Supported by NICHD PPG 33113 Posters and Titles
... typical WS socio-cognitive phenotype is characterized by increased affiliative drive and attention to faces, relative strengths in face recognition and language processing, and relative deficits in spatial processing. People with WS are often described as “hypersocial”, empathetic, and show increase ...
... typical WS socio-cognitive phenotype is characterized by increased affiliative drive and attention to faces, relative strengths in face recognition and language processing, and relative deficits in spatial processing. People with WS are often described as “hypersocial”, empathetic, and show increase ...
Chorionic Villus Sampling CVS M40
... What is it? Chorionic Villus Sampling (CVS) is the taking of small pieces of placental tissue (a biopsy). The placenta contains the same genetic information as your baby, so a CVS enables us to check the chromosomes (the structures which hold all the baby’s genes). This means we can take tiny pieces ...
... What is it? Chorionic Villus Sampling (CVS) is the taking of small pieces of placental tissue (a biopsy). The placenta contains the same genetic information as your baby, so a CVS enables us to check the chromosomes (the structures which hold all the baby’s genes). This means we can take tiny pieces ...
Advanced ECG Interpretation
... in people from Asia. The reason for this observation is not yet fully understood but may be due to an Asian-specific sequence in the promoter region of SCN5A (Bezzina, 2005). In Asia (eg, the Philippines, Thailand, Japan), Brugada syndrome seems to be the most common cause of natural death in men yo ...
... in people from Asia. The reason for this observation is not yet fully understood but may be due to an Asian-specific sequence in the promoter region of SCN5A (Bezzina, 2005). In Asia (eg, the Philippines, Thailand, Japan), Brugada syndrome seems to be the most common cause of natural death in men yo ...
T The broken heart syndrome
... and almost unheard of condition in Western medical literature at the time of Pavin’s publication. In the Japanese literature, however, reversible LV dysfunction precipitated by acute emotional or physical stress had already been well described. In 1990, Satoh et al were the first to refer to this sy ...
... and almost unheard of condition in Western medical literature at the time of Pavin’s publication. In the Japanese literature, however, reversible LV dysfunction precipitated by acute emotional or physical stress had already been well described. In 1990, Satoh et al were the first to refer to this sy ...
Types of chromosome abnormalities
... translocation of chromosomes 13 and 14. Karyotype shows that one normal 13 and one normal 14 are missing and replaced with a derivative chromosome 46,XY,t(11;22)(q23;q22): A male with a balanced reciprocal translocation between chromosome 11 and 22. The breakpoints are at 11q23 and 22q22 46,XX,inv(3 ...
... translocation of chromosomes 13 and 14. Karyotype shows that one normal 13 and one normal 14 are missing and replaced with a derivative chromosome 46,XY,t(11;22)(q23;q22): A male with a balanced reciprocal translocation between chromosome 11 and 22. The breakpoints are at 11q23 and 22q22 46,XX,inv(3 ...
Recessive mutations in PTHR1 cause contrasting skeletal
... PLC/PKC activity in vitro (12), leading to similar overall consequences as the DSEL variant (13). We therefore propose that the expected unbalanced AC/PKA versus PLC/PKC activity caused by the Eiken mutation is responsible for a phenotype similar to the DSEL mouse. Alternatively, or in addition, par ...
... PLC/PKC activity in vitro (12), leading to similar overall consequences as the DSEL variant (13). We therefore propose that the expected unbalanced AC/PKA versus PLC/PKC activity caused by the Eiken mutation is responsible for a phenotype similar to the DSEL mouse. Alternatively, or in addition, par ...
Editorial Personal reflections on the Sticky Platelet
... the aim of our work is not just a statistical analysis of SPS occurrence, but especially revealing its causes. It has been supposed that glycoprotein receptors on the platelet surface membrane may be involved, its abnormality leading into platelet hyperfunction. Up to now, no molecular substrate to ...
... the aim of our work is not just a statistical analysis of SPS occurrence, but especially revealing its causes. It has been supposed that glycoprotein receptors on the platelet surface membrane may be involved, its abnormality leading into platelet hyperfunction. Up to now, no molecular substrate to ...
Medical Genetics: Case #4
... American College of Medical Genetics guidelines: Testing any person with unexplained mental retardation, developmental delay, or autism, especially if physical or behavioral characteristics commonly associated with the fragile X syndrome are evident. Test for Fragile X in people with unexplained MR, ...
... American College of Medical Genetics guidelines: Testing any person with unexplained mental retardation, developmental delay, or autism, especially if physical or behavioral characteristics commonly associated with the fragile X syndrome are evident. Test for Fragile X in people with unexplained MR, ...
Complex Chromosome Rearrangement of 6p25.3-.p23
... developmental delay as in our patient but also typically involves moderate to severe ocular, cardiac and renal disease, and psychomotor delay.22,26,27 The relative sparing of stigmata in our patient with only mild developmental delay and hearing loss despite the large chromosome rearrangement is lik ...
