Down+Sydrome-+Momtahina+A.

Down syndrome Description: Is the most familiar of the genetic birth defects known as chromosomal abnormalities. It has relatively mild effects. Mostly characteristic features like some degree of developmental disability (mental retardation) – usually mild or moderate. Cause: Instead of the normal 23 pairs of chromosomes in the nucleus, there is an extra chromosome in the nucleus of the 21st chromosome.

Inheritance: Most of the cases are not inherited. There are three general cases of Down syndrome. The first and second type of Down syndrome happens due to the random accidents during mitosis (a special type of cell division where one cell becomes two cells which have the exact same number and type of chromosomes as the parent cell.) or meiosis (The second method of cell division occurs in the ovaries and testicles ("meiosis") and consists of one cell splitting into two, with the resulting cells having half the number of chromosomes of the parent cell.). The third type of Robertsonian Translocation. In this case, two breaks occur in separate chromosomes, usually the 14th and 21st chromosomes. There is rearrangement of the genetic material so that some of the 14th chromosome is replaced by extra 21st chromosome.

Symptoms: · Eyes- small, almond-shaped, and slanting · Nose- bridge of nose is small, giving the nose an awkward curve which causes the baby to sniffle · Mouth is too small, but tongue is the right side, - protrudes As the baby grows… · The hands are short and broad with short fingers that curve toward the thumb. · Gap between big toe and other toes is large · Square feet · 255 suffer heart defects · Suffer from hernia · Badly constipated · Broad, flat face, small head · <span style="color: black; font-family: Cambria,serif; font-size: 12pt;">Short neck, and limbs · <span style="color: black; font-family: Cambria,serif; font-size: 12pt;">Learning disabilities

<span style="color: black; font-family: Cambria,serif; font-size: 12pt; line-height: 14.25pt; margin-bottom: 0in;">Daily Life: <span style="color: black; font-family: Cambria,serif; font-size: 12pt; line-height: 14.25pt; margin-bottom: 0in;">They live a complicated daily life. · <span style="color: black; font-family: Cambria,serif; font-size: 12pt;">They have deficiencies in their diet · <span style="color: black; font-family: Cambria,serif; font-size: 12pt;">Less active, and have a greater chance of being obese · <span style="color: black; font-family: Cambria,serif; font-size: 12pt;">Heart and intestine defects that need surgery · <span style="color: black; font-family: Cambria,serif; font-size: 12pt;">Learning disabilities · <span style="color: black; font-family: Cambria,serif; font-size: 12pt;">Delayed mental and social development · <span style="color: black; font-family: Cambria,serif; font-size: 12pt;">Impulsive behavior · <span style="color: black; font-family: Cambria,serif; font-size: 12pt;">Short attention span · <span style="color: black; font-family: Cambria,serif; font-size: 12pt;">Poor judgment · <span style="color: black; font-family: Cambria,serif; font-size: 12pt;">They get frustrated easily in their daily life when they try to do something out of their ability, but can’t get it done. Or try to express something, and not being understood. · <span style="color: black; font-family: Cambria,serif; font-size: 12pt;">Regular ear infections

<span style="color: black; font-family: Cambria,serif; font-size: 12pt; line-height: 14.25pt; margin-bottom: 0in;">Diagnosis: <span style="color: black; font-family: Cambria,serif; font-size: 12pt; line-height: 14.25pt; margin-bottom: 0in;">Chromosomal abnormalities can be diagnosed before or after birth through examination <span style="color: black; font-family: Cambria,serif; font-size: 12pt; line-height: 14.25pt; margin-bottom: 0in;">Development disabilities evident by early childhood <span style="color: black; font-family: Cambria,serif; font-size: 12pt; line-height: 14.25pt; margin-bottom: 0in;">Birth of early years: see family physician <span style="color: black; font-family: Cambria,serif; font-size: 12pt; line-height: 14.25pt; margin-bottom: 0in;">Diagnostic tests – amniocentesis, chorionic villus and ultra sound are the three primary procedures

