Outcome 6 Neonatology Flashcards Preview

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Flashcards in Outcome 6 Neonatology Deck (266):
1

5 areas of Apgar score

1. appearance: color
2. pulse: heart rate
3. grimace: response to stimuli
4. activity: muscle tone
5. respiration: respiration rate

2

The Apgar score is measured at ___ minute after birth and again at ___ minutes, and the total possible score is ___.

1, 5, 10

3

The Moro Reflex is also called the _____

startle reflex

4

In the Moro Reflex, a change in _____ causes extension and abduction of the extremities and fanning of the ____, followed by flexion and adduction of the extremities.

equilibrium, fingers

5

The Dance Reflex is also called the _____.

stepping reflex

6

The Sucking Reflex causes a newborn to ___ anything that touches the lips.

suck

7

The Rooting Reflex occurs when the cheek is touched or stroked along the side of the mouth, and the newborn turns its head toward the _____ and begin to suck.

stimulated side

8

The Palmar Grasp Reflex is flexion of the fingers caused by stimulation of the ______.

palm of the hand.

9

The Plantar Grasp Reflex is flexion of the toes when the ____ is gently stroked.

sole of the foot

10

The Crossed Extension Reflex is the adduction and extension of one leg when the _____ is stimulated. You

foot of the other leg

11

The Crawling Reflex is also called the _____.

symmetric tonic neck reflex

12

The Tonic Neck Reflex is also called the _____.

asymmetric tonic neck reflex

13

This reflex prevents the infant from rolling over until adequate ____ and ____ occurs.

neurologic and motor development

14

The Neck Righting Reflex occurs where turning the head to one side while the infant is in a ____ position causes rotation of the shoulders and trunk in the ____ direction.

supine, same

15

The Landau Reflex is that when the infant is held in a ____ position, it maintains a ____ with the head raised and the legs slightly flexed.

horizontal prone, convex arc

16

The Parachute Reaction is a variation of the ____, and persists for ___.

Moro reflex, life

17

In the Parachute Reaction, if ____ is normal, when the infant is dropped a short distance onto a soft surface, it will ____ the arms, hands and fingers on both sides of the body in a protective movement.

motor nerve development, extend

18

Birth before ___ weeks is considered premature

37

19

Infant Respiratory Distress Syndrome (IRDS) is also called _____

Hyaline Membrane Disease

20

Acute hypoxemia caused by infiltrates within the alveoli

IRDS

21

Inability of lungs to expand; there is inadequate surface area for proper gas exchange

IRDS

22

Tests involved in IRDS

1. blood gas studies
2. radiographic chest films

23

In IRDS, blood gas studies show reduced ____ and ineffective ____

oxygen tension; gas exchange

24

In IRDS, radiographic chest films show presence of ____ or ____

infiltrate or hyaline membrane

25

IRDS: acute ____ caused by _____ within the ____

hypoxemia, infiltrates, alveoli

26

IRDS: inability of ___ to expand; inadequate ____ for proper ___

lungs, surface area, gas exchange

27

In IRDS, lungs lack ____ needed to allow alveoli to expand

surfactant

28

Surfactant is normally produced in late ____

fetal life

29

In IRDS, treatment should begin within the first __ hours of life

48

30

3 options for IRDS treatment:

1. carefully titrated supplemental oxygen through mechanical ventilation
2. positive end-expiratory pressure (PEEP)
3. drug therapy

31

In IRDS drug therapy, aerosol infusion of an exogenous surfactant such as ____ or ___ into the pulmonary tree by endotracheal tube

beractant or poractant

32

Serious chronic lung disease where lungs are stiff, obstructed and hard to ventilate

bronchopulmonary dysplasia (BPD)

33

What are the two tests to diagnose BPD?

1. radiographs
2. arterial blood gases

34

In BPD, radiographs show alveolar damage with a ____ appearance

ground glass

35

In BPD, arterial blood gas tests show low ____ levels and high ____ levels

oxygen, carbon dioxide

36

In BPD, wet or crackling sounds are heard on ____ of the lungs

auscultation

37

BPD is caused by an insult to the neonate's ___

lungs

38

BPD is often a sequela to which 4 disorders?