... developmental delay as in our patient but also typically involves moderate to severe ocular, cardiac and renal disease, and psychomotor delay.22,26,27 The relative sparing of stigmata in our patient with only mild developmental delay and hearing loss despite the large chromosome rearrangement is lik ...
Metabolic syndrome and central retinal artery occlusion
... choroid is still visible in this area (9). It is not known how ...
... choroid is still visible in this area (9). It is not known how ...
Mal de Debarquement Syndrome
... The cause of MdDS is not well understood. Many people experience transient symptoms after passive travel, especially after a long and rough sea voyage (Gordon et al. 1992). Getting “one’s land legs” generally lasts no more than a day or two but beyond this span MdDS is said to be present, although p ...
... The cause of MdDS is not well understood. Many people experience transient symptoms after passive travel, especially after a long and rough sea voyage (Gordon et al. 1992). Getting “one’s land legs” generally lasts no more than a day or two but beyond this span MdDS is said to be present, although p ...
Phocomelia Syndrome - A Case Report
... making them unable to move to the equatorial plane of spindle in metaphase of cell division. As a result, the cell becomes incapable of division or slow in process, because of this the newly made cells contain an excessive or reduced amount of chromatin. In phocomelia, the cells ceased to develop or ...
... making them unable to move to the equatorial plane of spindle in metaphase of cell division. As a result, the cell becomes incapable of division or slow in process, because of this the newly made cells contain an excessive or reduced amount of chromatin. In phocomelia, the cells ceased to develop or ...
Pedigree Problems 1. Marfa
... Name: _______________________________________________ Period:__________Date: ________________________ Pedigree Problems 1. Marfan syndrome is an inherited condition that affects the connective tissue, resulting in unusually long bones and spinal curvature, as well as vision, cardiac, and respiratory ...
... Name: _______________________________________________ Period:__________Date: ________________________ Pedigree Problems 1. Marfan syndrome is an inherited condition that affects the connective tissue, resulting in unusually long bones and spinal curvature, as well as vision, cardiac, and respiratory ...
A boy with conduct disorder (CD), attention deficit hyperactivity
... 47,XYY syndrome is such a chromosomal abnormality known to occur in 1 out of 1000 male births [3]. The etiology of the additional Y chromosome is a paternal nondisjunction at meiosis II. In some cases, the failure occurs in the cell division of the postzygotic mitosis in early embryonic development ...
... 47,XYY syndrome is such a chromosomal abnormality known to occur in 1 out of 1000 male births [3]. The etiology of the additional Y chromosome is a paternal nondisjunction at meiosis II. In some cases, the failure occurs in the cell division of the postzygotic mitosis in early embryonic development ...
Date Monday 5/5 Tuesday 5/6 Wednesday 5/7 Thursday 5/8 Friday
... About 1 in 150 babies is born with a chromosomal abnormality. These abnormalities are caused by errors in the number or structure of chromosomes. There are many different chromosomal abnormalities. Many children with a chromosomal abnormality have mental and/or physical birth defects. Understanding ...
... About 1 in 150 babies is born with a chromosomal abnormality. These abnormalities are caused by errors in the number or structure of chromosomes. There are many different chromosomal abnormalities. Many children with a chromosomal abnormality have mental and/or physical birth defects. Understanding ...
Homozygosity in piebald trait
... condition is inherited intermediately rather than as a true dominant. The same may well hold true for most other disorders in man classified as dominant but this may escape detection when the homozygote trait is lethal. This family also illustrates the notion that consanguinity in itself is not nece ...
... condition is inherited intermediately rather than as a true dominant. The same may well hold true for most other disorders in man classified as dominant but this may escape detection when the homozygote trait is lethal. This family also illustrates the notion that consanguinity in itself is not nece ...
Homozygosity in piebald trait
... condition is inherited intermediately rather than as a true dominant. The same may well hold true for most other disorders in man classified as dominant but this may escape detection when the homozygote trait is lethal. This family also illustrates the notion that consanguinity in itself is not nece ...
... condition is inherited intermediately rather than as a true dominant. The same may well hold true for most other disorders in man classified as dominant but this may escape detection when the homozygote trait is lethal. This family also illustrates the notion that consanguinity in itself is not nece ...
Syndromes of the first and second pharyngeal arches
... and other malformations of the ears, and conductive hearing loss due to atresia of the external ear canal. Cleft palate and absence of the zygomatic arch may occur in severe cases. Birth prevalence has been estimated as 1:50,000 newborns and approximately 60% are caused by new mutations. Penetrance ...
... and other malformations of the ears, and conductive hearing loss due to atresia of the external ear canal. Cleft palate and absence of the zygomatic arch may occur in severe cases. Birth prevalence has been estimated as 1:50,000 newborns and approximately 60% are caused by new mutations. Penetrance ...