<span style="color: black; font-family: Cambria,serif; font-size: 12pt; line-height: 14.25pt; margin-bottom: 0in;">Treatment: · <span style="color: black; font-family: Cambria,serif; font-size: 12pt;">No specific treatment · <span style="color: black; font-family: Cambria,serif; font-size: 12pt;">Many defects need surgery to treat · <span style="color: black; font-family: Cambria,serif; font-size: 12pt;">Obesity is common, so exercise and low-calorie foods are necessary · <span style="color: black; font-family: Cambria,serif; font-size: 12pt;">Hips and neck should be examined before joining sports · <span style="color: black; font-family: Cambria,serif; font-size: 12pt;">Encouraging independence and behavioral training · <span style="color: black; font-family: Cambria,serif; font-size: 12pt;">Physical, speech, and occupational therapy can also can help movement, verbal and other everyday skills · <span style="color: black; font-family: Cambria,serif; font-size: 12pt;">Sign language and picture communications are used to help communicate with toddlers who have not yet learned to communicate

<span style="color: black; font-family: Cambria,serif; font-size: 12pt; line-height: 14.25pt; margin-bottom: 0in;">Research: · <span style="color: black; font-family: Cambria,serif; font-size: 12pt;">Research about the nutrition of people with this disease is common right now · <span style="color: black; font-family: Cambria,serif; font-size: 12pt;">Identifying the genes of chromosome 21. Scientists believe it will be possible to improve, correct, or prevent many of the problems associated with Down syndrome. · <span style="color: black; font-family: Cambria,serif; font-size: 12pt;">Exploring the neural circuits that are involved with learning and memory. · <span style="color: black; font-family: Cambria,serif; font-size: 12pt;">New Technology recently developed at Stanford array tomography and optogenetics to study the structure and function of neural circuits. · <span style="color: black; font-family: Cambria,serif; font-size: 12pt;">Dr. Craig Heller of Stanford U. is investigating and characterizing abnormalities in sleep structure and its related brain rhythms.

<span style="color: black; font-family: Cambria,serif; font-size: 12pt; line-height: 14.25pt; margin-bottom: 0in;">Additional Facts: · <span style="color: black; font-family: Cambria,serif; font-size: 12pt;">Occurs in 1 every 691 babies are born with DS   · <span style="color: black; font-family: Cambria,serif; font-size: 12pt;">Incidence increase with the age of the mother · <span style="color: black; font-family: Cambria,serif; font-size: 12pt;">Mortality rate increased since 1983(25 years) to 60 years today

<span style="color: black; font-family: Cambria,serif; font-size: 12pt; line-height: 14.25pt; margin-bottom: 0in;">Punnett Square:

<span style="color: black; font-family: Cambria,serif; font-size: 12pt; line-height: 14.25pt; margin-bottom: 0in;">Since Down syndrome is a disease that affects the chromosomes, there is no Punnett Square. <span style="color: black; font-family: Cambria,serif; font-size: 12pt; line-height: 14.25pt; margin-bottom: 0in;">A physician named John Langdon Down published an essay in England in which he described a set of children with common features who were distinct from other children with mental retardation.

<span style="color: black; font-family: Cambria,serif; font-size: 12pt; line-height: 14.25pt; margin-bottom: 0in;">Waardenburg and Bleyer were the first people to put into play that these abnormalities might be caused by chromosomal abnormalities in the 1930s. But it wasn't until 1959 that Jerome Lejeune and Patricia Jacobs, who worked independently, first figured out the cause to be trisomy (triplication) of the 21st chromosome.

<span style="color: black; font-family: Cambria,serif; font-size: 12pt; line-height: 14.25pt; margin-bottom: 0in;">In trisomy 21, the presence of an extra set of genes leads to overexpression of the involved genes, resulting in an increased production of certain products.

<span style="font-family: Cambria,serif; font-size: 12pt; line-height: 14.25pt; margin-bottom: 0in;">The 21st chromosome may actually hold 200 to 250 genes, but it's estimated that only a small percentage of those may eventually be involved in producing the features of Down syndrome

<span style="color: black; font-family: Cambria,serif; font-size: 12pt;">﻿Resources:

<span style="color: black; font-family: Cambria,serif; font-size: 12pt; line-height: 115%;">[] <span style="color: black; font-family: Cambria,serif; font-size: 12pt; line-height: 115%;">[] <span style="color: black; font-family: Cambria,serif; font-size: 12pt; line-height: 115%;">[] <span style="color: black; font-family: Cambria,serif; font-size: 12pt; line-height: 115%;">http://ndss.org/index.php?option=com_content&view=article&id=54&Itemid=74

<span style="color: black; font-family: Cambria,serif; font-size: 12pt; line-height: 115%;">http://www.dsrtf.org/page.aspx?pid=357