Reproductive Health and Newborn Nursing 13 Flashcards
Humans typically have 23 pairs of chromosomes in their cells, for a total of 46 chromosomes. Among these 23 pairs:
- 22 pairs are autosomes, which are non-sex chromosomes. These autosomes carry genes that are responsible for various traits and functions in the body.
- 1 pair consists of sex chromosomes, which determine an individual’s sex. In males, this pair consists of one X chromosome and one Y chromosome (XY), while in females, it consists of two X chromosomes (XX).
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A chromosome is a structure found in the nucleus of eukaryotic cells, including human cells, that carries genetic information in the form of genes. Here are the key points from your description:
- Package of Genes: Chromosomes are indeed packages of genes. Genes are segments of DNA that contain instructions for various biological functions and traits. Each chromosome contains many genes arranged along its length.
- Inheritance: Chromosomes play a critical role in inheritance. You inherit one set of chromosomes from each of your parents. These chromosomes contain the genetic information that determines your traits and characteristics. When you have children, you pass on a combination of your chromosomes to them.
- Pairs: Chromosomes come in pairs in most human cells because you inherit one chromosome from each parent for each corresponding chromosome in the pair. This pairing ensures that you have a mix of genetic material from both parents.
- Chromosome Number: Humans typically have 23 pairs of chromosomes, for a total of 46 chromosomes in most cells. This includes 22 pairs of autosomes (non-sex chromosomes) and 1 pair of sex chromosomes (X and Y in males, and two X chromosomes in females).
- Structure: Chromosomes have a distinctive structure with a centromere (a constriction point), two arms (short and long), and specific banding patterns when stained and viewed under a microscope. These banding patterns help identify and distinguish different chromosomes.
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Located in the nucleus of our cells are chromosomes.
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Chromosomes are made up of DNA
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Genes are portions of DNA.
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Genetic Terminology:
- Genotype refers to the genetic makeup of an individual when discussing a specific gene pair, but it can also be used to refer to an individual’s entire genetic makeup.
- Phenotype represents the observable expression of an individual’s genotype, including physical features, biochemical or molecular traits, or psychological traits.
- Dominant traits are expressed or phenotypically apparent when only one copy of an allele is associated with the trait.
- Recessive traits are expressed only when two copies of the alleles associated with the trait are present.
Karyotype
Chromosomal Analysis for Paternity Testing:
- This type of analysis involves the visual examination and assessment of the number, form, and size of an individual’s chromosomes. It is commonly used in paternity tests to establish biological relationships.
- The analysis typically utilizes white blood cells or fetal cells obtained from amniotic fluid samples.
- Chromosomes are numbered from largest to smallest, designated as 1 to 22, with sex chromosomes indicated as X and Y. This numbering system allows for the identification and comparison of specific chromosomal patterns to determine paternity.
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Chromosomal Abnormalities
Chromosomal Abnormalities may be
Inherited (e.g., sickle cell, cystic fibrosis, etc.)
Spontaneous (occurs spontaneously at the time of conception)
Acquired Chromosomal Abnormalities (Environmental): These abnormalities are not related to external environmental factors but rather to changes that occur within the developing fetus’s environment. These changes can be caused by various factors, including exposure to certain substances or infections during pregnancy, which can lead to chromosomal abnormalities in the developing fetus.
Chromosomal Abnormalities 2
Types of Chromosomal Abnormalities:
Abnormalities of Chromosome Number:
- Monosomies: When an individual has only one copy of a particular chromosome instead of the usual two.
- Trisomies: When an individual has an extra copy of a particular chromosome, resulting in three copies instead of the usual two.
- Polyploidy: Involves having multiple sets of chromosomes, which can lead to various abnormalities in the number of chromosomes.
Abnormalities of Chromosome Structure:
- Deletions: Occur when a portion of a chromosome is missing or deleted, leading to insufficient genetic material.
- Inversions: Involve the reversal or flipping of a segment of a chromosome, changing its orientation.
- Translocations: Occur when a segment of a chromosome breaks off and attaches to another chromosome or a different part of the same chromosome.
Sex Chromosome Abnormalities:
- These abnormalities affect the sex chromosomes (X and Y) and can result in ambiguous gender at birth, making it challenging to determine if an individual is male or female.
- For example, an infant may have swollen labia and an enlarged clitoris, resembling a misshapen penis. In some cases, determining the true gender may require waiting until the child can express their gender identity.
Chromosome Abnormality:Number
Deviations in Chromosomal Abnormalities:
- Polyploidy: In this type of deviation, the number of chromosomes is an exact multiple of the haploid number, which means it has more than the usual diploid set of chromosomes (one set from each parent). Polyploidy is typically incompatible with life, and it involves having multiple complete sets of chromosomes.
- Aneuploidy: Aneuploidy is a deviation where the number of chromosomes is not an exact multiple of the haploid set. This can result in either monosomies (having one less chromosome) or trisomies (having one extra chromosome). Trisomies are the most common form of aneuploidy, where there are three copies of a particular chromosome instead of the usual two.
Chromosome Abnormality:Number
Incidence of Trisomy 21 (Down Syndrome):
- The incidence of trisomy 21, where the 21st chromosome has 3 chromosomes instead of 2, varies depending on the stage of pregnancy and the outcome:
- At Birth: The incidence of trisomy 21 in newborns is relatively low, at approximately 0.6%.
- Stillbirths (Greater than 20 Weeks): Trisomy 21 is observed in about 6% of stillbirths that occur after 20 weeks of gestation.
- Spontaneous Abortions (Less than 20 Weeks): Trisomy 21 is much more common in cases of spontaneous abortions that occur before 20 weeks of gestation, with an incidence ranging from 60% to 80%.
