Синдром «кошачьего крика»Синдром «к

Синдром «кошачьего крика»
Синдром «кошачьего крика» (синдром Лежена) – частичная моносомия, связанная с нарушением структуры короткого плеча 5-ой хромосомы (потерей от 1/3 до 1/2 его длины, реже - полной утратой короткого плеча). Синдром «кошачьего крика» относится к числу редких хромосомных заболеваний с популяционной частотой 1:45-50 тыс. Среди новорожденных с синдромом «кошачьего крика» отмечается преобладание девочек над мальчиками в соотношении 4:3. Заболевание было описано в 1963 г. французским генетиком и педиатром Ж. Леженом и по автору получило название «синдром Лежена». Однако в литературе за данной патологией закрепилось образное название, связанное со специфическим признаком – плачем новорожденных, напоминающим кошачий крик.
Причины
Развитие синдрома «кошачьего крика» связано с потерей фрагмента 5-ой хромосомы, а, следовательно, генетической информации, хранящейся на этом участке. В 85-90% случаев делеция короткого плеча образуется в результате случайной мутации, в 10-15% наследуется от родителей, являющихся носителями сбалансированной транслокации.
Наиболее частыми цитогенетическими вариантами хромосомной аберрации служат утрата одной трети или половины длины короткого плеча 5-ой хромосомы. Потеря меньшего участка или всего плеча встречается исключительно редко. При этом для степени выраженности клинической картины синдрома «кошачьего крика» важен не размер утерянного фрагмента, а отсутствие конкретного участка хромосомы. Так, при потере небольшого участка хромосомы в области 5p15.2 развиваются все клинические признаки синдрома, кроме кошачьего крика; критическим для возникновения характерного крика является выпадение участка хромосомы в области 5p15.3.
Наряду с простой делецией, могут встречаться другие цитогенетические вариации синдрома «кошачьего крика»: мозаицизм, кольцевая 5-я хромосома с делецией участка короткого плеча, реципрокная транслокация короткого плеча 5-ой хромосомы на другую хромосому.
Непосредственной причиной мутации могут выступать различные повреждающие факторы, воздействующие на половые клетки родителей либо на зиготу (алкоголь, курение, наркотические вещества, ионизирующая радиация, лекарственные препараты, химикаты и пр.). Вероятность появления ребенка с синдромом «кошачьего крика» выше в семьях, где уже рождались дети с подобным заболеванием.
Фенилкетонурия (ФКУ) – довольно редкое наследственное заболевание, связанное с нарушением обмена аминокислот. Организм больного фенилкетонурией человека не способен расщеплять аминокислоту фенилаланин, которая поступает с белковой пищей. В результате этого, в тканях накапливаются соединения, отравляющие нервную систему и головной мозг в частности. Развивается умственная отсталость (малоумие), вплоть до идиотии. В связи с этим болезнь получила и другое название – фенилпировиноградная олигофрения.

Однако из всех наследственных заболеваний фенилкетонурия, единственное, которое удается полностью нейтрализовать. Сегодня ребенка, рожденного с признаками ФКУ, можно вырастить абсолютно здоровым. Обезопасить мозг малыша удается с помощью специальной диеты, о которой мы расскажем ниже.

В разных странах частота этого заболевания отличается в разы. В России рождается один больной ребенок на 10 000. В некоторых регионах Великобритании этот показатель в два раза выше – 1:5000. Дети на Африканском континенте практически не болеют фенилкетонурией. Среди больных количество девочек почти в два раза превышает количество мальчиков.

