Chromosme 11 

Chromosome 11 is one of the 23 pairs of chromosomes in the human karyotype. The population has, under normal conditions, two copies of the chromosome. The chromosome 11 has about 134.5 million base pairs, representing between 4 and 4.5% of total cell DNA. This is responsible for producing some enzymes such as acetyl-Coenzyme A acetyltransferase 1 (acetoacetyl-Coenzyme A thiolase), carnitine palmitoyltransferase 1A (liver), 6-pyruvoyltetrahydropterin synthase and some vital substances such as hemoglobin or serum amyloid A1.

Diseases and Disorders

The following disorders are related to changes in the number or structure of chromosome 11

• ·         Faisalabad histiocytosis
• ·         hypoalphalipoproteinemia
• ·         Ataxia telangiectasia
• ·       diabetes mellitus
• ·         vitreoretinopathy
• ·         acromegaly
• ·        Best macular dystrophy
• ·         paragangliomas
• ·      Omenn syndrome

Among the most prominent and common are these two:

Sickle Cell Anemia: Sickle cell anemia, sickle cell disease or sickle cell anemia is a hemoglobinopathy, disease that affects hemoglobin, a protein that is part of red blood cells and is responsible for oxygen transport. Is genetic and is given by the substitution of an amino acid valine for glutamic acid in the sixth position of the beta globin chain (typically having glutamic acid), this causes to low oxygen pressure the erythrocyte to deform and acquire appearance of a sickle, the new form causes difficulty circulation of red blood cells therefore are clogging the blood vessels and cause symptoms such as pain in the extremities. Red blood cells also have a shorter life causing anemia not be replaced in time.

mellitu diabetes: Diabetes mellitus (DM) is a group of metabolic disorders that affect different organs and tissues, lifelong and is characterized by increased levels of blood glucose: hyperglycemia. The cause various disorders, the main low production of the hormone insulin, secreted by the β cells of the Islets of Langerhans of the endocrine pancreas, or by the improper use of the body, which will affect the metabolism of carbohydrates , lipids and proteins.

The main symptoms of diabetes mellitus are excessive emission of urine (polyuria), abnormal increase in the need for eating (polyphagia), increased thirst (polydipsia), and weight loss for no apparent reason. The Organization Saludreconoce three types of diabetes mellitus: type 1, type 2 and gestational diabetes (occurring during pregnancy), each with different causes and different influence.

Chromosome 12 

Chromosome 12 is one of the 23 pairs of chromosomes in the human karyotype. The population has, under normal conditions, two copies of the chromosome. The chromosome 12 has about 132 million base pairs, representing between 4 and 4.5% of total cell DNA. Chromosome 12 contains an important set of genes involved in the control of embryonic development. Another group used to make the taste receptors. There is also genes related to the synthesis of keratin, the protein of hair and nails. The chromosome contains a gene which is one of the vitamin D receptor

Diseases and Disorders

The following disorders are related to changes in the number or structure of chromosome 11

                 ·         Achondrogenesis type 2

                 · Von Willebrand Disease

                 ·  Collagenopathy, types II and XI
                 · Phenylketonuria
                 ·Hereditary hemorrhagic telangiectasia   ·
                 · Espondiloepimetafiseal dysplasia, Strudwick type
                 · Hipocondrogénesis
                 · Espondiloepimetafiseal congenital dysplasia
                 · Kniest dysplasia
                 · Dysplasia espondiloepimetafiseal
                 · Acidenia methylmalonic
                 · Stickler Syndrome
                 · Nonsyndromic deafness
                 · Papillon-Lefèvre Syndrome
                 · Noonan Syndrome
                 · Deficiency triose phosphate isomerase
                 · Parkinson's Disease
                 · Tyrosinemia
                 · Pallister-Killian Syndrome
                 · Rickets

          

        Among the most prominent and common are these two:

        

       Fenilcenoturia: Phenylketonuria, also known as PKU is an inborn error of metabolism caused by a deficiency of the enzyme phenylalanine hydroxylase, resulting in an inability to metabolize the amino acid from phenylalanine to tyrosine in the liver. It is a congenital disease with a recessive inheritance pattern. It is a type of hyperphenylalaninemia.

