Chapter 21 - Congenital and Genetic Disorders / Chapter 22 - Complications of Pregnancy

Question 1

karyotype

Answer 1

An individual’s collection of chromosomes. The term also refers to a laboratory technique that produces an image of an individual’s chromosomes. The karyotype is used to look for abnormal numbers or structures of chromosomes.

Question 2

Marfan syndrome

Answer 2

Marfan syndrome is an inherited disorder that affects connective tissue — the fibers that support and anchor your organs and other structures in your body. Marfan syndrome most commonly affects the heart, eyes, blood vessels and skeleton.

People with Marfan syndrome are usually tall and thin with unusually long arms, legs, fingers and toes. The damage caused by Marfan syndrome can be mild or severe. If your aorta — the large blood vessel that carries blood from your heart to the rest of your body — is affected, the condition can become life-threatening.

Question 3

zygosity
(allele)
(homozygous, heterozygous, hemizygous, nullizygous)

Answer 3

The degree to which both copies of a chromosome or gene have the same genetic sequence. In other words, it is the degree of similarity of the alleles in an organism.

The DNA sequence of a gene often varies from one individual to another. Those variations are called alleles. While some genes have only one allele because there is low variation, others have only one allele because deviation from that allele can be harmful or fatal. But most genes have two or more alleles. The frequency of different alleles varies throughout the population. Some genes may have alleles with equal distributions. Often, the different variations in the alleles do not affect the normal functioning of the organism at all. For some genes, one allele may be common, and another allele may be rare. Sometimes, one allele is a disease-causing variation while another allele is healthy.

A cell is said to be homozygous for a particular gene when identical alleles of the gene are present on both homologous chromosomes. Heterozygous therefore refers to the condition when the alleles of a particular gene in the homologous chromosomes are different. If one allele is missing, it is hemizygous, and, if both alleles are missing, it is nullizygous.

Question 4

homologous chromosomes

Answer 4

A couple of homologous chromosomes, or homologs, are a set of one maternal and one paternal chromosome that pair up with each other inside a cell during fertilization.

(Do not confuse with homoeologous.)
(Remember: homologous means “derived from or developed in response to organisms of the same species”)

Question 5

homoeologous

Answer 5

Of similar genetic constitution—used of chromosomes believed to have been completely homologous in an ancestral form, although they presently belong to different species.

(In other words, one species in the distant past evolved into two separate species in the present, with similar chromosomes.)

Question 6

What are the two types of chromosomes?

Answer 6

1. Sex chromosomes, which determine male or female gender.

2. Autosomes, which are all of the other chromosomes

Question 7

autosomal

Answer 7

of, belonging to, located on, or transmitted by an autosome

Question 8

autosomal recessive inheritance

Answer 8

One of the ways a genetic trait or a genetic condition can be inherited. In autosomal recessive inheritance, a genetic condition occurs when one variant is present on both alleles (copies) of a given gene.

Question 9

autosomal dominant inheritance

Answer 9

One of the ways a genetic trait or a genetic condition can be inherited. In autosomal dominant inheritance, a genetic condition occurs when a variant is present in only one allele (copy) of a given gene.

Question 10

X and Y chromosomes

Answer 10

The X and Y chromosomes, also known as the sex chromosomes, determine the biological sex of an individual: females inherit an X chromosome from the father for a XX genotype, while males inherit a Y chromosome from the father for a XY genotype (mothers only pass on X chromosomes).

The presence or absence of the Y chromosome is critical because it contains the genes necessary to override the biological default - female development - and cause the development of the male reproductive system.

Ova all have X chromosomes. Half of the sperm have Y chromosomes and the other half have X chromosomes. Girls have two X chromosomes. If a sperm with an X chromosome fertilizes the ovum, the fetus will be female. Boys have an X and a Y chromosome. If a sperm with a Y chromosome fertilizes the ovum, the fetus will be male.

males = XY
females = XX

Question 11

multifactorial disorders

Answer 11

Multifactorial disorders involve a number of genes or genetic influences combined with environmental factors.

Some common multifactorial disorders include schizophrenia, diabetes, asthma, depression, high blood pressure, Alzheimer’s, and obesity.

