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Down's syndrome

Trisomy of 21st chromosome

Flat face Large anterior fontanelle Open sutures Small slanting eyes with epicanthal folds Open mouth Frequent prognathism Macroglossia

Fissured or pebbley tongue

High arched palate Malformed teeth

Decreased caries

Sexual underdevelopment Cardiac abnormalities Hypermobility of joints Mentally retarded

Klinefelter syndrome

Extra X chromosome in males



short limbs



Missing X chromosome



Prominent ears of posterior neck


Low posterior hairline

Congenital lymphedema Broad chest Hypogonadism

Autosomal dominant disorders Autosomal recessive disorders

arise due to defect in at least one gene out of a pair of genes on autosomes.

Disease usually appears in each generation Delayed age of onset Vertically transmitted Affected individual has an affected parent Male and female siblings are equally affected Capability of transmission is same in both the affected parents

mesiodens, Hypocalcified


type I Hereditary Dentinogenesis imperfecta, Dentin dysplasia (Radicular type), Apert's syndrome

occur when both the genes on autosomes are affected.

The illness usually appears suddenly in the family Males and females are equally affected Early age of onset Most of the offsprings are normal in the family An affected offspring mayor may not have an affected parent


dysplasia (coronal type), hereditary amelogenesis imperfecta (hypocalcified type II), hypoPhosphatasia, Hurler's syndrome

A genetic counselor must have: I. Precise and fully confirmed diagnosis of the disease 2. Accurate pedigree of the family 3. Knowledge of the mode of inheritance of the condition

I. Advanced maternal age (e.g., Down's syndrome) 2. Previous child with chromosome aberration 3. Congenital anomaly 4. Structural anomalies found on ultrasonography 5. Person with mental retardation or developmental delay


Visualization of Fetus

Ultrasonography: With this technique it is now possible to visualize the embryo as early as 51/2 to 6 weeks of pregnancy and cardiac activity is detectable at 7-8 weeks.
Radiography can also be done

2. Analysis of Fetal Tissue Amniocentesis Chorionic villus sampling

Amniocentesis (Optimum time: 16-18 weeks of gestation):

Under strict aseptic conditions and local anesthesia, 20-30 ml of fluid is aspirated.

About 90% of all amniocentesis are performed for cytogenetic analysis. The rest 10% is used for biochemical investigation. The fibroblast-like cells obtained at Amniocentesis. A minimum of 15 cells are examined and the modal chromosome number is established. Sex determination of fetus is 99% accurate by this method.

Chorionic villus sampling (optimal time 9-12 weeks) 10-25 mg of chorionic villi is collected. Because the Langerhans cells of the cytotrophoblast are in dividing phase, it is possible to perform a "direct" chromosome analysis, immediately after sampling, or alternately after 24 hours of incubation in a tissue culture medium.

OTHER TESTS Fetal and maternal blood analysis non-invasive prenatal diagnosis. Fetal liver biopsy Fetal skin biopsy

Genetic Engineering in Dental Caries S mutans has been genetically modified, lacking the specific gene codes for the enzymes necessary to produce decay. These modified strains are being incorporated in daily use eatables like apple, milk, yoghurt.

1. Recently a vaccine has been discovered, a protein called p1025. This protein tricks S mutans leaving no vacant sites for its attachment on tooth.

2. Robert Buine (2000) had developed strains of S mutans that are endowed with a gene to increase production of urease which creates basic conditions conducive to remineralisation.
3. Replacement Therapy: A harmless effector strain is permanently implanted in the host's microflora.

Biomimetic Materials

Genetically engineered materials are under the trial which may mimic the nature of tooth substance and help to regenerate the dental tissue.

Two properties which must be satisfied for a cell to be defined as a stem cell are: Self-renewal Multi-lineage differentiation

Stem cells can be classified as: Embryonic or fetal stem cells Postnatal or adult stem cells

Dental Pulp Stem Cells (DPSC) DPSCs are the stem cells which have the ability to regenerate the dentin-pulp complex.

Stem Cells from Human Exfoliated Primary Teeth (SHED) The stem cells from human exfoliated primary teeth have been identified to form part of highly proliferative, clonogenic cell capable of differentiating into variety of cells types including neural cells, adipocytes, and odontoblasts.

The DPSCs and SHED are being utilized to a great extent in regenerative endodontics.