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Pedia Lab > Genetic and chromosomal disorders in children > Flashcards

Genetic and chromosomal disorders in children Flashcards

1
Q

It occurs when a mutation (a harmful change to a gene, also known as a pathogenic variant) affects your genes or when you have the wrong amount of genetic material.

A

Genetic Disorders

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2
Q

The basic physical and functional unit of heredity.

A

Gene

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3
Q

This is made of DNA (deoxyribonucleic acid), which contains instructions for cell functioning and the characteristics that make you unique.

A

Genes

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4
Q

It is the molecule that carries genetic information for the development and functioning of an organism

A

DNA

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5
Q

DNA is made of two linked strands that wind around each other to resemble a twisted ladder — a shape known as

A

Double Helix

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6
Q

They are a pair of genes in homologous chromosomes present at a specific locus (specific physical location of a gene or other DNA sequence on a chromosome, like a genetic street address).

A

Alleles

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7
Q

Condition where the paired genes are similar on homologous chromosomes for a character.

A

Homozygous

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8
Q

Condition where the paired genes are not similar on homologous chromosomes for a character.

A

Heterozygous

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9
Q

A hybrid organism is one that is heterozygous, which means that is carries two different alleles at a particular genetic position, or locus.

A

Hybrid

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10
Q

It is a gene which expresses itself in the presence of a contrasting gene.

A

Dominant Gene

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11
Q

It is a gene which fails to express itself in
the presence of a dominant gene.

A

Recessive Gene

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12
Q

It is a term used to denote the transmission of characters from parents to off springs?

A

Inheritance

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13
Q

The manner in which genes and traits are passed from parents to their children. Disorders are caused by a defect in a single gene that follows the patterns of inheritance by Mendel (1965).

A

Mendelian Inheritance

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14
Q

If a trait or disease manifests itself when the affected person carries only one copy of the gene responsible, along with one normal allele, the mode of inheritance of the trait is called

A

Dominant

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15
Q

If two copies of the defective gene are required for expression of the trait, the mode of inheritance is called

A

Recessive

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16
Q

Disease can be inherited from one parent also.
Can affect both males and females
Can be traced through many generations of a family.
Affected people are heterozygous for the abnormal allele and transmit the gene for the disease to half their offspring, whether male or female.

A

Autosomal Dominant

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17
Q
  • Disease can appear only if both parents transmit it.
  • Unaffected parents can transmit the trait to their offsprings(if both parents carry recessive gene)
  • Siblings may be affected but parents usually are apparently normal
  • Abnormal gene remains suppressed and does not manifest in a heterozygous individual.
    The affected person is homozygous for the trait.
A

Autosomal Recessive

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18
Q

The gene is located on the X chromosome, but the gene acts in a dominant manner.
This means that both males and females can display the trait or disorder, by only having one copy of the gene.

A

X-Linked Dominant

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19
Q

This are expressed in females only if there are two copies of recessive gene (one on each X chromosome).

A

X-linked recessive genes

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20
Q

Refers to inheritance of a phenotypic characteristic (trait) that is attributable to two or more genes and their interaction with the environment.

A

Polygenic inheritance/multifactorial inheritance/ quantitative inheritance

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21
Q

Abnormal changes in the number and structure of chromosomes.

A

Chromosomal mutations

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22
Q

Numerical changes are known as

A

Ploidy Changes

23
Q

Ploidy changes bring about abnormal alterations in the karyotype which causes serious _________.

A

Genetic Disorders

24
Q

Extrachromosomal sets

A

Polyploidy

25
Q

An extra or missing chromosome

A

Aneuploidy

26
Q

One chromosome absent

A

Monosomy

27
Q

One chromosome extra

A

Trisomy

28
Q

Part of a chromosome missing

A

Deletion

29
Q

Part of a chromosome present twice

A

Duplication

30
Q

Two chromosomes join long arms or exchange parts

A

Translocation

31
Q

Segment of chromosome reversed

A

Inversion

32
Q

A chromosome with identical arms

A

Isochromosome

33
Q

A chromosome forms a ring due to telomere deletions, which cause ends to adhere.

A

Ring Chromosome

34
Q

Condition in sex chromosome aneuploids in female

A

Turner Syndrome

35
Q

Who and when was it first reported Turner Syndrome?

A

Henry Turner in 1938

36
Q

Turner Syndrome is also called the _____

A

Ovarian Dysgenesis

37
Q

Abnormal female(sterile) condition

A

44A+X0

38
Q

Caused by sex chromosomal monosomy, absence of an X chromosome(XO Syndrome)

A

Turner Syndrome

39
Q

Turner’s Syndrome affects ___________ female births.

A

1 in 2,500

40
Q

Clinical Manifestations of Turner’s Syndrome

A

Short Stature
Webbing of Neck
Low Posterior Hairline
Broad Chest and widely spaced nipples
Contraction of the aorta
Cubitus Valgus
Pigmented Nevi
Streak Ovaries, Infertile, Amenorrhea
Peripheral Lymphedema at birth

41
Q

Cause of Turner’s Syndrome

A

Lack of Barr Body
Missing only part of an X chromosome

42
Q

At birth: (looks normal) Clinical Manifestations

A

Puffy hands
Impaired Lymphflow in feet

43
Q

At sexual maturity: Clinical Manifestations

A

sparse body hair develops
rudimentary / immature ovaries
very small uterus, normal cervix and vagina
intelligence is normal
turner neurocognitive phenotype
may cause memory deficits

44
Q

What can be done if a person has Turner’s Syndrome?

A

Hormones (Progesterone and Estrogen)

45
Q

Sex Chromosome Aneuploids: Male

A

Klinefelter’s Syndrome

46
Q

Klinefelter’s Syndrome due to an extra X chromosome (47, XXY) caused by

A

Chromosomal Trisomy

47
Q

What causes Klinefelter’s Syndrome?

A

Extra X chromosome (47, XXY) chromosomal trisomy

48
Q

Klinefelter’s Syndrome is first reported by and on?

A

Klinefelter in 1942

49
Q

Klinefelter’s Syndrome is observed in about ____________.

A

1 in 500 males

50
Q

Clinical Manifestations of Klinefelter’s Syndrome

A

Frontal baldness absent
Poor Bread Growth
Tendency to grow fever
Chest Hairs
Narrow Shoulders
Breast Development
Female-type pubic hair pattern
Wipe hips
Small testicular size
long arms and legs

51
Q

Symptoms of Klinefelter’s Syndrome

A

Immature testes and prostate glands
Sparse (thin and dispersed) pubic and facial hair
They have very long arms and legs, large hands and feet
may develop breast tissue( gynaecomastia)
genetic or chromosomal cause of male infertility.
Mental retardation in cases of more than 2 X chromosomes.
may be slow to learn

52
Q

What can be done if a person has Klinefelter’s Syndrome?

A

Testosterone injections during adolescence can limit limb lengthening and stimulate development of secondary sexual characteristics.

Men with XXY syndrome have fathered children, with medical assistance.

Doctors select sperm that contain only one sex chromosome and use the sperm to fertilize oocytes.

53
Q

A harmful change to a gene, also known as a pathogenic variant

A

Mutation

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