Question 12

hydrocephalus

Answer 12

Hydrocephalus is the buildup of fluid in the cavities (ventricles) deep within the brain. The excess fluid increases the size of the ventricles and puts pressure on the brain.

Cerebrospinal fluid normally flows through the ventricles and bathes the brain and spinal column. But the pressure of too much cerebrospinal fluid associated with hydrocephalus can damage brain tissues and cause a range of brain function problems.

Hydrocephalus can happen at any age, but it occurs more frequently among infants and adults 60 and over.

Question 13

amniocentesis

Answer 13

a procedure used to take out a small sample of the amniotic fluid in a pregnant woman for testing

Question 14

X-linked diseases

Answer 14

Also called X-linked disorders
X-linked is a trait where a gene is located on the X chromosome. In an X-linked disease, it is usually males that are affected because they have a single copy of the X chromosome that carries the mutation. In females, the effect of the mutation may be masked by the second healthy copy of the X chromosome.

There are two types of X-linked diseases: X-linked dominant and X-linked recessive.

In X-linked dominant, a single copy of the mutation is enough to cause the disease in both males (who have one X chromosome) and females (who have two X chromosomes).

In X-linked recessive, a male carrying such a mutation will be affected, because he carries only one X chromosome. A female carrying a mutation in one gene, with a normal gene on the other X chromosome, is generally unaffected.

Question 15

Down syndrome

Answer 15

Down syndrome is a condition in which a person has an extra chromosome. Chromosomes are small “packages” of genes in the body. They determine how a baby’s body forms and functions as it grows during pregnancy and after birth. Typically, a baby is born with 46 chromosomes. Babies with Down syndrome have an extra copy of one of these chromosomes, chromosome 21.

A medical term for having an extra copy of a chromosome is ‘trisomy.’ Down syndrome is also referred to as Trisomy 21. This extra copy changes how the baby’s body and brain develop, which can cause both mental and physical challenges for the baby.

Down syndrome causes a distinct facial appearance, intellectual disability, developmental delays, and may be associated with thyroid or heart disease.

Question 16

retinoblastoma

Answer 16

Retinoblastoma is a disease in which malignant (cancer) cells form in the tissues of the retina. Retinoblastoma occurs in heritable and nonheritable forms.

Question 17

internal os vs. external os vs. ectocervix (parts of the cervix)

Answer 17

(from the perspective of the cervix) The opening into the uterus is called the internal os, and the opening into the vagina is called the external os.

The lower part of the cervix, known as the vaginal portion of the cervix (or ectocervix), bulges into the top of the vagina.

Question 18

HCG (Human Chorionic Gonadotropin)

Answer 18

Often called the pregnancy hormone because it is made by cells formed in the placenta, which nourishes the egg after it has been fertilized and becomes attached to the uterine wall.

The hormone stimulates the corpus luteum to produce progesterone to maintain the pregnancy. Home pregnancy tests work by testing for its presence to verify pregnancy status.

Question 19

progesterone

Answer 19

an endogenous steroid and progestogen sex hormone involved in the menstrual cycle, pregnancy, and embryogenesis of humans and other species

Question 20

embryogenesis

Answer 20

the process of initiation and development of an embryo

Question 21

progestogens

Answer 21

Also sometimes written progestagens or gestagens, are a class of steroid hormones that bind to and activate the progesterone receptor (PR).

Progesterone is the major and most important progestogen in the body.

The progestogens are named for their function in maintaining pregnancy (i.e., progestational), although they are also present at other phases of the estrous and menstrual cycles.

Question 22

progestational

Answer 22

1. Preceding pregnancy or gestation
2. Describing the phase of the menstrual cycle before gestation and after ovulation, during which progesterone is secreted.
3. Of or pertaining to progesterone or similar to progesterone.
4. Encouraging or conducive to gestation (said of hormone levels, for example).

Question 23

pregnancy vs gestation

Answer 23

Pregnancy is counted from the first day of the woman’s last period, not the date of conception which generally occurs two weeks later.

Gestation is from the date of conception.

Both are very similar concepts.