Chapter 4
... • Nondisjunction is the failure of a chromosome to divide during meiosis. It results in three chromosomes going to one daughter cell and only one chromosome going to the other daughter cell. • Translocation is an exchange of materials between two chromosomes or the fusion of a portion of one chromos ...
... • Nondisjunction is the failure of a chromosome to divide during meiosis. It results in three chromosomes going to one daughter cell and only one chromosome going to the other daughter cell. • Translocation is an exchange of materials between two chromosomes or the fusion of a portion of one chromos ...
A very rare cohort of elderly patients with autoimmune polyglandular
... associated with autoimmune diseases in the elderly. Twenty-eight patients are diagnosed pernicious anemia associated with other autoimmune diseases. The mean age is 76.6 years; the female-to-male ratio is 3:1. We noted two cases where pernicious anemia is associated with adrenal insufficiency, autoi ...
... associated with autoimmune diseases in the elderly. Twenty-eight patients are diagnosed pernicious anemia associated with other autoimmune diseases. The mean age is 76.6 years; the female-to-male ratio is 3:1. We noted two cases where pernicious anemia is associated with adrenal insufficiency, autoi ...
Prader-Willi syndrome - type 1 deletion, a
... proximal region of the long arm of chromosome 15 (15q) is rich in duplicons and thus vulnerable to genomic instability [4]. This region further houses six genomic breakpoint (BP) regions, assigned as BP1 to BP6, from the centromeric to telomeric region [5]. Each break point is surrounded by a comple ...
... proximal region of the long arm of chromosome 15 (15q) is rich in duplicons and thus vulnerable to genomic instability [4]. This region further houses six genomic breakpoint (BP) regions, assigned as BP1 to BP6, from the centromeric to telomeric region [5]. Each break point is surrounded by a comple ...
Post-Cardiac Injury Syndrome after Permanent Pacemaker
... Address correspondence and reprint requests to: Dr. Wei-Shiang Lin, Division of Cardiology, Department of Internal Medicine, Tri-Service ...
... Address correspondence and reprint requests to: Dr. Wei-Shiang Lin, Division of Cardiology, Department of Internal Medicine, Tri-Service ...
Questions - nslc.wustl.edu
... In general, individuals with Down's syndrome are trisomic for a small acrocentric chromosome that is designated chromosome 21. Such trisomic individuals have 47 chromosomes rather than the normal 46. Down's syndrome patients that have 46 chromosomes are occasionally found, however. Almost always in ...
... In general, individuals with Down's syndrome are trisomic for a small acrocentric chromosome that is designated chromosome 21. Such trisomic individuals have 47 chromosomes rather than the normal 46. Down's syndrome patients that have 46 chromosomes are occasionally found, however. Almost always in ...
efficacy of levetiracetam in a case of stiff-person syndrome
... In spite of being almost impossible to forget its classical clinical features, SPS is a rare entity and it can be underdiagnosed by other medical areas. An important diagnostic criterion is the presence of continuous motor unit activity on electromyography despite attempted relaxation.(2) Continuous ...
... In spite of being almost impossible to forget its classical clinical features, SPS is a rare entity and it can be underdiagnosed by other medical areas. An important diagnostic criterion is the presence of continuous motor unit activity on electromyography despite attempted relaxation.(2) Continuous ...
Down syndrome
Down syndrome (DS or DNS) 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 typically associated with physical growth delays, characteristic facial features, and mild to moderate intellectual disability. The average IQ of a young adult with Down syndrome is 50, equivalent to the mental age of an 8- or 9-year-old child, but this varies widely.Down syndrome can be identified during pregnancy by prenatal screening followed by diagnostic testing, or after birth by direct observation and genetic testing. Since the introduction of screening, pregnancies with the diagnosis are often terminated. Regular screening for health problems common in Down syndrome is recommended throughout the person's life.Education and proper care have been shown to improve quality of life. Some children with Down syndrome are educated in typical school classes, while others require more specialized education. Some individuals with Down syndrome graduate from high school and a few attend post-secondary education. In adulthood, about 20% in the United States do paid work in some capacity with many requiring a sheltered work environment. Support in financial and legal matters is often needed. Life expectancy is around 50 to 60 years in the developed world with proper health care.Down syndrome is one of the most common chromosome abnormalities in humans, occurring in about one per 1000 babies born each year. In 2013 it resulted in 36,000 deaths down from 43,000 deaths in 1990. It is named after John Langdon Down, the British doctor who fully described the syndrome in 1866. Some aspects of the condition were described earlier by Jean-Étienne Dominique Esquirol in 1838 and Édouard Séguin in 1844. The genetic cause of Down syndrome—an extra copy of chromosome 21—was identified by French researchers in 1959.