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Down syndrom increases with age because teh chromosomes as well as the eggs deteriorate and they are less accurate as they get older. This starts at age 35
Characteristics of a Child with Trisomy 21 (Down Syndrome):
Physical and Developmental Features:
- Growth failure, often resulting in shorter stature.
- Intellectual and developmental challenges, commonly categorized as mild to moderate mental retardation.
- A flat back of the head.
- Distinctive facial features, such as abnormal ears, a broad flat face, slanting eyes, and an epicanthic eyefold.
- A short nose and a small, arched palate.
- Short and broad hands with a single palmar crease.
- Many “loops” or dermatoglyphic ridges on the fingertips.
- A big, wrinkled tongue.
- Dental anomalies.
- Congenital heart disease.
- Enlarged colon.
Other Physical Characteristics:
- Unilateral or bilateral absence of one rib.
- Intestinal blockage.
- Umbilical hernia.
- Abnormal pelvis.
- Diminished muscle tone.
- Big toes that are widely spaced.
Chromosomal Abnormality:Structure
Translocation in Chromosomes:
- Translocation is a genetic phenomenon involving the exchange of chromosomal material between two non-homologous chromosomes (chromosomes that are not the same in terms of size or genetic content).
- Translocations can occur in any chromosome, and there are two main types:
- Balanced Translocation: In this type, genes are rearranged between chromosomes, but no genetic material is added or lost. Individuals with balanced translocations typically do not show any physical abnormalities because all genetic material is still present.
- Unbalanced Translocation: In this type, genetic material is either added or subtracted during the translocation process. Unbalanced translocations can result in genetic disorders and physical abnormalities because the amount of genetic material is not correct.
- The causes of translocations can be varied and may include exposure to certain drugs, viruses, or radiation. However, in many cases, the exact cause of a translocation may not be apparent, and it can occur spontaneously during cell division or meiosis.
Chromosomal Abnormality:Structure
Phenotypically normal individuals often have balanced translocations, meaning that they carry rearranged genetic material between chromosomes, but outwardly, they do not exhibit any noticeable physical abnormalities or differences. The reason for their normal appearance is that despite the rearrangement of genetic material, all the essential genes and genetic content are still present and functioning properly.
In these cases, the changes in the genetic material are subtle and typically do not result in any observable effects on the individual’s physical appearance or health. However, it’s essential to note that even though these individuals may appear normal, they can still potentially pass on the balanced translocation to their offspring, which could lead to unbalanced translocations and associated genetic disorders in the next generation.
Genotypically and phenotypically abnormal.
- Genotypically Abnormal: This means there is an imbalance in the genetic material because some genetic material is either missing or extra. This can lead to problems with the individual’s overall genetic makeup.
- Phenotypically Abnormal: The phenotype refers to the physical and observable characteristics of an individual, such as appearance, health, and developmental status. When unbalanced translocations disrupt the normal genetic balance, it can result in physical abnormalities and developmental issues. These can include intellectual disabilities, birth defects, and other health problems, depending on which genes are affected and the extent of the imbalance.
So, unbalanced translocations can indeed lead to significant developmental and health challenges for individuals who have them. The specific effects can vary widely depending on the particular genes involved and the severity of the imbalance.
Autosomal Dominant Inheritance
- Only one copy of the dominant variant allele is required for phenotypic expression.
- When heterozygous, there is a 50% chance of passing the variant allele on to offspring.
- Vertical transmission.
Autosomal Recessive Inheritance
Just look at the punnet square for sickle cell
- Phenotypic expression requires two carriers of the variant allele, specifically, one from each parent (mom and dad).
- Neither of the parents expresses the genetic mutation, but both are carriers.
- Both parents must be heterozygous carriers of the variant allele.
- The offspring have a 25% chance of being affected, a 50% chance of being carriers, and a 25% chance of being unaffected.
- This type of transmission is referred to as “Horizontal Transmission.”
Punnett Square Learn how it works
Autosomal Dominant
Huntington’s Disease
H=affected
h=unaffected
Punnett Square 2 Learn how it works on test
Autosomal Recessive
ss=Sickle Cell Anemia
SS=unaffected
Ss= carrier
- X-linked inheritance mimics autosomal dominant inheritance but lacks male-to-male transmission due to the fact that males do not pass on an X chromosome to another male; instead, they pass on a Y chromosome.
in X-linked inheritance, males can’t pass the trait to other males because they give their sons a Y chromosome instead of an X. Since the trait is carried on the X chromosome, only females can pass it to both their sons and daughters because they have two X chromosomes (XX), while males have one X and one Y chromosome (XY). This means that if a father has the X-linked trait, he can only pass it on to his daughters, not his sons, because sons get their Y chromosome from their fathers. So, there’s no male-to-male transmission of the trait in X-linked inheritance.
- X-linked recessive inheritance is characterized by the presence of a recessive gene on the X chromosome (X-linked) and is typically considered “weaker” because males have only one X chromosome (XY).
- Most X-linked recessive conditions are passed from a carrier mother to her male offspring.
- Females can also inherit X-linked recessive conditions but are less commonly affected compared to males.
X-linked recessive inheritance is when a certain gene is located on the X chromosome (one of the two types of sex chromosomes) and follows a particular pattern.
In this pattern, the gene is “weaker” or less noticeable because males have only one X chromosome and one Y chromosome (XY), while females have two X chromosomes (XX).
When a mother carries this recessive gene but doesn’t show any signs of the condition herself (she’s a carrier), she can pass it on to her sons. This means her sons have a higher chance of inheriting the condition.
Females can also inherit this gene, but they are less likely to show the condition because they have two X chromosomes, and the presence of a healthy X chromosome can often compensate for the recessive gene on the other X chromosome. So, they are carriers too, but the condition is less common in them compared to males.