cases of Down syndrome, the total number of chromosomes in the cells remains 46. However, an additional full or partial copy of chromosome 21 attaches to another chromosome, usually chromosome 14. The presence of the extra full or partial chromosome 21 causes the characteristics of Down syndrome
  4. Down's syndrome (DS), or trisomy 21, is the most common genetic form of intellectual disability, occurring in 1 in 691 births. Parker SE, Mai CT, Canfield MA, et al. Updated National Birth Prevalence estimates for selected birth defects in the United States, 2004-2006

Translocation Down syndrome occurs in 3-4% of the cases of Down syndrome. In Translocation Down syndrome a part of the Chromosome 21 breaks off and attaches itself to another chromosome. Often this is Chromosome 14. While the cells will have 46 chromosomes, they will each have an extra piece of Chromosome 21 Translocation Down syndrome: Sometimes a part of chromosome 21 is translocated, or becomes attached to another chromosome, before or during conception. This results in children having the usual pair of chromosome 21, but additional genetic material from chromosome 21 is attached to another chromosome Detailed information on translocation Down syndrome. Phoenix Children's Hospital. Skip to main conten Down syndrome occurs in about 1 in every 700 babies. Approximately 6,000 babies are born with Down syndrome in the United States each year. The rate of Down syndrome cases in the US increased by about 30% between 1979 and 2003. Down syndrome is the most common genetic chromosomal disorder, and it is the leading cause of learning disabilities in. Down syndrome, also known as trisomy 21, is a genetic disorder that occurs when a person has a full or partial extra copy of chromosome 21. It's characterized by a variety of distinctive physical features, an increased risk of certain medical problems, and varying degrees of developmental and intellectual delays

Down Syndrome: Causes, Symptoms, Diagnosis, & Treatmen

  1. Sometimes the extra number 21 chromosome or part of it is attached to another chromosome in the egg or sperm. This may cause translocation Down syndrome. This is the only form of Down syndrome that may be inherited from a parent. A rare form is called mosaic trisomy 21
  2. The translocation chromosome replaces one of the normal acrocentrics. The karyotype of a person with DS and a Robertsonian translocation between chromosomes 14 and 21 is indicated as 46,XX or XY, der(14;21)(q10;q10),+21. Translocation DS has a relatively high chance of recurrence in families when one of the parents is a carrier of the.
  3. Background : Down syndrome also known as Trisomy 21 is a genetic disorder associated with presence of whole or part of third copy of chromosome 21. It is typically associated with characteristic facial features with varying degree of intellectual disability. The frequency of Down syndrome in Indian population is roughly estimated at 1 in every 920 live births
down syndrome and klinefelters syndrome

Robertsonian Translocation: Definition, Symptoms

  1. Although Down syndrome has been reported to result from a Robertsonian translocation in 3-5% of cases (Hamerton, 1971; Cortes et al, 1990), studies investigating differences between translocated Down syndrome and trisomy 21 Down syndrome individuals have not been reported
  2. Down syndrome is a chromosome disorder associated with intellectual disability, a characteristic facial appearance, with small nose and an upward slant to the eyes, and low muscle tone in infancy. The degree of intellectual disability varies from mild to moderate. People with Down syndrome may also be born with various health concerns such as heart defects or digestive abnormalities, as well.
  3. The recurrence risk for mosaic Down Syndrome is 1-2%. For an unbalanced translocation, then recurrence risk will depend on whether one of the parents has a balanced translocation. The recurrence risk if the mother is a carrier is 12%, and 1% if the father is a carrier. Other Neonatal Health Issue
  4. translocation [trans″lo-ka´shun] the attachment of a fragment of one chromosome to a nonhomologous chromosome. Translocation of a portion of one chromosome to another chromosome. Redrawn from Damjanov, 2000. reciprocal translocation the mutual exchange of fragments between two broken chromosomes, one part of one uniting with part of the other.
  5. In translocation Down syndrome, the extra 21 chromosome may be attached to the #14 chromosome, or to other chromosome numbers like 13, 15, or 22. In some cases, two #21 chromosomes can be attached to each other. Three percent to 4 percent of babies born with Down syndrome have translocation Down syndrome

  1. Translocation: Translocation accounts for 3 to 4 percent of all cases of Down syndrome (Robinson, 2006). This type of Down syndrome occurs when part of chromosome 21 breaks off during cell division and attaches to another chromosome. The most common chromosome it attaches to is chromosome number 14
  2. Translocation: Translocation Down Syndrome occurs when the total number of chromosomes equals 46 but there is an additional piece or full copy of the 21st chromosome that attaches itself to another chromosome usually the 14th. The copy of the 21st chromosome either full or partial is what causes the characteristics of Down Syndrome
  3. Translocation Down Syndrome Translocation is caused when a piece of chromosome 21 is located on another chromosome such as chromosome 14 or 22. A person with translocation trisomy 21 will have 46 chromosomes but will have the genetic material of 47 chromosomes
  4. Other articles where Translocation Down syndrome is discussed: Down syndrome: Types of Down syndrome: The third type, translocation Down syndrome, occurs when the extra chromosome in the 21 pair breaks off and attaches itself to another chromosome. Translocation Down syndrome is the only type that may be inherited. A parent who possesses a balanced translocation—a chromosome rearrangement.
  5. The recurrence risk of Down syndrome depends on how the baby acquired the Down syndrome. If the mother is a 'balanced translocation' carrier to another chromosome (usually 13, 14, 15, 22), then the recurrence risk is about 1 in 8
  6. Down Syndrome (Trisomy 21) • Incidence 1:650 births •Strongly associated with increased maternal age, but can occur at any age •Always genetic, but only a small proportion inherited (trisomy 21 (95%) vs translocation) •Characteristic physical features •Cardiac anomalies (50%) •Developmental delays •Risk for immunodeficiency.
PPT - Genetic disorders PowerPoint Presentation, free