1. IRDS
2. lung infections
3. pneumonia
4. extreme prematurity

39

What is the goal of treatment for BPD?

replace damaged alveoli

40

In BPD, supplemental oxygen O2 saturation must be at __% or greater

90

41

What family of medicine is used to treat BPD

diuretics

42

Diuretics reduce ____ HTN, ____ heart failure, and fluid ____ in the lungs

pulmonary, right sided heart failure, fluid accumulation

43

Abnormal growth of the blood vessels in the retinas of infant eyes

retinopathy of prematurity (ROP)

44

ROP usually occurs in premature infants because retinal blood vessels don't develop until the __th week of gestation

28th week

45

Retinopathy of prematurity or ROP is also called ____

retrolental fibroplasia

46

ROP can be caused by which four things?

1. incomplete vascularization in premature infants
2. high supplemental oxygen concentrations
3. drugs: surfactant and indomethacin
4. intense artificial lighting-

47

T or F. Mild forms of ROP resolve without treatment

T

48

In serious cases, ROP is treated with laser treatment anterior to the vascular shunt, eliminating abnormal vessels before they cause _____

retinal detachment

49

Acute inflammatory process of the fragile intestinal tract in premature or sick newborns

necrotizing enterocolitis (NEC)

50

NEC is caused by _____ of the mucosal lining of the small and/or large intestine

ischemic necrosis

51

NEC is caused by breakdown in normal defense systems of the GI tract; ____ invades ____

normal flora, intestinal mucosa

52

Risk factors for NEC include:

1. prematurity
2. hypovolemia
3. sepsis
4. umbilical catheters
5. exchange transfusions

53

When a neonate is diagnosed with NEC, he or she must be ordered ___ where fluids and antibiotics are administered intravenously

NPO

54

NEC is treated by surgical intervention with removal of ____

necrotic tissue

55

Two surgical procedures for NEC

1. ileostomy
2. colostomy

56

In NEC, a small tube is inserted into the stomach through the nose or mouth for ____

decompression

57

Condition of small stature and related incidence of interorbital distance, bulging forehead, depressed nasal bridge, malaligned teeth and short limbs

Robinow Syndrome

58

Bulging forehead

bossing

59

2 types of Robinow Syndrome

1. dominant
2. recessive

60

Robinow syndrome is an ____ syndrome

inherited generic

61

In dominant Robinow Syndrome, the gene is ____

not yet established

62

In recessive Robinow Syndrome, there is a mutation of a specific gene located in chromosome ___, which deals with ___ and ___ formation

9q22, bone and cartilage

63

There is no cure for Robinow Syndrome; treatment involves treating treatable conditions like ____, ____ and ____

dental abnormalities, cleft palate, and orthopedic conditions

64

Genetic syndrome where the individual has __ chromosomes instead of the usual __

47, 46

65

Mild to severe congenital mental retardation accompanied by characteristic facial features and distinctive physical abnormalities

Down Syndrome

66

What are the two types of tests to diagnose Down Syndrome in pregnancy?

1. amniocentesis
2. karyotype

67

There is an extra chromosome number __ in Down Syndrome

21

68

Down Syndrome occurs more often in infants born to women older than ___

35

69

The treatment plan for Down Syndrome is a _____ approach to maximize the development of motor and mental skills

multi-dimensional

70

Life expectancy for babies with Down Syndrome is improved through surgical correction of _____ and antibiotic therapy for _____

cardiac defects, pulmonary disease

71

Down Syndrome is associated with ____ defects

heart

72

Condition consisting of a group of disorders involving the brain and nervous system functions

Cerebral Palsy (CP)

73

3 types of cerebral palsy

1. spastic
2. athetoid
3. ataxi

74

* Type of cerebral palsy: hyperactive reflexes, rapid muscle contractions; 70% of cases

spastic

75

* Type of cerebral palsy: involuntary muscle movements during stress, reduced muscle tone, difficulty with speech

athetoid

76

* Type of cerebral palsy: involuntary movements, poor balance, and wide gait

ataxic

77

CP may be congenital or acquired, bilateral or unilateral in the form of a _____ that results from damage to the CNS

non-progressive paralysis

78

Most common crippler of children

cerebral palsy

79

Cerebral palsy is caused by inadequate blood or oxygen supply to brain during which 3 possible time frames?

1. fetal development
2. the birth process
3. early childhood until 9 years of age

80

Cerebral palsy may also be caused by ___ or ___ during the first month of life

infection or head trauma

81

Cerebral palsy is more common in premature infants and male or female babies?

male babies

82

There is no cure for cerebral palsy, but what is the goal of treatment?

Minimize the handicap by providing therapeutic measures to help the child reach his or her potential

83

What are 5 other treatment options for cerebral palsy?

