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*  Rare Chromosome Disorders | Frankie's Legacy: Love, Loss Grief & Recovery
Rare chromosome disorders include extra, missing or re-arranged chromosome material but do not include the more common chromosome conditions such as Down's Syndrome. Using the latest technology, it is now possible for smaller and more complex chromosome defects to be identified. The amount of chromosome material duplicated, missing or re-arranged can vary a great deal. This means that it may be difficult to identify two people who have exactly the same chromosome disorder. The clinical problems of those affected can also vary enormously even when the chromosome diagnoses are similar.. Individually rare chromosome disorders are indeed very rare but collectively they are common. In fact at least one in every 200 babies is born with a rare chromosome disorder, many babies having symptoms from birth or early childhood. The rest ...
https://frankieslegacy.wordpress.com/rare-chromosome-disorders/
*  FDNA and The Focus Foundation Join Forces to Help Children with Sex Chromosome Disorders Using Facia... ( ...
(PRWEB) May 10 2017 Millions of people worldwide are living with X and Y Chromosomal Disorders often called Sex Chromosome Disorders and don't even know it. These d,FDNA,and,The,Focus,Foundation,Join,Forces,to,Help,Children,with,Sex,Chromosome,Disorders,Using,Facial,Analysis,biological,advanced biology technology,biology laboratory technology,biology device technology,latest biology technology
http://www.bio-medicine.org/biology-technology-1/FDNA-and-The-Focus-Foundation-Join-Forces-to-Help-Children-with-Sex-Chromosome-Disorders-Using-Facial-Analysis-38318-1/
*  Chromosone Disorders - Unrevealed Facts ( Chromosome disorders in sex cells cause...)
Health,Chromosome disorders in sex cells cause infertility miscarriage and i...A new study from Karolinska Institutet published in the scientific ...Sex cells contain a control station for monitoring the mechanism...Scientists have now shown that there is an alternative distribut...We believe that this new fundamental mechanism can help to ex...,Chromosone,Disorders,-,Unrevealed,Facts,medicine,medical news today,latest medical news,medical newsletters,current medical news,latest medicine news
http://www.bio-medicine.org/medicine-news/Chromosone-Disorders---Unrevealed-Facts-23627-1/
*  Hudson Reporter - About Zoemy… Local 2 year old has rare chromosome disorder plus four others
About Zoemy… Local 2-year-old has rare chromosome disorder plus four others - Noemi Alicea a Hoboken native is caring for two special needs children. Her son Richard 3 was diagnosed with autism when he was a little over a year. Her 2-year-old Zoem...
http://hudsonreporter.com/pages/full_story/push?article-About+Zoemy%E2%80%A6-Local+2-year-old+has+rare+chromosome+disorder-+plus+four+others-%20&id=21591759
*  Hudson Reporter - About Zoemy… Local 2 year old has rare chromosome disorder plus four others
About Zoemy… Local 2-year-old has rare chromosome disorder plus four others - Noemi Alicea a Hoboken native is caring for two special needs children. Her son Richard 3 was diagnosed with autism when he was a little over a year. Her 2-year-old Zoem...
http://www.hudsonreporter.com/view/full_story/20929438/article-About-Zoemy%E2%80%A6-Local-2-year-old-has-rare-chromosome-disorder--plus-four-others-?instance=home_Most_popular
*  Hudson Reporter - About Zoemy… Local 2 year old has rare chromosome disorder plus four others
About Zoemy… Local 2-year-old has rare chromosome disorder plus four others - Noemi Alicea a Hoboken native is caring for two special needs children. Her son Richard 3 was diagnosed with autism when he was a little over a year. Her 2-year-old Zoem...
http://www.hudsonreporter.com/view/full_story/21591759/article-About-Zoemy%E2%80%A6-Local-2-year-old-has-rare-chromosome-disorder--plus-four-others-
*  What are the most common sex chromosome disorders? - Answered by top doctors on HealthTap
Most common is klinefelter's syndrome 47 XXY (male) next most common is turner syndrome 45 xo (female), following are all much less common:- triple x 47 xxx, hermaprodite 46 xx/xy mixed gonadal dysgenesis, 47 xyy & 48 xxyy syndromes ...
https://www.healthtap.com/user_questions/163513-what-are-the-most-common-sex-chromosome-disorders
*  Neurocognitive outcomes of individuals with a sex chromosome trisomy: XXX, XYY, or XXY: a systematic review - LEGGETT - 2010 -...
