CH 19: Genetic and Developmental Diseases and Disorders: Human Diseases 4th edition
s. Genetic disorders are passed to offspring in four ways:
(1) autosomal dominant, (2) autosomal recessive, (3) sex-linked dominant, or (4) sexlinked recessive.
The nucleus of each cell of the normal body has _____chromosomes or _____ pairs of chromosomes.
46 or 23
____________ is an opening between the right and left atria commonly due to the foramen ovale not closing at birth. Atrial septal defects allow oxygenated blood to be pumped from the left atria to the right atria. This repumping causes an increased workload on the right side of the heart.
Atrial septal defect
_____________________, is a severe type of developmental disorder characterized by a preoccupation with inner thoughts, daydreams, fantasies, and delusions. The cause of autism is unknown, although there may be a physical cause. Treatment is varied but behavioural therapy is always employed.
Autism, also called autistic disorder
______________is a congenital bilateral paralysis that results from inadequate blood or oxygen supply to the brain during fetal development, the birthing process, or infancy. The disorder usually affects motor, or muscle, performance. It is the most common crippler of children. It is characterized by hyperactive reflexes, rapid muscle contraction, and weakness
Cerebral palsy
__________ and _________consists of one or more splits in the upper lip and palate. This anomaly leads to difficulty in feeding and, if not repaired, in speaking. Several surgeries may be necessary to completely correct the condition
Cleft lip and palate
________________ is a stricture or narrowing that causes high blood pressure proximal to the stricture and lower blood pressure distal to the stricture. This increases the heart's workload.
Coarctation of the aorta
________________ (CHD) is an abnormality of the hip joint resulting in the femoral head slipping out of the normal position. It is usually obvious in the first few months of life
Congenital hip dislocation
____________________ is the transmission of the rubella virus across the placenta to the fetus. This may cause spontaneous abortion or an infant with birth defects. Prevention includes immunization against rubella.
Congenital rubella syndrome
_________________is an abnormal congenital opening of the male urinary meatus under the surface of the penis.
Hypospadias
____________ genes are expressed with a capital letter and ___________ genes are expressed with a small letter
Dominant and recessive
The most common autosomal chromosomal disorder is ________
Down syndrome
________________ (Trisomy 21) is the condition of having 3 chromosomes instead of the normal 2 in the 21st position of the chromosome chain.
Down syndrome
______________________include mild to severe intellectual disability, abnormal facial features (flat nasal bridge, low-set ears, slanted eyes with epicanthus, and thick tongue), abnormally short extremities, and organ defects. Down syndrome is the most common cause of genetic intellectual disability.
Down syndrome
The most common type of muscular dystrophy is_____________________. It is a sex-linked disorder passed from mother to son
Duchenne's MD
______________________ is an abnormal opening of the meatus on top of the penis
Epispadias
________ (sex cells) also have 46 chromosomes, but reproduce differently.
Germ cells
______________is caused by the absence of nerves in a segment of the colon. Without nerves, the affected segment lacks peristalsis, causing massive distention of the colon with feces. Treatment is surgical removal of the affected segment
Hirschsprung's disease
__________________ is an abnormal accumulation of cerebrospinal fluid in the brain. It is usually caused by obstruction of the flow of cerebrospinal fluid due to congenital defect, infection, or tumors. The head of the affected child enlarges as the fluid accumulates. This causes abnormal development and intellectual disability.
Hydrocephalus
____________ is caused by a chromosomal disorder in which affected males have an extra X chromosome (XXY), rather than the normal XY
Klinefelter's syndrome
The affected muscles are unable to store protein, so the muscle fibers die and are replaced by fat and connective tissue. Over time, the muscle goes from weak to useless.
MD
an outpouching of the ileum
Meckel's diverticulum
Developmental malformations include;
Meckel's diverticulum, esophageal atresia, congenital diaphragmatic hernia, imperforate anus
______________________is a group of genetically inherited diseases characterized by degeneration or weakening of the muscles.
Muscular dystrophy (MD)
CHD Diagnosis is confirmed by physical examination, a positive ___________and x-ray
Ortolani's sign,
______________________________ is an inherited condition characterized by abnormally brittle bones, leading to frequent fractures. There is no cure for the disorder, but the tendency to fracture decreases with age
Osteogenesis imperfecta
___________________ is a connection between the pulmonary artery and the aorta of the normal fetal heart that should close at birth. In this condition, oxygenated blood is shunted from the aorta back to the pulmonary artery
Patent ductus arteriosus
____________________is a recessive genetic disorder leading to faulty metabolism of the protein phenylalanine, which builds up in the blood and becomes present in the urine. It is toxic to the brain cells and causes intellectual disability. Diagnosis is made by mandatory PKU testing at birth
Phenylketonuria (PKU)
_____________ is a narrowing of the outlet of the lower end of the stomach. It is caused by a thickening of the pyloric sphincter. This slows the emptying of the stomach and may cause vomiting
Pyloric stenosis
Genetic and developmental disorders may first appear or be diagnosed at
any age
commonly due to the foramen ovale not closing at birth
atrial septal defect
_____________ is a congenital disorder in which one or more of the vertebra of the spinal column fails to close over the spinal cord, leaving an opening
Spina bifida
In disorders such as___________________genetic testing can inform an individual if he/she is a carrier of the disease.
