Chromosomal Disorders

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Marsha Sniezek
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Microcephaly: a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than average. Microcephaly may be congenital or it may develop in the first few years of life. The disorder may stem from a wide variety of conditions that cause abnormal growth of the brain, or from syndromes associated with chromosomal abnormalities. Two copies of a loss-of-function mutation in one of the microcephalin genes causes primary microcephaly. Chromosomal Disorders, Conjoined Twins, Human Oddities, Critical Care, Nurse Stuff, Medical Science, Medical Information, Strange Things, Nicu

MICROCEPHALY

It refers to the condition which a child’s head is much smaller than normal for his age and gender. CAUSES:  Common Causes Primary ...

Klinefelter syndrome XXY) v Turner syndrome X) (Normal XY ie 44 pairs) autosomes and 2 sex chromosomes) Nursing Notes, Nursing Tips, Chromosomal Disorders, Turner Syndrome, Nursing Mnemonics, Gene Therapy, Nursing Career, Nclex, Maternity Nursing

Klinefelter Syndrom = XXY (extra X chromosome in males.) Turner's Syndrome = X (only one X chromosome in females.) I have Turner's. I am really short and can't have children.

Williams syndrome is a rare neurodevelopmental disorder characterized by a… Maisie Williams, Chromosomal Disorders, Aortic Stenosis, Williams Syndrome, Developmental Delays, Medical Mnemonics, Rare Disease, Power Metal, Medical Information

Williams syndrome is a rare neurodevelopmental disorder characterized by a distinctive, "elfin" facial appearance, along with a low nasal bridge, an unusually cheerful demeanor and ease with strangers; developmental delay coupled with strong language skills; and cardiovascular problems, such as supravalvular aortic stenosis and transient hypercalcemia. It is caused by a deletion of about 26 genes from the long arm of chromosome 7. It has an estimated prevalence of 1 in 7500 to 1 in 20,000…

 This group has been invaluable for our family! Made our daughter's chromosomal anomaly less frightening to us. A definate for families affected by rare chromosome disorders. Chd Awareness, Create Awareness, Chromosome 6, Edwards Syndrome, Expressive Language Disorder, Chromosomal Disorders, Auditory Processing Disorder, Adopted Children, Rare Disorders

Unique The Rare Chromosome Disorder Support Group

Unique - Rare Chromosome Disorder Group. This group has been invaluable for our family! Made our daughter's chromosomal anomaly less frightening to us. A definate for families affected by rare chromosome disorders.

Williams syndrome is a rare genetic disorder that affects a child's growth, physical appearance, and cognitive development. People who have Williams syndrome are missing genetic material from chromosome 7, including the gene elastin. This gene's protein product gives blood vessels the stretchiness and strength required to withstand a lifetime of use. The elastin protein is made only during embryonic development and childhood, when blood vessels are formed. Because they lack the elastin… Chromosomal Disorders, Williams Syndrome, Embryonic Development, Rare Genetic Disorders, Nasty People, Congenital Heart Defect, Medical Research, Spectrum Disorder, Blood Vessels

Williams syndrome is a rare genetic disorder that affects a child's growth, physical appearance, and cognitive development. People who have Williams syndrome are missing genetic material from chromosome 7, including the gene elastin. This gene's protein product gives blood vessels the stretchiness and strength required to withstand a lifetime of use. The elastin protein is made only during embryonic development and childhood, when blood vessels are formed. Because they lack the elastin…

Great explanation of many genetic disorders In Situ Hybridization, Chromosomal Disorders, Learning Theory, Muscle Tone, Biochemistry, Occupational Therapy, Child Development, Genetics, Kid Stuff

Prader-Willi syndrome: Caused by a deletion of seven genes on chromosome 15. Some characteristic of PWS include low muscle tone, short stature, incomplete sexual development, cognitive disabilities, problem behaviors, and a chronic feeling of hunger that can lead to excessive eating and life-threatening obesity. This photo demonstrates the use of the FISH method in identifying the missing genes on chromosome 15.

Chromosome Disorder Outreach Inc a nonprofit organization supporting rare chromosome and single gene mutation disorders for over 28 years. Chromosomal Disorders, Special Needs Resources, Special Kids, Rare Disease, Aspergers, Genetics, Helpful Tips, Biology, Truths

Chromosome Disorder Outreach Inc | chromosome disorder info & support

Chromosome Disorder Outreach Inc a nonprofit organization supporting rare chromosome and single gene mutation disorders for over 28 years. Join us.

