Encyclopedia
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Genetic basic concepts |
What are chromosomes |
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Our genes |
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Mode of inheritance |
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Autosomal dominant |
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Autosomal recessive |
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X- linked |
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Mitochondrial |
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Fertility and genetic |
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The normal fertility - Genetic problems causing infertility |
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in females |
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in males |
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Pregnancy loss and genetic anomalies |
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Miscarriages in the first trimester of pregnancy |
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Fetal death in a previous pregnancy |
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Therapeutic termination of pregnancy for fetal disorders |
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New techniques to overcome infertility - there risks to the
fetus |
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Planning a pregnancy |
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Genetic counseling |
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Reduce risk for fetal anomalies before the pregnancy |
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Family history which increase risks |
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Down syndrome in the family |
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Consanguinity |
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Advanced maternal age |
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Advanced paternal age |
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Screening tests for detection of carriers |
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In families with patients with known genetic disease |
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In the general population |
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Tay sachs |
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Thalassemia |
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Cystic fibrosis |
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Fragile X |
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Canavan disease |
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Familial dysautonomia |
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Introduction to cystic fibrosis, Gaucher disease, Canavan disease,
Familial dysautonomia, Bloom syndrome and Fanconi anemia |
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Gaucher disease |
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Alpha-1-antitrypsin deficiency |
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Ataxia telangiectasia |
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Glycogen storage disease (GSD) |
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Severe combined immune deficiency |
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Medications and environmental factors affecting
the fetus and causing anomalies |
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Medication and X-rays during pregnancy |
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Maternal diseases affecting the fetal development |
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Diabetes mellitus |
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Hypertension |
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Systemic lupus (SLE) |
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Others |
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The risk of transmitting common diseases |
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Maternal diseases and their effect on the fetus |
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Intrauterine growth retardation |
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Multiple gestations |
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Tests during the pregnancy |
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Screening for chromosomal anomalies / Down syndrome:
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Maternal serum triple markes:
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Meaning of results |
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Alpha fetoprotein blood biochemical screening test |
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A low estriol level in the mother's blood biochemical screening:
Ichthyosis and other possibilities |
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High hCG levels |
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Nuchal translucency
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Medical recommendation for amniocentesis
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An infant with Down syndrome
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Biochemical screening for the detection of Down syndrome
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Ultrasound findings:
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Soft signs
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Failure to detect the Gallbladder on Ultrasonography
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Small stomach or failure to detect the stomach on ultrasonography
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Short femur
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Unilateral renal agenesis (absence of one kidney)
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Dilated renal pelvis
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Macrocephaly/megalencephaly (increased head circumference)
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Oligohydramnios (too little amniotic fluid)
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Polyhydramnios (excess amniotic fluid)
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Nuchal edema (thickened nape) and/or cystic hygroma
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Nuchal cysts (cysts in the fetus' neck)
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Echogenic bowel
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Two blood vessels in the umbilicus (single umbilical artery)
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Echogenic focus in the fetus's heart (golf ball)
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Choroid plexus cyst
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Micrognathia and pierre robin sequence
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Any organ not demonstrated by ultrasound
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Echogenic foci or calcifications in the umbilical cord, abdomen
or stomach
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Placental problems: cysts, hematoma (bleeding),partial placental
separation, large/thick placenta
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Failure to demonstrate the fifth middle phalanx
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Anomalies
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Clubfoot
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Bilateral renal agenesis or severe renal hypoplasia
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Neural tube defects - NTD
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Polydactyly (supernumerary digits)
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Situs inversus
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Syndactyly (fusion of digits)
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Bilateral ventriculomegaly between 10 and 14 mm
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Ventriculomegaly (unilateral or bilateral) in excess of 14 mm
and/or progressive ventriculomegaly - hydrocephalus
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Unilateral ventriculomegaly between 10 and 14 mm
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Hypospadias
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Defect in the closure of the abdominal wall Omphalocele and
gastroschisis
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Diaphragmatic hernia
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Pleural effusion
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Irregularities or defects in the structure of the vertebrae
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Amniotic band syndrome
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Sacrococcygeal teratoma
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Multiple defects
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Intrauterine infection
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Cytomegalovirus (CMV) and pregnancy
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Intrauterine infections (TORCHS and others)
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Others
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Invasive tests
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Auxiliary invasive tests
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Chorionic villus sampling (CVS)
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Cordocentesis |
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Others
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Interpretation of the cytogenetic (chromosomal study of fetal cells (from amniotic
fluid, etc…)
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Chromosomal anomalies - general
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Specific chromosomal anomalies
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Down syndrome
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Trisomy 18
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Trisomy 13
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XXX (triple X) Syndrome
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XYY syndrome
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Trisomy 20 ( mosaic )
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Reciprocal translocation
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Robertsonian translocation
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Molecular tests
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Preparation for birth