Aim To review systematically the neurodevelopmental characteristics of individuals with sex chromosome trisomies (SCTs).. Method A bibliographic search identified English-language articles on SCTs. The focus was on studies unbiased by clinical referral, with power of at least 0.69 to detect an effect size of 1.0.. Results We identified 35 articles on five neonatally identified samples that had adequate power for our review. An additional 11 studies were included where cases had been identified for reasons other than neurodevelopmental concerns. Individuals with an additional X chromosome had mean IQs that were within broadly normal limits but lower than the respective comparison groups, with verbal IQ most affected. Cognitive outcomes were poorest for females with XXX. Males with XYY had normal-range IQs, but all three SCT groups (XXX, XXY, and XYY) had marked difficulties in speech and language, motor skills, and educational achievement. Nevertheless, most adults with SCTs ...
http://onlinelibrary.wiley.com/doi/10.1111/j.1469-8749.2009.03545.x/abstract
*  Chromosome Disorders | Harrison's Principles of Internal Medicine, 19e | AccessMedicine | McGraw-Hill Medical
Since these early discoveries, the techniques for analysis of human chromosomes, and DNA in general, have gone through several revolutions, and with each technical advancement, our understanding of the role of chromosomal abnormalities in human disease has expanded. While early studies in the 1950s and 1960s easily identified abnormalities of chromosome number (aneuploidy) and large structural alterations such as deletions (chromosomes with missing regions), duplications (extra copies of chromosome regions), or translocations (where portions of the chromosomes are rearranged), many other types of structural alterations could only be identified as techniques improved. The first important technical advance was the introduction of chromosome banding in the late 1960s, a technique that allowed for the staining of the chromosomes, so that each chromosome could be recognized by ...
http://accessmedicine.mhmedical.com/content.aspx?bookid=1130§ionid=66487725
*  y chromosome disorders - Biology-Online
have scientests found any disorders that are linked to the y chromosome? If they have could you tell me where I can get more info on it, 'cause last I heard they havn't ...
https://www.biology-online.org/biology-forum/viewtopic.php?t=1884
*  Evie-Anne's Aventure's - Welcome
Monosomy 1p36 Deletion Syndrome 1p36 deletion syndrome is a chromosome disorder. A chromosome disorder is a change in chromosome number or structure which results in a set of features or symptoms. People with 1p36 deletion syndrome have lost a small but variable amount of genetic material from one of their 46 chromosomes. 1p36 deletion syndrome was described for the first time in the late 1990s, although the first case of a child with a deletion of 1p36 was published in 1981. Most reports suggest that 1p36 deletions affect girls more often than boys - around 65 per cent of reported cases are girls. Unique families support this: 73 per cent of the children with 1p36 deletion syndrome are girls. The reasons for this are, as yet, not known.
http://www.evie-annes-adventures.com
*  Chromosome Disorders | Rainbowkids Adoption & Child Welfare Advocacy
A teratoma is a congenital (present at birth) tumor. This tumor contains three layers of tissue and can contain teeth, hair, eyes, and/or bones. Because of these common findings and the fact that teratomas form in the em... Read more about Teratoma. ...
https://www.rainbowkids.com/special-needs/chromosome-disorders/
*  Growth Hormone Therapy is Approved: for Patients with Chromosome Disorders
Periods can be fairly easy, passing some tissue at a time, or off can come the whole lining in one piece called a decidual cast. Generally the lining of the uterus is only 6-8 mm thick at the time of the menstrual period, and it is shed gradually, a few cells at a time. The decidual cast is when the entire lining passes spontaneously. It's not uncommon, but it usually both uncomfortable, and alarming to some. But us women are designed to have some sort of periods Or Not? We have to pass tissue each month. Or Not? Are they good for us? Or Not? Do we want them? Or Not? Is this something that is individual? Or Not? It's a complex topic that I will be discussing a lot over my time in this blog. So lets start with basics: How much do we bleed and what are we loosing, and just what was this that the patient passed? And another basic: track your periods, and the Women's Health Practice site http://www.womenshealthpractice.com/media/pdf/menstrual_chart.pdf you can find one. Wom ...