This video has been made in support of all children and young people affected by a rarer chromosome disorder and Unique, the chromosome disorder network base. Chd Awareness, Create Awareness, Chromosomal Disorders, Genetic Disorder, Congenital Heart Defect, Rare Disease, Down Syndrome, Aspergers, Young People

Unique children with rare chromosome disorders

This video has been made in support of all children and young people affected by a rarer chromosome disorder and Unique, the chromosome disorder network base...

Noah has Kleefstra Syndrome. A deletion on his chromosome ( deletion)… – Hidradenitis Suppurativa Treatment Global Developmental Delay, Developmental Delays, Chromosomal Disorders, Ventricular Septal Defect, Rare Genetic Disorders, Ear Infection, Epilepsy, Special Needs, Genetics

Noah has Kleefstra Syndrome. A deletion on his 9th chromosome ( 9q34.3 deletion) It is a VERY rare genetic disorder & only 200 people in the world have it. Noah was diagnosed when he was just a week old. He is now 3 years old. He is non-verbal & non-mobile (uses a wheelchair). He also has global developmental delay, Ventricular septal defect, chronic constipation, Epilepsy, Chronic ear infections, Kidney reflex

6 Artistic Cool Tricks: Cholesterol Lowering Foods News cholesterol young living heart disease.Cholesterol Lowering Foods Grocery Lists cholesterol values blood pressure. Foods To Reduce Cholesterol, What Is Cholesterol, Healthy Cholesterol Levels, Cholesterol Symptoms, Hdl Cholesterol, Chromosomal Disorders, Essential Oils For Skin, Cleanse Diet

Most common cause of familial hypercholesterolemia is called the same (IIa). Shows a bigger beta band on EP. Although eruptive xanthomas are a/w high TG, these xanthelesma are a/w high cholesterol (LDL). This disorder is due to an autosomal dominant deficiency in the LDL receptor (Chromosome 19, can't bind to Apo B100 on LDL).

Scientists say they have found a way to "awaken" the paternal allele of which could lead to a potential treatment strategy for Angelman syndrome -- a neurogenetic disorder often misdiagnosed as cerebral palsy or autism. Chromosomal Disorders, Types Of Science, Angelman Syndrome, Science Images, Neurons, Nature Paintings, Study, Pediatrics, Discovery

Study could lead to a treatment for Angelman syndrome

Scientists say they have found a way to "awaken" the paternal allele of Ube3a, which could lead to a potential treatment strategy for Angelman syndrome -- a neurogenetic disorder often misdiagnosed as cerebral palsy or autism.

Amniocentesis or Amniotic Fluid Test (AFT) is a prenatal test that detects any genetic, chromosomal or sexual abnormalities in the baby. Low Platelets, Amniotic Fluid, All About Pregnancy, Down Syndrome, Gestational Diabetes, Dna Test, Medical Care, Science

What is Amniocentesis?

Amniocentesis or Amniotic Fluid Test (AFT) is a prenatal test that detects any genetic, chromosomal or sexual abnormalities in the baby. Read what is

UC Davis researchers have found that for children with the genetic disorder known as chromosome 22q11.2 deletion syndrome anxiety ― but not intelligence ― is linked to poorer adaptive behaviors, including self-care and communication skills, that affect daily life. Digeorge Syndrome, Chromosomal Disorders, Genetic Disorder, Communication Skills, Genetics, Science And Technology, Autism, Anxiety, Lily

UC Davis researchers have found that for children with the genetic disorder known as chromosome 22q11.2 deletion syndrome anxiety ― but not intelligence ― is linked to poorer adaptive behaviors, including self-care and communication skills, that affect daily life.

 Beverly Searle was a participant in the European Conference on Rare Diseases (ECRD) Krakow, Poland She is CEO of Unique a Rare Chromosome Disor. Chromosomal Disorders, Dysgraphia, Rare Disease, Special Needs, Bipolar, Caregiver, Asd, Parenting Advice, Genetics

Dr. Beverly Searle - Unique (Rare Chromosome Disorder Support Group)

Dr. Beverly Searle was a participant in the 5th European Conference on Rare Diseases (ECRD) Krakow, Poland 2010. She is CEO of Unique a Rare Chromosome Disor...

PJ from the Go Fit Gals reveals the 6 best leg exercises, for your abs! These exercises will not only torch the muscles of the thighs, but also those around your midsection. Wednesday Workout, After Workout, Go Fit, Stay Fit, Hiit Workout Videos, Workouts, Chromosomal Disorders, How To Get Thin, Turner Syndrome

What Is Turner Syndrome? What Causes Turner Syndrome? Turner syndrome, also known as Turners syndrome, Ullrich-Turner syndrome or Gonadal dysgenesis, is a chromosomal disorder that affects only females. It is characterized by the absence of part or all of a second sex chromosome in some or all cells. Approximately 1 in every 2,500 to 3,000 girls is born with the condition.

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