Tay-Sachs disease,
_______________________________ an autosomal recessive disorder of lipid metabolism
Tay-Sachs disease,
_________________________ is a combination of four defects including pulmonary valve stenosis, right ventricle hypertrophy, ventricle septal defect, and abnormal placement of the aorta. Unoxygenated blood from the right ventricle passes to the left ventricle and circulates to the body. The resulting cyanosis increases with age and activit
Tetralogy of Fallot
_____________is caused by a chromosomal disorder. Affected females have only one X chromosome, rather than the normal XX.
Turner's syndrome
_______________________is the most common solid tumor affecting children and infants. It may be present at birth, but symptoms do not usually appear until age 2 to 4. It is a highly malignant tumor of the kidney. Treatment may involve surgery and chemotherapy.
Wilms' tumor
Chromosomes are made of ultramicroscpoic units of ____________(DNA) arranged in a specific order. Each ultramicroscopic unit is called a gene.
deoxyribonucleic acid
congenital diaphragmatic hernia,
a congenital hole in the diaphragm;
imperforate anus
a failure of the anus to connect to the rectum.
anencephaly,
a severe congenital malformation resulting in the absence of the brain
__________________a rare genetic disorder characterized by abnormal development of the epiphyseal cartilage, resulting in decreased growth of long bone
achondroplasia,
genes aligned on a chromosome, a pair
alleles
Meckel's diverticulum,
an outpouching of the ileum
chromosomes determining body function
autosomes
obtaining squamous cells from the buccal cavity to evaluate sex chromosomes
buccal smear
There are two ways an individual acquires an abnormal gene: (1) or (2)
by mutation of the gene during meiosis, affecting the newly formed fetus, by passing the abnormal gene from the parents.
a congenital bilateral paralysis
cerebral palsy
affected child has a characteristic "scissors gait"
cerebral palsy
results from inadequate blood or oxygen supply during fetal development, birth, or infancy
cerebral palsy
the most common crippler of children
cerebral palsy
a narrowing of the descending or thoracic aorta
coarctation of aorta
birth defect
congenital abnormality
abnormality of the hip joint, or acetabulum
congenital hip dislocation
a hole in the diaphragm
diaphragmatic hernia
the gene in control
dominant
absence or closure of a normal opening of the esophagus
esophageal atresia
ultramicroscopic unit of deoxyribonucleic acid
gene
genetic pattern of the individual
genotype
sex cells
germ cells
The _____________ and its related great vessels are the most common sites of congenital defects
heart
an x-linked hereditary bleeding disorder passed from a carrier mother to a son
hemophilia
a matched pair of genes
homozygous
an abnormal accumulation of cerebrospinal fluid in the brain
hydrocephalus
treatment of choice is shunt placement
hydrocephalus
Genetic and developmental neurologic disorders are some of the most severe because of their long-term debilitating effects. Two of the most common disorders in this category are
hydrocephalus and cerebral palsy.
failure of the anus to connect to the rectum
imperforate anus
Chromosomes can be visualized by the process known as ______________. This involves taking a picture of a cell during mitosis, arranging the pairs in order from largest to smallest, and numbering them
karyotyping
visualizing and arranging chromosome pairs in order from largest to smallest
karyotyping
By the process of _________,germ cells reproduce cells that have onlyhalf, or 23 chromosomes
meiosis
reproduction of sex cells
meiosis
meningocele,
meningocele, where the meninges of the cord protrude through the opening, forming a fluid-filled sac on the skin
Cells reproduce through the process of_________where they duplicate, producing identical offspring
mitosis
reproduction of autosomes
mitosis
characterized by degeneration of the muscles
muscular dystrophy
commonly a sex-linked disorder passed from imperfecta mother to son
muscular dystrophy
life expectancy is late teens to early twenties
muscular dystrophy
most common type is Duchenne's
muscular dystrophy
affected children may be suspected victims of child abuse
osteogenesis
characterized by abnormally brittle bones
osteogenesis
significant sign is a blue coloration of the sclera
osteogenesis
oxygenated blood shunts abnormally from the aorta back to pulmonary artery
patent ducts arteriosus
expression of a trait such as brown hair
phenotype
Treatment for Cerebral Palsy Treatment involves
physical and speech therapy, orthopedic support, and, at times, surgery. Anticonvulsant medication may also be used.
the gene lacking control
recessive
a chronic hereditary form of anemia found predominately in black individuals
sickle cell anemia
body cells
somatic cells
an abnormal opening in the spinal column
spina bifida
most serious type is myelomeningocele
spina bifida
The three types OF SPINA BIFIDA include:
spina bifida occulta, meningocele, myelomeningocele,
Treatment for Hydrocephalus requires
surgically placing a shunt from the brain to the peritoneal cavity or right atrium of the heart to drain the excessive fluid.
Clubfoot, or_______________, is a congenital abnormality of the foot. The affected foot or feet turn inward, with the toes pointed down and the heel drawn up. Treatment may involve manipulation or application of a cast or splint
talipes equinovarus
frequently occurring deformity of the foot
talipes equinovarus
treatment may involve multiple casting
talipes equinovarus
a combination of four heart defects
tetralogy of Fallot
esophageal atresia
the absence or abnormal closure of part of the esophagus;
myelomeningocele
the most serious form where the meninges and a portion of the cord protrude through the opening
A _____________________, the most common heart defect, is a hole between the right and left ventricle that allows blood from the left ventricle to flow into the right ventricle. As with atrial septal defect, this oxygenated blood is recirculated to the lungs, causing an increased workload on the heart.
ventral septal defect
the most common heart defect
ventricular septal defect
spina bifida occulta,
which is asymptomatic and is the most common type;