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Types of molecular tests
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Testing the disease-causing gene for mutations that are common
in a specific ethnic group - autosomal dominant diseases
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Testing the disease-causing gene for mutations that are common
in a specific ethnic group - autosomal recessive diseases
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Testing the disease-causing gene for mutations that are common
in a specific ethnic group – X-linked diseases
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Finding the defect (mutation) by establishing the gene sequence
– autosomal dominant diseases
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Finding the defect (mutation) by establishing the gene sequence
– autosomal recessive diseases
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Finding the defect (mutation) by establishing the gene sequence
– X-linked diseases
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Screening test for identifying defects (mutations) using various
methods such as SSCP – autosomal dominant diseases
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Screening test for identifying defects (mutations) using various
methods such as SSCP – autosomal recessive diseases
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Screening test for identifying defects (mutations) using various
methods such as SSCP – X-linked diseases
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Screening tests for identifying gene products for establishing
the existence of a disease (methods such as protein truncation) – autosomal dominant
diseases
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Screening tests for identifying gene products for establishing
the existence of a disease (methods such as protein truncation) – autosomal recessive
diseases
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Screening tests for identifying gene products for establishing
the existence of a disease (methods such as protein truncation) – X-linked diseases
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Indirect testing for genetic markers in a family that has a
number of patients – when there is only one gene that can cause the disease – autosomal
dominant diseases
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Indirect testing for genetic markers in a family that has a
single patient – when there is only one gene that can cause the disease – autosomal
dominant diseases
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Indirect testing for genetic markers in a family that has a
one or more patients – when there is only one gene that can cause the disease –
autosomal recessive diseases
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Indirect testing for genetic markers in a family that has a
one or more patients – when there is only one gene that can cause the disease –
X-linked diseases
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Indirect testing for genetic markers in a family that has a
number of patients – when there are a number of genes that can each cause the disease
– all genes having been located / identified / mapped – autosomal dominant diseases
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Indirect testing for genetic markers in a family that has a
number of patients – when there are a number of genes that can each cause the disease
– all genes having been located / identified / mapped – autosomal recessive diseases
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Indirect testing for genetic markers in a family that has a
number of patients – when there are a number of genes that can each cause the disease
– all genes having been located / identified / mapped – X-linked diseases
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Indirect testing for genetic markers in a family that has a
number of patients - when there are a number of genes that can each cause the disease
- not all genes having been located / identified / mapped - autosomal dominant diseases
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Indirect testing for genetic markers in a family that has a
number of patients - when there are a number of genes that can each cause the disease
- not all genes having been located / identified / mapped - autosomal recessive
diseases
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Indirect testing for genetic markers in a family that has a
number of patients - when there are a number of genes that can each cause the disease
- not all genes having been located / identified / mapped - X-linked diseases
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Indirect testing for genetic markers in a family that has one
or several patients - when there are a number of genes that can each cause the disease
- the gene, or most of the genes not having been located / identified / mapped -
autosomal dominant diseases
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Indirect testing for genetic markers in a family that has one
or several patients - when there are a number of genes that can each cause the disease
- the gene, or most of the genes not having been located / identified / mapped -
autosomal recessive diseases
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Indirect testing for genetic markers in a family that has one
or several patients - when there are a number of genes that can each cause the disease
- the gene, or most of the genes not having been located / identified / mapped -
X-linked diseases
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Indirect testing for genetic markers in a family that has one
or several patients - when there are a number of different genes that can each cause
the disease - the gene, or most of the genes not having been located / identified
/ mapped - multifactorial diseases
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Limitations of molecular genetic tests
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How is a molecular genetic test performed?
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Biochemical enzymatic tests
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Special cytogenetic tests
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The various genetic diseases
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Familial deafness
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Muscle diseases and muscular dystrophy
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Limb girdle muscular dystrophy
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Facioscapulohumeral muscular dystrophy (FSHD)
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Limb Girdle Muscular Dystrophy (LGMD)
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Inclusion body muscular dystrophy (HIBM)
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Fragile X syndrome
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Achondroplasia and hypochondroplasia
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Polycystic kidney disease
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Neurofibromatosis
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Autism - Pervasive Developmental Disorder (PDD)
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Cerebral palsy (CP)
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Mental illnesses - psychiatric problems
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Spinal muscular atrophy (SMA)
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Duchenne and Becker muscular dystrophy
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Congenital muscular dystrophy
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Hemophilia
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Albinism
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Epilepsy - convulsions
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Williams syndrome
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Tourette syndrome
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Rett syndrome
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Creutzfeldt Jakob syndrome
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G6PD deficiency
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Hypothyroidism
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Hyperthyroidism
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Rubinstein Taybi syndrome
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Muscle diseases arising from disorders in the muscle respiratory
chain complexes
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Charcot Marie Tooth - CMT or Hereditary Motor and Sensory Neuropathy
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Usher syndrome
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Alpha-1-antitrypsin deficiency
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Ataxia telangiectasia
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Infantile ceroid lipofuscinoses
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Diastrophic dysplasia
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Tuberous sclerosis
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Myotonic dystrophy
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Congenital diseases of the skeleton – general (previous name:
“dwarfism”)
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Multiple epiphyseal dysplasia (MED)
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Spondylo-epiphyseal dysplasia (SED)
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Osteogenesis imperfecta (defective mineralization of bone)
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Severe skeletal disorders resulting in intrauterine death or
death up to the age of a few weeks – lethal types of skeletal disease
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Other metabolic disorders of bone – hypermineralization of the
bone, etc.
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Angelman syndrome and Prader Willi syndrome
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Multiple sclerosis
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The common diseases affecting adults
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Cancerous tumors in the immediate family |
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Breast cancer |
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Colon cancer |
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Others |
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The human genome project |