How does the type of translocation affect recurrence risk

الانتقال الصبغي أو الكروموسومي: (بالإنجليزيّة: Translocation Down syndrome) ويحدث هذا النوع نتيجة انفصال جزئي أو انفصال كامل لكروموسوم 21 الإضافي؛ بحيث يكون الزوج رقم 21 من الكروموسومات طبيعياً، ولكن هناك. The genetic arrangement between chromosome 21 and other chromosome in the parent remains balanced and is called translocation and results in no health concerns but when these cells are passed on to the offspring there may be imbalance of the cells leading to the child having an extra copy of the chromosome 21 causing Down Syndrome

Treatment for DS: Down syndrome translocation Children's

What is Down Syndrome: Genetics. If you are a new parent one of your first questions may be What is Down syndrome? (This by the way, was one of my husbands first questions when Noah was born.) Down syndrome (Trisomy 21) is a chromosomal abnormality where a child is born with three copies of the 21st chromosome (Just like in the picture!). Down syndrome occasionally runs in families (usually translocation of chromosome 21) Patau and Edwards syndrome o Offspring have severe malformations o Lethal Turners syndrome o n-1 o the infant, if survives to term, will have turners syndrome Discuss how sex is determined in humans and other organisms usually, XX is female and XY is male Y chromosome contains fewer genes than X Sex.

Translocation Down Syndrome Loma Linda University

(See Down syndrome: Overview of prenatal screening and Congenital cytogenetic abnormalities, section on 'Trisomy 21 (Down syndrome)' and Down syndrome: Clinical features and diagnosis.) General issues related to management of adults with intellectual disability, and problems related to DS specifically, are discussed in detail separately The risk is so low because the Down syndrome is the result of a one-off accident. Balanced translocations are a bit different. Moms and, to a lesser extent, dads can pass Down syndrome to their kids which means a higher risk. This is even though the parents do not have Down syndrome themselves. They are silent carriers Detailed information on translocation Down syndrome. Physician Referral 877.233.WELL (9355 In translocation Down syndrome, karyotyping of the parents and other relatives is required for proper genetic counseling (see the images below). G-banded karyotype showing trisomy 21 (47,XY,+21). View Media Gallery. G-banded karyotype showing trisomy 21 of isochromosome arm 21q type [46,XY,i(21)(q10)]

Translocation occurs in about 3 to 4 percent of people with Down syndrome. In this type, an extra part of the 21st chromosome gets stuck onto another chromosome. In about half of these situations, one parent carries the extra 21st chromosome material in a balanced or hidden form Detailed information on translocation Down syndrome. Pediatric Health Library. Translat Etiology Causes of Down syndrome. The underlying cause of the condition is a trisomy — a triple set of chromosomes.In Down syndrome, there is an extra chromosome 21, resulting in 3 instead of 2 chromosomes. On a cytogenetic level, the following possibilities could lead to trisomy 21.. Free trisomy 21: In >90% of all cases, the surplus chromosome 21 is free

Keywords : Down syndrome, cryptic translocation, FISH Accepted February 01 2012 Introduction Down syndrome DS the most frequent form of mental retardation caused by a chromosomal aberration is charac-terized by well-defined and distinctive phenotypic fea- tures and caused by trisomy of all or a critical portion of. Once fertilized, that egg then has a total of three chromosomes. This is the most common way Down syndrome occurs. Translocation trisomy 21: In a translocation, there are two copies of chromosome 21, but extra material from a third 21st chromosome is attached (translocated to) another chromosome. This type of Down syndrome may occur either. The most common cause of Down syndrome is trisomy 21, where the embryo gets three copies of chromosome 21, instead of two. Translocation describes a less common cause of Down syndrome in which an extra piece of chromosome 21 attaches to another chromosome. Other down syndrome

Translocation: In translocation, which accounts for about four percent of cases of Down syndrome, the total number of chromosomes in the cells remains 46; however, an additional full or partial copy of chromosome 21 attaches to another chromosome, usually chromosome 14 Most cases of Down's syndrome result from free trisomy of chromosome 21, but in about 5% of Down's syndrome cases the abnormality is a Robertsonian translocation.1 Translocation type Down's syndrome may either be de novo or inherited from a balanced carrier parent. Theoretically a balanced 21 Robertsonian translocation carrier person (13/21, 14/21, 15/21, 22/21) has a 25% risk of having Down's. Down syndrome (DS) or trisomy 21 is the most common genetic disorder with a prevalence of 1 in 660 live births . In 1959, Lejeune and colleagues discovered the genetic basis of DS and named as trisomy of chromosome 21, which is the smallest human autosomal chromosome . Trisomy 21 can occur as three types of chromosomal abnormalities: free. Mosaic Down Syndrome and Translocation Down Syndrome are much rarer, accounting for 4% and 1% of all cases. Symptoms can vary greatly from one case to another. Down syndrome isn't the same across the board. Cases vary from mild to severe. Symptoms may include some or all of the below: Small Head; Flattened Facial Features; Eyes with An Upward. TRANSLOCATION of Down's syndrome usually involves chromosomes in groups D (13-15) and group G (21-22). Although it only accounts for about 3% to 4% of all cases of Down's syndrome and is sporadic in most cases, it is important because it may be inherited from phenotypically normal carriers translocation Down syndrome - where part of chromosome 21 is broken off and is then attached (translocated) onto another chromosome. This can occur before or at conception. This form of Down syndrome is uncommon, occurring in about three to four per cent of people with the condition

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