1. physical therapy
2. speech therapy
3. special education
4. orthopedic intervention
5. anticonvulsants for children with seizures

84

Progressive degeneration and weakening of the skeletal muscles where muscle fibres are abnormally vulnerable to injury

muscular dystrophy (MD)

85

MD first affects the muscles of which 4 areas?

1. shoulders
2. hips
3. thighs
4. calves

86

Later forms of MD involve all the muscles causing ____

immobility

87

MD is associated with what 4 conditions?

1. mental impairment
2. spinal deformities
3. contractures
4. serious pulmonary infections

88

How many types of muscular dystrophy are there?

several, but most are rare

89

The most common type of muscular dystrophy is ____

Duchenne Muscular Dystrophy

90

What are the 2 tests used to diagnose muscular dystrophy?

1. muscle biopsy
2. electromyography (EMG)

91

MD can certainly be a genetic defect, but is caused by the absence of ____, a protein involved in maintaining the integrity of muscle

dystrophin

92

Muscular dystrophy affects only ____ and is inherited through female carriers

males

93

1/3 to 1/2 of muscular dystrophy cases are caused by a ____ and is not associated with family history

newly acquired mutation

94

T or F. There is no cure for MD

T

95

Corticosteroids slow ____ in MD

muscle degeneration

96

* 3 types of spina bifida

1. spina bidifa occulta
2. meningocele
3. myelomeningocele

97

Spina bifida: posterior arches of the vertebrae (usually in the lumbosacral area) fail to fuse but there is no herniation of meninges or spinal cord

spina bifida occulta

98

Spina bifida: no spinal cord or spinal nerve involvement; usually asymptomatic

spina bifida occulta

99

Spina bifida occulta is associated with exposure to ____ during ____ life

ionizing radiation, early uterine

100

Spina bifida occulta may also be caused by metabolic imbalances where there are reduced levels of ___ and ___ consumed during pregnancy

Vitamin A and folic acid

101

What intervention is needed for spina bifida occulta?

There is no intervention needed

102

Treatment for spina bifida occulta depends on the degree of _____

neurologic involvement

103

Spina bifida: posterior portion of the neural tube fails to close in the early stages of fetal development

meningocele

104

Spina bifida: meninges protrude through an opening in the spinal form, forming a sac that becomes filled with cerebrospinal fluid

CSF

105

T or F. Nerves are involved in meningocele.

False

106

In meningocele, the sac formed over the defect may ___ because the skin over the area is usually fragile

rupture

107

Meningocele is caused by which 3 things?

1. genetic factors
2. environmental factors
3. metabolic imbalances: lack of Vit A and folic acid consumed in pregnancy

108

Meningocele requires ____ to correct the defect in the first 24 to 48 hours of life

surgical intervention

109

Spina bifida: most severe form also called Spina Bifida Cystica

myelomeningocele

110

Spina bifida: protrusion of a portion of the spinal cord and the meninges through a defect in the spinal column, usually in the lumbar region

myelomeningocele

111

Infants with myelomeningocele may have what 3 complications?

1. musculoskeletal malformation
2. immobile joints
3. paralysis of the lower extremities

112

T or F. In myelomeningocele, nerve damage is irreversible

T

113

4 conditions associated with myelomeningocele

1. hydrocephalus
2. lack of control over bowel and bladder movements
3. inability to walk
4. death before 2 years of age

114

Myelomeningocele is caused by ____ factors

genetic

115

Myelomeningocele is associated with exposure to ____

Agent Orange

116

Myelomeningocele requires surgical interventions with the first __ hours of life to prevent further deterioration of involved ____, infection and rupture of the ____

24 hours, nerves, herniation

117

Abnormal enlargement of the head due to increased cerebrospinal fluid or blocked circulation of cerebrospinal fluid

hydrocephalus

118

There is increased ____ in hydrocephalus

increased intracranial pressure

119

Left untreated, hydrocephalus causes _____ and eventually death

mental retardation

120

2 types of hydrocephalus

1. obstructive
2. communication

121

* Type of hydrocephalus: impairment of the circulation of CSF in the ventricular circulation

obstructive

122

* Type of hydrocephalus: impairment of the flow of CSF in the subarachnoid space

communicating

123

In hydrocephalus, a large amount of ___ accumulates in the skull

CSF

124

Obstructive hydrocephalus is due to a ___ within the system or a congenital ___

lesion, structural defect

125

Communicating hydrocephalus is due to the prevention of cerbrospinal fluid reaching the area where it normally would be reabsorbed by the ____