http://www.gynogab.com/2010/05/growth-hormone-therapy-is-approved-for.html
*  Category:Sex chromosome aneuploidies | Psychology Wiki | FANDOM powered by Wikia
Wikia is not accessible if you've made further modifications. Remove the custom ad blocker rule(s) and the page will load as expected ...
http://psychology.wikia.com/wiki/Category:Sex_chromosome_aneuploidies
*  Birkbeck Institutional Research Online
Book synopsis: This special issue is among the first volumes to examine the topic of early development in children with neurogenetic disorders associated with intellectual disability. It includes discussions of theoretical issues regarding the emergence of behavioural profiles during early development, as well as comprehensive accounts of early development in specific disorders such as Down syndrome, fragile X syndrome, Williams syndrome, and sex chromosome disorders. In addition, several contributions examine the latest clinical applications of this work for diagnosis, treatment, and education.. ...
http://eprints.bbk.ac.uk/12657/
*  P79 Clinical case of rare chromosome pathology: combined deletion 7p21.1-p15.2 and deletion 22q12.1 in patient with mental...
Conclusions It is known that the patients with deletions in 7 p21-p14.3 chromosome region have mental retardation and facial features similar to Greig syndrome and patients with 22q12 deletions have mental retardation, hearing loss and heart disease. All of these clinical features were present in phenotype of our patient. The results of our molecular cytogenetic research allow to reveal the combination of two microdeletions which fully explain the existing phenotype of patient. The Affymetrix microarray solutions is a powerful flexible method for detection of rare chromosomal aberrations which can help to paediatricians and clinical geneticists explain and describe new phenotype in patients with rare chromosome disorders. ...
http://adc.bmj.com/content/102/Suppl_2/A64.2
*  Chromosome 2p Duplication
2p duplications fall into a category of chromosome disorders in which a segment of chromosome 2 is duplicated or copied. This means instead of two copies of the genes in this segment, each cell of the body now has three copies. These extra copies of genetic information may cause multiple birth defects and developmental issues. Duplications generally arise by random chance (de novo), but also can be the result of inheriting a chromosome error from the parents.. Individuals with 2p duplications generally have a similar appearance of a prominent forehead, a triangular shaped mouth, wide spaced eyes, slanted back ears, and a thin upper lip. This appearance, in addition to slow body growth and feeding difficulties, typically alerts the parents that someone might be wrong. The condition is officially diagnosed with a genetic test that allows the specialist to see that a specific portion of the chromosome is duplicated.. Symptoms ...
http://diseaseinfosearch.org/Chromosome+2+Duplication/1504
*  Chromosome 2p Duplication
2p duplications fall into a category of chromosome disorders in which a segment of chromosome 2 is duplicated or copied. This means instead of two copies of the genes in this segment, each cell of the body now has three copies. These extra copies of genetic information may cause multiple birth defects and developmental issues. Duplications generally arise by random chance (de novo), but also can be the result of inheriting a chromosome error from the parents.. Individuals with 2p duplications generally have a similar appearance of a prominent forehead, a triangular shaped mouth, wide spaced eyes, slanted back ears, and a thin upper lip. This appearance, in addition to slow body growth and feeding difficulties, typically alerts the parents that someone might be wrong. The condition is officially diagnosed with a genetic test that allows the specialist to see that a specific portion of the chromosome is duplicated.. Symptoms ...
http://diseaseinfosearch.org/Chromosome+Two+Duplication+Syndrome/1504
*  A Drake's Progress: Language
The condition is a chromosome disorder which affects the part of the brain which controls appetite, growth, and sexual development. Although too weak to feed as a baby, children with PWS grow to have an insatiable appetite, and never physically feel full up. But because their bodies can't convert fat to muscle efficiently, they have to be on a strict diet, for life. If their food intake isn't controlled, they will suffer from life-threatening obesity. People with PWS are of small stature, have some form of learning disability, are unable to have children, and are unlikely ever to be able to live an independent life. Oh, and by the way, there's no cure.. ...