      Rickets: Rickets is caused by a defect unaenfermedad nutrition, characterized by skeletal deformities. It is caused by a decrease in the mineralization of bone and cartilage due to low levels of calcium and phosphorus in the blood. A major clinical seventeenth century, Francis Glisson was the one who gave further explanation of child stunting (deformation of the head, thorax and persimmons) in his book on the subject which says that small joints move patients and tend rather to sit still.

Cromosoma 13

The chromosome 13 is one of the 23 pairs of chromosomes in the human karyotype. The population normally has two copies of this chromosome. The chromosome 13 consists of about 113 million base pairs, representing between 3.5 and 4% of the total cell DNA. ATPase is responsible for producing, gap junction protein, propionyl-Coenzyme A carboxilas, Fms tyrosine kinase-related 1.

·         zonular cataract

·         Syndrome leukemia / lymphoma stem cells

·         Esophageal Carcinoma

·         Muscular dystrophy, Duchenne similar to ded

·         Autosomal recessive spastic ataxia of Charlevoix-Saguenay

·         Breast cancer

·         Troyer syndrome

·         Alveolar Rhabdomyosarcoma

·         Wilson Disease

·         Holoprosencephaly

·        Malabsorption primary biliary

·          Squamous cell carcinoma of the head

·         Ataxia cerebelosa

·         Diabetes mellitus no dependiente de insulina

·         Esquizofrenia

·         Factor VII deficiency

·         Oguchi disease

Breast cancer: Breast cancer is the uncontrolled growth of malignant cells in the breast tissue. There are two main types of breast cancer, ductal carcinoma, the most common, which begins in the ducts that carry milk from the breast to the nipple and lobular carcinoma starts in parts of the breast, called lobules, that produce milk mother.

Retinoblastoma: Retinoblastoma is a cancer of the retina caused by a mutation in the Rb protein, encoded by a tumor suppressor gene called RB1.1 This tumor occurs mostly in children and accounts for 3% of cancers suffered by children fifteen years. It is the leading cause of primary intraocular malignancy in children and the estimated annual incidence is approximately 4 per million children.

Cromosoma 14

Chromosome 14 is one of the five acrocentric chromosomes of the human genome and the fourth chromosome whose entire genetic sequence was known.

The chromosome 14 has 87,410,661 bp, genes and gene fragments 1050 and 393 pseudogenes.

Among his genes, about 60 have been associated with diseases such as Alzheimer's early, Usher syndrome and various heart diseases and defects of vision and hearing.

· Cell Apoptosis, temperature dependent
· Retinitis pigmentosa
· Spastic Paraplegia
· Nezelof Syndrome
· Family Goiter
· Disease Hers
· Leukoencephalopathy
· Niemann-Pick
· Microphthalmia, cataracts and iris dysplasia
· Tyrosinemia, type Ib
· Krabbe Disease
· Papillary thyroid carcinoma
· Occlusive cerebrovascular disease
· Leukemia / T-cell lymphoma
· Anemia megaloblastic type
· Norwegian
· Cutaneous Melanoma
· Agammaglobulinemia

      Alzheimer's Disease: Alzheimer's disease (AD), also called Alzheimer's disease or senile dementia of Alzheimer type (SDAT) or simply Alzheimer's is a neurodegenerative disease that manifests as cognitive and behavioral disorders. It is characterized in its typical form by a progressive loss of memory and other mental abilities, as nerve cells (neurons) die and different areas of the brain atrophy.

Breast cancer: Breast cancer is the uncontrolled growth of malignant cells in the breast tissue. There are two main types of breast cancer, ductal carcinoma, the most common, which begins in the ducts that carry milk from the breast to the nipple and lobular carcinoma starts in parts of the breast, called lobules, that produce milk mother.