Результаты (английский) 1:

Cat's cry syndrome»Cat's cry syndrome "(Ležena syndrome)-partial monosomy, a violation of the short arm of chromosome 5 (loss of 1/3 to 1/2 its length, less total loss of short arm). Cat's cry syndrome "is one of the rare chromosomal disorders in the population frequency 1:45 -50th. Infants with the syndrome of "cat's cry" marked predominance of girls over boys at a ratio of 4: 3. The disease was described in 1963, the French geneticist and pediatrician j. Leženom and author has been called the "Ležena" syndrome. However, in the literature for this pathology stuck a figurative name associated with the specific sign-cry babies, resembling a cat's cry.The reasons for Development of the syndrome of "cat's cry" is related to the loss of a portion of chromosome 5, and, hence, genetic information is stored on this site. In the 85-90% of cases, deletion of the short arm is formed as a result of a random mutation in 10-15% is inherited from parents who are carriers of a balanced translocation.The most frequent chromosomal aberrations are variants of cytogenetic, the loss of one-third or half the length of the short arm chromosome 5. A smaller loss or total shoulder occurs only rarely. The severity of the clinical picture of the cat's cry "is important, not the size of the lost fragment, and the absence of site specific chromosomes. So, with the loss of a small section of chromosome 5 p 15.2 develop all the clinical features of the syndrome, but the cat's cry; critical for occurrence of characteristic scream is the loss of the chromosome 5 p 15.3.Along with a simple deleciej, can meet other cytogenetic variation of "cat's scream: mosaic, ring chromosome 5 with deleciej site a short shoulder strap, reciproknaâ 5-shoulder short translocation chromosome to another chromosome.The immediate cause of mutations can be various damaging factors affecting parental germ cells or a Zygote (alcohol, smoking, drugs, ionizing radiation, drugs, chemicals, etc.). The likelihood of a child with the syndrome of "cat scream higher in families where the children were born with this disease.Phenylketonuria (PKU) is a rare hereditary disease associated with the violation of amino acids. Body is unable to break down human PKU amino acid phenylalanine, which comes with a protein food. As a result, in the tissues accumulate compounds poisoning the nervous system and the brain in particular. Develops mental retardation (maloumie), right down to the idiocy. The disease has received and another name-phenylpyruvic mental retardation.However, of all the hereditary disease phenylketonuria, the only thing that can neutralize. Today, a child born with PKU can grow perfectly healthy. Secure the baby's brain is through a special diet, which we will explain below.In different countries, the frequency of this disease is different at times. In Russia, one sick child is born at 10000. In some regions of the uk, this figure is twice-1: 5000. Children on the African continent does not have pku. Among patients, the number of girls is almost twice the number of boys.

Результаты (английский) 2:

Syndrome of "cat cry"
syndrome "cat cry" syndrome (Lejeune) - partial monosomy related to disruption of the structure of the short arm of the 5th chromosome (loss of 1/3 to 1/2 of its length, at least - the complete loss of the short arm). Syndrome of "cat cry" is a rare chromosomal disorders with a population frequency of 1: 45-50 thousand. Among the infants with the syndrome of "cat cry" says the predominance of girls over boys in a ratio of 4: 3. The disease was described in 1963 by French geneticist and pediatrician J. Lejeune and the author has been called "syndrome Lejeune." However, the literature of this pathology stuck figurative name associated with a particular sign - crying newborn, resembling a cat cry.
The causes
of the syndrome of "cat cry" is due to the loss of a fragment of the 5th chromosome, and thus the genetic information stored on this site. In 85-90% of cases, the deletion of the short arm is formed as a result of random mutations in 10-15% inherited from parents who are carriers of balanced translocation.
The most frequent cytogenetic variants of the chromosomal aberrations are the loss of one-third or half the length of the short arm of the fifth chromosome. Loss of smaller portion or all of the shoulder occurs only rarely. In addition, for the severity of the clinical picture of the syndrome of "cat cry" is important is not the size of the lost fragments and the absence of a specific segment of a chromosome. Thus, the loss of a small section of chromosome 5p15.2 region in the development of all clinical signs of the syndrome, in addition to the cat cry; critical for the emergence of the characteristic cry is falling in the region of chromosome 5p15.3.
Along with the simple deletion, can meet other Cytogenetic variation syndrome "cat cry": mosaicism, ring chromosome 5 deletion of the short arm portion, reciprocal translocation of short arm of 5- chromosome to a different chromosome.
The immediate cause of the mutation can be different damaging factors affecting the parents' germ cells or a zygote (alcohol, smoking, drugs, ionizing radiation, drugs, chemicals, etc.). The probability of having a child with the syndrome of "cat cry" higher in families where the children have been born with similar disease.
Phenylketonuria (PKU) - a rare hereditary disease associated with metabolic disorders of amino acids. The body of the patient with phenylketonuria person is not able to break down the amino acid phenylalanine, which comes with a protein food. As a result, the compounds accumulate in the tissue, poisoning the nervous system and the brain in particular. Develops mental retardation (maloumie), up to idiocy. In this regard, the disease has another name - phenylpyruvic oligophrenia. But of all hereditary diseases phenylketonuria, the only one that can be completely neutralized. Today, a child born with signs of PKU can grow perfectly healthy. Secure the brain manages kid with a special diet, which we describe below. In different countries, the frequency of this disease is different at times. The Russian born a sick child 10 000. In some parts of the UK, the figure is twice as high - 1: 5000. Children in Africa suffer from phenylketonuria little. Among patients with the number of girls is almost twice the number of boys.