http://adrakesprogress.blogspot.com/2011/09/language.html
*  Sweet Miss Mollie: The difficult journey
Mollie did splendidly well at first. She was even taken out of the ICU for a couple of days. Everything seemed to be fine. We met with the doctors the day I was released and talked about her further treatment. They told us in the beginning that she would not live more than 24 hours without the embolization but now they felt we could hold off for awhile. We concentrated on getting her to grow and learning about the chromosome disorder. We met with the geneticist and were told that it wasn't normally a hereditary thing but they wanted to check our DNA to see if there was anything that could tell them why she had the deletion. She was missing a small part on one of her 13th chromosomes. Our genetic tests came back normal so they believed it was a spontaneous event. ...
http://molliechristina.blogspot.com/2011/03/difficult-journey.html
*  A Drake's Progress: High
The condition is a chromosome disorder which affects the part of the brain which controls appetite, growth, and sexual development. Although too weak to feed as a baby, children with PWS grow to have an insatiable appetite, and never physically feel full up. But because their bodies can't convert fat to muscle efficiently, they have to be on a strict diet, for life. If their food intake isn't controlled, they will suffer from life-threatening obesity. People with PWS are of small stature, have some form of learning disability, are unable to have children, and are unlikely ever to be able to live an independent life. Oh, and by the way, there's no cure.. ...
http://adrakesprogress.blogspot.com/2011/06/high.html
*  A Drake's Progress: Guardian
The condition is a chromosome disorder which affects the part of the brain which controls appetite, growth, and sexual development. Although too weak to feed as a baby, children with PWS grow to have an insatiable appetite, and never physically feel full up. But because their bodies can't convert fat to muscle efficiently, they have to be on a strict diet, for life. If their food intake isn't controlled, they will suffer from life-threatening obesity. People with PWS are of small stature, have some form of learning disability, are unable to have children, and are unlikely ever to be able to live an independent life. Oh, and by the way, there's no cure.. ...
http://adrakesprogress.blogspot.com/2011/07/guardian.html
*  A Drake's Progress: Secret
The condition is a chromosome disorder which affects the part of the brain which controls appetite, growth, and sexual development. Although too weak to feed as a baby, children with PWS grow to have an insatiable appetite, and never physically feel full up. But because their bodies can't convert fat to muscle efficiently, they have to be on a strict diet, for life. If their food intake isn't controlled, they will suffer from life-threatening obesity. People with PWS are of small stature, have some form of learning disability, are unable to have children, and are unlikely ever to be able to live an independent life. Oh, and by the way, there's no cure.. ...
http://adrakesprogress.blogspot.com/2012/01/secret.html
*  A Drake's Progress: Winners
The condition is a chromosome disorder which affects the part of the brain which controls appetite, growth, and sexual development. Although too weak to feed as a baby, children with PWS grow to have an insatiable appetite, and never physically feel full up. But because their bodies can't convert fat to muscle efficiently, they have to be on a strict diet, for life. If their food intake isn't controlled, they will suffer from life-threatening obesity. People with PWS are of small stature, have some form of learning disability, are unable to have children, and are unlikely ever to be able to live an independent life. Oh, and by the way, there's no cure.. ...
http://adrakesprogress.blogspot.com/2012/06/winners.html
*  A Drake's Progress: Revelation
The condition is a chromosome disorder which affects the part of the brain which controls appetite, growth, and sexual development. Although too weak to feed as a baby, children with PWS grow to have an insatiable appetite, and never physically feel full up. But because their bodies can't convert fat to muscle efficiently, they have to be on a strict diet, for life. If their food intake isn't controlled, they will suffer from life-threatening obesity. People with PWS are of small stature, have some form of learning disability, are unable to have children, and are unlikely ever to be able to live an independent life. Oh, and by the way, there's no cure.. ...
http://adrakesprogress.blogspot.com/2012/12/revelation.html