arachnoid billi

126

Hydrocephalus may result in these 4 conditions

1. intracranial hemorrhage
2. blood clots
3. prematurity
4. meningitis

127

Hydrocephalus requires surgical intervention where a shunt is placed in the ____ or ____ spaces to drain excessive cerebrospinal fluid

ventricular or subarachnoid spaces

128

_____ help to shunt excessive CSF away from the ____ to maintain normal pressure

one-way valves, cerebrospinal canal

129

The most severe form of neural tube defect that occurs early in gestation

anencephaly

130

In anencephaly, the fetus or neonate has no ____ and little ____

cranial vault, cerebral tissue

131

Most infants with anencephaly die before ____ or during the ___

birth; birth process

132

Newborns with anencephaly may survive a few hours or days because they have several other _____ incompatible with life

neural tube abnormalities

133

More ___ are affected than ___ in anencephaly

females; males

134

Anencephaly is caused by failure of the neural tube at the ____ to ____ completely during the 2nd or 3rd week of prenatal development

cephalic (cranial end), close

135

Anencephaly has a familial tendency but is also associated with the mother's ___ and ___

diet; vitamin intake

136

Is there treatment for anencephaly?

No

137

*4 Acyanotic Heart Defects

1. ventricular septal defect (VSD)
2. patent ductus arteriosus (PDA)
3. coarctation of the aorta
4. atrial septal defect (ASD)

138

*2 Cyanotic Heart Defects

1. tetralogy of fallot
2. transposition of the great arteries

139

The most common congenital cardiac disorder

ventricular septal defect (VSD)

140

In ventricular septal defect, there is an abnormal opening between the right and left ____

ventricles

141

In VSD, blood is shunted from the left side to the right side of the heart due to higher ____ in the ____

pressure in the left ventricle

142

VSD murmur sounds ___ and ___

harsh and holosystolic

143

In patent ductus arteriosus (PDA), the ___ fails to functionally close

ductus

144

In normal fetal circulation, the patent ductus ____, shunting the circulation from the lungs and instead directs blood from the pulmonary tract to the aorta

short-circuits

145

In PDA, the circulation of _____ is compromised because the abnormal opening is a shunt allowing oxygenated blood to _____ through the lungs

oxygen, recirculates

146

PDA murmur sounds like ____ and there is a ____ upon palpitation

machinery; thrill

147

In coarctation of the aorta, the defect is characterized by a narrowed _____

aortic lumen

148

The narrowed aortic lumen in coarctation of the aorta causes partial obstruction of the flow of blood through the ____

aorta

149

In coarctation of the aorta, there is increased _____ pressure and workload

left ventricular

150

There is also decreased _____ distal to the _____ in coarctation of the aorta

blood pressure; narrowing

151

In coarctation of the aorta, there are signs of ____ ventricular failure with pulmonary ____

left ventricular failure; edema

152

In coarctation of the area, systemic blood pressure is _____ when measured in the arms, but ____ in the lower extremeties

elevated; decreased

153

Abnormal opening between the right and left atria

atrial septal defect (ASD)

154

In ASD, blood generally shunts from ___ to ____ in all atrial septal defects

left to right

155

In ASD, a classic _____ murmur can be heard

systolic cardiac

156

The most common cyanotic cardiac defect

tetralogy of fallot

157

In tetralogy of fallot, ____ blood enters the aorta, causing ____

deoxygenated; hypoxia

158

Tetralogy of fallot is a combination of these four congenital heart defects

1. ventricular septal defect
2. pulmonary stenosis
3. dextroposition
4. right ventricular hypertrophy

159

Fallot defect: abnormal opening in the ventricular septum

ventricular septal defect

160

Fallot defect: tightening of the pulmonary valve or vessel

pulmonary stenosis

161

Fallot defect: displacement to the right of the aorta which overrides the ventricular septal defect

dextroposition

162

Fallot defect: increased pressure in the ventricle

right ventricular hypertrophy

163

The aorta and the pulmonary artery are reversed

transposition of the great arteries

164

In transposition of the great arteries, the ___ originates from the right ventricle and the ____ originates from the left ventricle

aorta; pulmonary artery

165

In transposition of the great arteries, there are two _____ circulatory systems

closed-loop circulatory systems

166

In transposition of the great arteries there is one closed-loop circulatory system between the ___ and ___

heart and lungs

167

In transposition of the great arteries there is another closed-loop circulatory system between the ___ and ____

heart and systemic circulation

168

Transposition of the great arteries requires immediate ____

surgical intervention

169

An obvious, non-traumatic deformity of a newborn's foot

clubfoot

170

In clubfoot, the ___ half of the foot is ___ and ___

anterior; adducted; inverted

171

What classifies a true clubfoot?