Chromosome 15 

Chromosome 15 is one of the 23 pairs of chromosomes in the human karyotype. The population has, under normal conditions, two copies of the chromosome. The chromosome 15 has about 106 million base pairs, representing between 3 and 3.5% of total cell DNA. This is responsible for producing some enzymes as hexosaminidase A (alpha polypeptide). V, fumarylacetoacetate hydrolase (fumarilacetoacetasa). Some substances such as fibrillin-1, and gives microcephaly among other traits like eye color brown.

Diseases and Disorders

The following disorders are related to changes in the number or structure of chromosome 15

• Juvenile Epilepsy
• Marfan Syndrome
• Prader-Willi
• oculocutaneous albinism
• Angelman Syndrome
• Schizophrenia
• Deafness stereocilin deficit
• spherocytosis
• Bartter Syndrome
• Muscular Dystrophy
• Congenital Hypothyroidism
• Family Gynecomastia
• Griscelli Syndrome
• Marfan Syndrome
• familial hypertrophic cardiomyopathy
• Tay-Sachs
• Bardett-Biedl Syndrome
• sterile pyogenic arthritis
• tyrosinemia type I
• progressive ophthalmoplegia
• Bloom Syndrome

Among the most prominent and common are these two:

Epilepsy Juvenile Juvenile myoclonic epilepsy (JME) is an inherited syndrome characterized by nonprogressive myoclonic jerks seizures with bilateral, single or repetitive, predominantly in arms. Objective: To analyze the clinical and electroencephalographic features in patients with JME. Methods: The medical records of 13 patients evaluated at the Clinical Hospital of Maracaibo from 1990 to 1999 who met the diagnostic criteria for EMJ

Marfan syndrome Marfan syndrome is a rare connective tissue disease that affects different structures, including skeleton, lungs, eyes, heart and blood vessels. It is characterized by an abnormal increase the length of the members. It is thought to affect two out of 10,000 people and, unlike other genetic problems, does not adversely affect intelligence.

cromosoma 16 

Chromosome 16 is one of the 23 pairs of human karyotype crmosomas Humans normally have two copies of this chromosome. The chromosome 16 has about 90 million pa, representing less than 3% of the total amount of DNA genoma.de 90 million base pairs, representing less than 3% of the total genome DNA. Main Responsible mind producing substances such as chemokine (CC motif) ligand 17 (scya17), chemokine (CC motif) ligand 22 (scya22), ubiquitin biosynthesis.

Enfermedades y trastornos

The following disorders are related to changes in the number or structure of chromosome 16.

• Thalassemia
• Hepatoma carcinocelular
• Mucolipidosis III
• Rubenstein-Taybi Syndrome
• Xeroderma pigmentosum
• Essential hypertension
• Deafness, autosomal dominant
• progressive familial cholestasis
• Renal Glycosuria
• diffuse large B cell lymphoma
• Blau syndrome
• Family cylindromatosis
• Towes-Brocks syndrome
• Gitelman Syndrome
• autosomal recessive Retinitis pigmentosa
• Tyrosinemia. Richner-Hanhart syndrome
• macular corneal dystrophy
• Hypertension due to mineralocorticoid excess
• esophageal squamous cell carcinoma
• Mucopolysaccharidosis type IVa
• Spastic Paraplegia

Among the most prominent and common are these two:

        Thalassemia: Thalassemia anemia is a type of hereditary anemias group in which there is decreased synthesis of one or more of the polypeptide chains of the hemoglobin. There are several genetic types with clinical pictures ranging from barely detectable hematologic abnormality to severe anemia and terminal illness boxes.

           

Polycystic kidney disease: Polycystic kidney disease (PKD acronym). It is a progressive disease of kidney genetics. It occurs in humans and other organisms. This is characterized by the presence of multiple cysts in both kidneys. The disease can also damage the liver, pancreas, and rarely the heart and brain.