Congenital chromosomal disorders (Chromosomal Problems in Newborn Babies)

Chromosome disorders are common causes of abnormalities, congenital that may affect the brain and other parts of the body. The egg cells that the fertilization consists of 23 chromosomes from the mother and 23 from the father, so normally have 23 pairs of chromosomes. In the fertilized eggs Which includes two sex chromosomes: XX for girls and XY for boys Some chromosome disorders occur when the following chromosome is the example, some of the chromosomal disorders that may affect the function of the brain


The word trisomy or the quartery means that there are 3 chromosome representative to be a normal couple of chromosomes. For example, if the baby has a syndrome Most of them will have 21 chromosomes, three sets instead of a normal couple. And this condition is called "Trisomy 21" Other general trisomy include trisomy 18 and Trisomy 13, which means that there are 18 or 13 chromosomes, three sets, respectively, each of the cells of the body instead of a normal pair

Trisomy 21: Down syndrome

Trisomy 21 is a condition that has 21 chromosomes, which causes symptoms called the current medical syndrome. We can assess the risk of mothers during pregnancy of having a child that is syndrome. By using blood test And early ultrasound examination of pregnancy The risk of having a child syndrome will increase according to the age of the mother. For this reason, women over 35 years have to receive special tests during pregnancy, such as amniotic fluid. To check the baby’s chromosome

Corikotype syndrome

Is a malfunction from cells that contain 23 chromosomes and chromosomes, which are equipped with additional 21 chromosomes as a syndrome syndrome as well. Causing abnormalities as follows Intelligence, slow growth, face disorders Or skull, such as tilted eyes, flat face and heart conditions, important problems is the overall development and intelligence impairment. Babies born with down syndrome can learn basic skills such as ride, walking and speaking, but at the speed slower than other children. Physical therapy can help strengthen the muscles so that these babies can learn basic skills more easily

Trisomy 18

Trisomy 18 irregularities, also known as Edwards Syndrome is a difficult chromosome disorder. Causing children to develop severe delays As well as severe congenital disabilities And health problems related to almost every organ system in the body And causing children to be very long May die since being a baby Or can live up to 10 years

Trisomy 13

Trisomy 13 irregularities, also known as Patau Syndrome, resulting in many irregularities related to almost all organ systems in the body. As well as developing delays by children Often have important structural problems And often the brain is not properly divided into two hemisphers Resulting in a condition called Holocenzafoli Increased finger The testes are not in normal positions. Or abnormal uterus And usually not longevity

Klein Fleet (Klinefelter)

Babies are klein, flex, born from having sex chromosome, over 1 or 2 chromosomes. These babies are always boys and instead of having XY chromosome couple. They have chromosome sex XXY or XXXY. Normally, this disease boy is not possible. Accepted diagnosis until entering the reproductive age The nature of this condition is infertility. Testicular contraction And the development of the breast Intelligence is often not related to this syndrome. Although sometimes it can happen

Treatment of Cline Fleet Will not start until the child is growing about 11-12 years old. There will be a testosterone of the child’s hormone level. Finding low levels will be regularly injected. Testosterone hormone In addition, it can provide male hormones via pads, skin or gel. Testosterone hormone injection helps to increase the body on the body on the underarm and penis. Increase muscle development And sexual driving force And the size of the extended chest

Xyy syndrome

XYY syndrome, also known as 47 xyy syndrome, xyy karyotype or jacob & # 39; s syndrome is a genetic disorder that occurs in approximately 1 in 1,000 children caused by sperm cell disorders. Formation The boys who are XYY have three chromosomes, three chromosomes, instead of two

Turner Syndrome (Turner Syndrome)

Baby with turner symptoms Usually a girl And have one of the lack of one x chromosome Therefore, there are only 45 chromosomes (XO). The characteristics of this condition include The ovary does not work normally. The shape is short. The skeleton is wrong. And the wide breasts with tits spaced

Since most girls who are syndrome Turner disease, lose ovarian work in childhood. They do not enter the reproductive age in normal age. Generally, the treatment is made by providing estrogen hormones to stimulate the development of breast and other characteristics. Of puberty Women who are dearners will be infertilized. These girls need to eat estrogen. To maintain sexual development And protect the bones from osteoporosis Until the age of about 50 years, which is a normal age of menopause

Triple X Syndrome

Baby with Triple X is often a girl with chromosome x 3 agents that will be 2 normal ones. Some women do not show symptoms. But in some people may have a learning impairment There are problems in speaking or language or with other intellectual impairment. May include high shape, small head, problem with movement And infertility

Other disorders Caused by the structure of the chromosome

Some chromosome disorders occur when part of the chromosome has been deleted or repeated. This type of malfunction can cause defects in the organ system. From 1 system up to the examples of malfunctions found include

  • CRI-DU-CHAT SYNDROME The baby will cry like a cat. They may have intellectual impairments. And congenital disability heart There is no way to treat this disease. Intelligence disability has been resolved through special education. And counseling Heart defects must be maintained as needed
  • Angelman Syndrome, the baby will not have a wise impairment, can’t speak and have problems with the development of movement
  • Prader-Willi Syndrome This causes obesity. Wisdom impairment Testosterone hormone in a child in a lower amount than usual The testicles that are not appropriate in the scrotum And sagging muscles
  • Fragile X Syndrome This is the second most common chromosome causes of severe intellectual defects. Secondary from the syndrome syndrome Other outstanding features include a long face, obscure, large ears and in boys. Testicular expansion May have behavior problems And knowledge and understanding
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