cannot be manipulated to the proper position

172

Clubfoot is also called _____

talipes equinovarus

173

Clubfoot can be caused by the ____ position

fetal

174

Clubfoot can be caused by genetic factors; abnormal development of the ____ during the ____ stage

germ plasma; embryonic stage

175

Treatment of clubfoot must start early in the ___ period

neonatal

176

3 treatment options for clubfoot

1. cast
2. splints
3. surgerry if 1 and 2 are unsuccessful

177

An abnormal development of the hip joint

development dysplasia of the hip (DDH)

178

In DDH, the abnormality ranges from an unstable joint to dislocation of the ____ from the ____

femoral head; acetabulum

179

Developmental dysplasia of the hip was previously called ____

congenital hip dysplasia (CHD)

180

DDH is caused by the softening of the ____ caused by the maternal hormone ____

ligaments; relaxin

181

DDH may also be caused by ___ presentation at birth

breech

182

DDH is more common in ___ infants

female

183

DDH is treated by returning the ____ to the proper position in the ____

femoral head; acetabulum

184

3 treatment options for DDH

1. legs held by a Pavlik harness
2. splint
3. cast

185

In DDH, a shortening of the ___ is present when the knees and hips are flexed at ___ angles

femur; right

186

Congenital birth defect consisting of one or more clefts in the upper lip

cleft lip

187

Congenital birth defect in which there is a hole in the middle of the roof of the mouth

cleft palate

188

The main problem with cleft lip/palate is the infant's ____ and difficulty ____

appearance; feeding

189

Cleft lip/palate is caused by failure in the ____ of a fetus

embryonic development

190

Cleft lip/palate is a ____ genetic disorder

multifactorial

191

3 treatment options for cleft lip/palate

1. surgical repair
2. special feeding devices
3. speech therapy

192

Failure of one or both of the testicles to descend from the abdominal cavity into the scrotum

cryptorchidism

193

T or F. Cryptorchidism is only bilateral

F; may be uni- or bilateral

194

Cryptorchidism is caused by ___ and is more common in premature infants

hormones

195

In cryptorchidism, testes often descend spontaneously during the ___ year

1st

196

If spontaneous descending doesn't happen by age __, the undescended testes are placed into the scrotum by surgical manipulation

4

197

The surgical manipulation used to treat cryptorchidism

orchiopexy

198

Cryptorchidism is also treated with ______

hormonal drug therapy

199

Drugs used in hormonal drug therapy (cryptorchidism)

B-HCG; testosterone

200

Untreated cryptorchidism may lead to ___ and an increased risk in ___ cancer

virility; testiscular cancer

201

* Highly malignant neoplasm (______) of the kidney affecting children younger than 10

Wilm's tumor; adenosarcoma

202

Wilm's tumor is also called ____

nephroblastoma

203

The most comm kidney tumor of childhood and the fourth most common childhood cancer

Wilm's tumor

204

Wilm's tumor is associated with _____ or absence of the iris

aniridia

205

Wilm's tumor is also associated with ____ anomalies like cryptorchidism and ambiguous ____

genitourinary; genitalia

206

Most Wilm's tumors are unilateral; __% are bilateral or multi-centric

10%

207

Wilm's tumor is caused by abnormal ____ tissue left behind during early embryonic life

fetal kidney tissue

208

When does the abnormal tissue in Wilm's tumor begin unrestrained cancerous growth?

after the child is born

209

___% of Wilm's tumor cases are hereditary

20%

210

T or F. There is no method to identify gene carriers for WIlm's tumor.

