Defination

Question 1

Genetic Anticipation

Answer 1

When certain genetic disorders are passed from one generation to the next, the signs and symptoms may become more severe with each generation.
Example - Huntington disease, myotonic dystrophy, fragile X syndrome

Question 2

Gene

Answer 2

A gene is the basic physical and functional unit of heredity. Genes are made up of DNA. Some genes act as instructions to make molecules called proteins. However, many genes do not code for proteins. In humans, genes vary in size from a few hundred DNA bases to more than 2 million bases

Question 3

What’s a chromosome

Answer 3

A chromosome is a DNA molecule that contains the genetic information for an organism. The chromosomal structure is composed of the organism’s DNA and special proteins to form the dense, coiled architecture. Chromosomes are threadlike structures made of protein and a single molecule of DNA that serve to carry the genomic information from cell to cell. In plants and animals (including humans), chromosomes reside in the nucleus of cells

Question 4

Mismatched base repairs MMR

Answer 4

DNA mismatch repair is a system for recognising and repairing wrong insertions, deletions and mis incorporation of bases that can arise during replication and recombination as well as in DNA repairs in case of damages . Defects in MMR can drive carcinogenesis

Question 5

Carcinogenesis

Answer 5

Process by which norms healthy cells transform into cancer cells

Question 6

Stages of cancer

Answer 6

T - describes size of the tumor and how far it has spread into nearby tissues
N - where there are any cancer in the lymph node
M - describes whether it has spread to any other part of the body

Question 7

MSI

Answer 7

Micro satellite instability is the condition of genetic hypermutability that results from impaired DNA mismatch repair MMR .
MSI represents phenotypic evidence that MMR is not functioning normally. It manifests an abnormal length of microsatellite repeats.

Question 8

PSTD

Answer 8

Post traumatic stress disorder

Question 9

BMI

Answer 9

Adult BMI
BMI Status
≤ 18.4 Underweight
18.5 - 24.9 Normal
25.0 - 39.9 Overweight
≥ 40.0 Obese

BMI is calculated by dividing a person’s weight in kilograms/ his height’s value ( convert into meter and square it )

Question 10

Low density and high density base pairs

Answer 10

Sequences with a greater ratio of A+T display a lower density while those with a greater ratio of G+C display a higher density than the bulk of genomic DNA.
G-C pair has 3 hydrogen bonds, while the A-T pair has only 2

Question 11

Genetic ancestry

Answer 11

Genetic ancestry testing involves the comparison of a large number of DNA variants measured in an individual with the frequencies of these variants in reference populations sampled from across the world. The geographic region in which an individual variant has its highest frequency is assumed to be the most likely location of an ancestor who transmitted the variant to the person being tested. Ancestry testing is traditionally done for mitochondrial DNA (transmitted only by females and reflecting the origin of 1 maternal ancestor) and for Y chromosome DNA (transmitted only from father to son and reflecting the origin of 1 paternal ancestor). A more comprehensive assessment of ancestry can be conducted by assaying a half million or more autosomal variants (single-nucleotide variants [SNVs]; formerly single-nucleotide polymorphisms [SNPs]). which are inherited from both parents. Most commonly, these SNVs are assayed using a DNA microarray, but DNA sequence data can also be used. For autosomal testing, it is common to portray the most likely geographic origin of a group of SNVs located within a chromosome segment (eg, ancestry painting) By counting the percentage of SNVs originating from each geographic region, the percentage of an individual’s ancestry derived from each region can be estimated.

Question 12

Cis trans allele

Answer 12

When both the recessive or the dominant alleles for two traits are on the same chromosome, it is called the cis phase. However, when a recessive and dominant allele for the different traits are on the same chromosome, we call it the trans phase.