Результаты (английский) 3:

"The cat syndrome," alpha kappa kappa me
syndrome "cat," alpha kappa kappa me (syndrome of PI e albumose e from pgfla) -- part of the single staining, destroy the structure of the 5 - Oh (before the loss of chromosome short shoulder from the 1 / 31 / 2 of the length,Complete loss of less short shoulder). "A cat," alpha kappa kappa me syndrome is a rare chromosomal disease frequency and are from a tse.png are for me from the society in a series of 1:45 ~ 500000.The syndrome of the newborn, "alpha kappa kappa me that" cat girls than boys the odds ratio of 4: 3. In 1963, the disease is described. France has had me, E T C M K and the pediatrician, uh.According to the author's name and received by PI albumose has had a m e e Le albumose syndrome "from". However, the specific name of mark image in the pathology literature fixed in the given society, and the neonatal pgfla are from me. M from the elixir slow to cat -- cry, scream.Contact the chromosome fragment

"cat," the development of alpha kappa kappa me loss syndrome of the 5 - Oh, genetic information storage, therefore, in this period.In 85 to 90% cases of shoulder deletions form random mutations of short, in 10 to 15% from their parents, the genetic equilibrium studies. From the PI kappa alpha C C tse.png me me
carriers.The genetics of chromosome aberration of the most common cell selection provides half the length of the 1/3 loss or the short arm of chromosome 5.A smaller loss of partial or total shoulder encountered extremely rare. In this state allus studies. From the society has increased its albumose me degree of clinical syndrome, "alpha kappa kappa me, important is not the" cat paintings from fragments,The plot and lack of specific chromosomes. So, the clinical features of the development of 5p15.2 deletion syndrome in all areas lost in a small part of the chromosome, in addition to;The key is the distinctive scream plot occurred in the area 5p15.3. to e e Le prolapse chromosome tse.png me
with von cytogenetic changes simple, can meet the requirements of other syndrome, "alpha kappa kappa me:" catChimera, 5 - and I will e a e le me von ring chromosome swap shoulder short, short to another chromosome chromosome 5
- oh.The reasons are from the state, mutations directly by albumose. To me by elixir factors can talk a different role in any germ cells, parents in spring von its development (alcohol, smoking, addictive substances, ionizing radiation,Drugs, chemicals and OL.). "The cat appeared above the kappa kappa alpha in probability," syndrome in children in the family, the children have the illness there
.Phenylketonuria (phi kappa y) -- a rare genetic disease, involving amino acids sharing violation. The body of patients with phenylketonuria were not able to make the amino acid phenylalanine split,Protein from foods. Therefore, the toxic compounds in tissues of accumulation, especially the nervous system and brain. Mental retardation (a C a m e le me) development, to me, me until me from me.Associated with this disease and a PI Phi P E T c me from the scene of the first part -- another name amphetamine received. But from

all genetic disease phenylketonuria, the only completely neutralized.Today, signs of the birth of a baby, you can grow a Phi kappa, is absolutely healthy. Vaccination of infants with special diet managed to get through the brain, we tell the following

.The disease in different countries is different frequency doubled. In a sick child was born in 100000 in russia. In some areas, this number is two times more than the British -- 1: 5000.The children hardly ill in Africa, pku. The number of patients with girls nearly two times the number of boys
.