Question 24

corpeus luteum

Answer 24

A yellow hormone-secreting body in the female reproductive system. It is formed in an ovary at the site of a follicle, or sac, that has matured and released its ovum, or egg, in the process known as ovulation.

The corpus luteum is made up of lutein cells (from the Latin luteus, meaning “saffron-yellow”, because the lutein cells are yellow cells that contain lipid droplets), which develop immediately following ovulation, when yellow pigment and lipids accumulate within the granulosa cells lining the follicle. The size of the corpus luteum is highly variable.

The corpus luteum secretes estrogens and progesterone. The latter hormone causes changes in the uterus that make it more suitable for implantation of the fertilized ovum and the nourishment of the embryo. If the egg is not fertilized, the corpus luteum becomes inactive after 10–14 days, and menstruation occurs.

Question 25

sex hormone

Answer 25

a steroid hormone (such as estrogen or testosterone) that is produced especially by the ovaries, testes, or adrenal cortex and affects the growth or function of the reproductive organs or the development of secondary sex characteristics

Question 26

inner cell mass (ICM)

Answer 26

The inner cell mass (also known as the embryoblast or pluriblast) is the mass of cells inside the primordial embryo that will eventually give rise to the definitive structures of the fetus. This structure forms in the earliest steps of development, before implantation into the endometrium of the uterus has occurred.

Question 27

primordial

Answer 27

1. first created or developed
2. existing in or persisting from the beginning (as of a solar system or universe)
3. earliest formed in the growth of an individual or organ
4. fundamental, primary

Question 28

primeval

Answer 28

of or relating to the earliest ages (as of the world or human history)

Question 29

thrombophlebitis

Answer 29

A condition in which a blood clot in a vein causes inflammation and pain.

Question 30

thromboembolism

Answer 30

obstruction of a blood vessel by a blood clot that has become dislodged from another site in the circulation

Question 31

disseminated intravascular coagulation (DIC)

Answer 31

Disseminated intravascular coagulation (DIC) is a rare but serious condition that causes abnormal blood clotting throughout the body’s blood vessels. It is caused by another disease or condition, such as an infection or injury, that makes the body’s normal blood clotting process become overactive.

Question 32

Rhesus (Rh) factor incompatibility

Answer 32

Rh incompatibility occurs when a woman who is Rh-negative becomes pregnant with a baby with Rh-positive blood. With Rh incompatibility, the woman’s immune system reacts and creates Rh antibodies. These antibodies help drive an immune system attack against the baby, which the mother’s body views as a foreign object.

Question 33

kernicterus

Answer 33

a type of brain damage that can result from high levels of bilirubin in a baby’s blood

Question 34

puerperal infection

Answer 34

A puerperal infection occurs when bacteria infect the uterus and surrounding areas after a woman gives birth. It’s also known as a postpartum infection.

Question 35

puerperal

Answer 35

during or relating to the period of about six weeks after childbirth during which the mother’s reproductive organs return to their original nonpregnant condition

Question 36

prepartum vs postpartum

Answer 36

prepartum: before giving birth; prenatal
postpartum: after giving birth; postnatal

(partum comes from the Latin word partus: “act of giving birth, childbirth”

Question 37

dysmenorrhea

Answer 37

painful menstruation, typically involving abdominal cramps

Question 38

cramp

Answer 38

a sudden, involuntary muscle contraction or overshortening; while generally temporary and non-damaging, they can cause significant pain and a paralysis-like immobility of the affected muscle

Question 39

hyperemesis gravidarum

Answer 39

the medical term for severe nausea and vomiting during pregnancy

Question 40

pre-eclampsia

Answer 40

Also called: toxemia or pregnancy-induced hypertension (PIH)

A potentially dangerous pregnancy complication characterized by high blood pressure. It occurs in about 7 to 10 percent of all pregnancies.

Pre-eclampsia usually begins after 20 weeks of pregnancy in a woman whose blood pressure had been normal. It can lead to serious, even fatal, complications for both mother and baby.

There may be no symptoms. High blood pressure and protein in the urine are key features.

Question 41

estrus (noun)

estrous (adjective)

Answer 41

a regularly recurrent state of sexual receptivity during which the female of most mammals will accept the male and is capable of conceiving