Question 13

Snp

Answer 13

A single nucleotide polymorphism (abbreviated SNP, pronounced snip) is a genomic variant at a single base position in the DNA

Question 14

CNV

Answer 14

Copy number variants (CNVs) are deletions and duplications of DNA sequence. The most frequently studied CNVs, which are described in this review, are recurrent CNVs that occur in the same locations on the genome. These CNVs have been strongly implicated in neurodevelopmental disorders, namely autism spectrum disorder (ASD), intellectual disability (ID), and developmental delay (DD), but also in schizophrenia

Question 15

Kyphoscoliosis

Answer 15

Kyphoscoliosis is defined as a deviation of the normal curvature of the spine in the sagittal and coronal planes and can include a rotation of the spinal axis. Adult scoliosis is defined as a lateral deviation of more than 10 degrees in the coronal plane as measured by the Cobb angle

Question 16

Hypospadias

Answer 16

A condition in which the opening of the penis is on the underside rather than the tip.

Question 17

pectus carinatum

Answer 17

Pectus carinatum isa deformity of the chest wall in which the breastbone and ribs are pushed outward. Pectus carinatum is sometimes called “pigeon breast” because of the birdlike appearance of the chest.

Question 18

(strabismus)

Answer 18

What is strabismus? Strabismus — also known as hypertropia and crossed eyes — is misalignment of the eyes, causing one eye to deviate inward (esotropia) toward the nose, or outward (exotropia), while the other eye remains focused.

Question 19

heterogeneous, or a heterogeneous disease

Answer 19

medical condition is termed heterogeneous, or a heterogeneous disease, if it has several etiologies (root causes); as opposed to homogeneous conditions, which have the same root cause for all patients in a given group.

Question 20

Incomplete penetrance

Answer 20

A condition is said to show incomplete penetrance when some individuals who carry the pathogenic variant express the associated trait while others do not

Question 21

intertriginous

Answer 21

Intertriginous skin, also known

as skin folds, are sites in which opposing skin surfaces come into contact while at rest, resulting in chronic skin occlusion. The primary intertriginous skin areas include the groin folds, axillae, and gluteal cleft.

Question 22

Microphthalmia

Answer 22

birth defect in which one or both eyes did not develop fully, so they are small

Question 23

Choanal atresia

Answer 23

a narrowing or blockage of the nasal airway by tissue. It is a congenital condition,

Question 24

Microstomia

Answer 24

a condition with a small sized-mouth that results in functional impairment such as difficulty with food intake, pronunciation, and poor oral hygiene and cosmetic problems

Question 25

Hypertrichosis

Answer 25

Hypertrichosis is defined as excessive hair growth anywhere on the body in either males or females

Question 26

anteverted nares

Answer 26

upturned nose with nostrils that tip upwards (

Question 27

(oligodactyly)

Answer 27

of one or more fingers absent

Question 28

(clinodactyly)

Answer 28

fifth fingers that are permanently curved toward the ring finger

Question 29

Ambulation

Answer 29

Walking without support

Question 30

Gynecomastia

Answer 30

increase in the amount of breast gland tissue in boys or men. An imbalance of the hormones estrogen and testosterone causes it. Gynecomastia can affect one or both breasts, sometimes unevenly

Question 31

Achondroplasia

Answer 31

Achondroplasia
Also called: ACH, achondroplasia dwarfism
OverviewSymptomsTreatmentsSpecialists
The most common type of short-limbed dwarfism.
Most cases of dwarfism are caused by a genetic mutation, which is why the majority of people with achondroplasia are born to parents of average height. This mutation is typically found in the FGFR3 gene, although it can sometimes be hereditary.

Question 32

Achondroplasia

Answer 32

Achondroplasia
Also called: ACH, achondroplasia dwarfism
OverviewSymptomsTreatmentsSpecialists
The most common type of short-limbed dwarfism.
Most cases of dwarfism are caused by a genetic mutation, which is why the majority of people with achondroplasia are born to parents of average height. This mutation is typically found in the FGFR3 gene, although it can sometimes be hereditary.