T

211

2 treatment options for Wilm's tumor

1. surgical removal of the tumor and accessible metastatic sites
2. chemotherapy with or without radiation therapy

212

Stenosis of the opening of the foreskin in the male leading to an inability to retract the foreskin

phimosis

213

Phimosis causes difficult ____ and accumulation of ____

urination; secretions

214

T or F. Phimosis is always congenital

F. Phimosis may be congenital or acquired

215

T or F. The cause of phimosis is unknown

T

216

3 treatment options for phimosis

1. circumcision
2. gentle washing
3. topical steroid cream

217

Gastric obstruction associated with narrowing of the pyloric sphincter

congenital pyloric stenosis

218

The pyloric sphincter is at the ___ of the stomach

exit

219

Congenital pyloric stenosis is also called ____

congenital hypertrophic pyloric stenosis

220

A symptom of congenital pyloric stenosis is episodes of ____ after feedings

projectile vomiting

221

Congenital pyloric stenosis occurs ___ times more often in males than in female infants

4

222

When congenital pyloric stenosis is left untreated, the infant becomes ___ and experiences ___ imbalances

dehydrated; electrolyte

223

What is the surgical intervention used to treat congenital pyloric stenosis where the constricted pylorus is incised and sutured?

pyloromyotomy

224

Impairment of intestinal motility that causes obstruction of the distal colon

Hirschsprung's disease

225

*Hirschsprung disease see pp 81 for symptoms in children of different ages

-

226

Hirschsprung's disease is also called ____

congenital aganglionic megacolon

227

In Hirschsprung's Disease, there is an abnormal ___ of the intrinsic musculature of the bowel wall resulting in lack of ___ in the affected portion of the colon and succeeding backup of fecal material

innervation; peristalsis

228

In Hirschsprung's disease, ____ ____ ____ cells are absent in a segment of the colon, often the rectosigmoid area

parasympathetic nerve ganglion

229

To treat Hirschsprung disease, the affected bowel is ___ and the normal colon is joined to the ____

excised; anus

230

Surgical intervention for Hirschsprung disease

temporary colostomy

231

How long does the temporary colostomy last to treat Hirschsprung disease

6 months to 1 year

232

Hirschsprung disease is treated with a temporary colostomy proximal to the ___ section of the colon

aganglionic

233

Cystic fibrosis is a chronic dysfunction of this gene that affects multiple body systems

cystic fibrosis transmembrane conductance regulator (CFTR)

234

Cystic fibrosis primarily attacks the ___ and the ___ system but has many clinical manifestations

lungs; digestive system

235

The most common fatal genetic disease

cystic fibrosis

236

Cystic fibrosis is an inherited disorder transmitted as an ____ recessive trait

autosomal

237

Cystic fibrosis is usually fatal but ___ may increase life expectancy

early diagnosis

238

Vitamins taken to manage cystic fibrosis

Vitamins A, D, E, and K

239

Other treatments for cystic fibrosis

1. diets
2. chest physiotherapy
3. pancreatic enzyme supplementation
4. broad spectrum antibiotics
5. insulin for CF-associated diabetes
6. lung transplantation

240

Inborn error in the metabolism of amino acids causing brain damage and mental retardation when not corrected

phenylketonuria (PKU)

241

* Inherited autosomal recessive trait causing defective ___ in ___

enzymatic conversion; protein metabolism

242

In phenylketonuria, the enzyme needed to change the amino acid ____ in the body into ___ is lacking

phenylalanine; tyrosine

243

Phenylketonuria results in the accumulation of phenylalanine in the __ and ___ which is toxic to the brain

blood and urine

244

Phenylketonuria is treated with a ____ diet to allow normal brain development

phenylalanine-free diet

245

How long must a protein-restricted diet be kept up to manage phenylketonuria?

for the rest of their lives

246

To manage phenylketonuria, elimination of ___, ____, ___ and ____ products is required

meat, cheese, nuts, dairy

247

Klinefelter's Syndrome is male hypogonadism in males after puberty with at least two __ chromosomes and one or more __ chromosomes

X; Y

248

Klinefelter's Syndrome is also called

XXY condition

249

Syndrome where there is abnormal development of the testes and reduced levels of testosterone

Klinefelter's syndrome

250

Klinefelter's Syndrome is associated with ____ resulting from ____

infertility; azoospermia

251

What test is used to confirm Klinefelter's Syndrome and differentiates between the mosaic and true form of Klinefelter's

chromosomal smear analyses

252

In Klinefelter's, there is presence of at least two X chromosomes, typically a ___ pattern

47,XXY

253

T or F. The extra X chromosome in Klinefelter's may only be of maternal origin

F; maternal or paternal origin

254

Klinefelter's is not inherited but results from a _____ during gamete formation

nondisjunction

255

Klinefelter's is treated through ____ with ____ by injection during ____

long-term hormone replacement; testosterone; puberty

256

T or F. Ferility can be restored in Klinefelter's with proper treatment

F.

257

Chromosomal disease occuring in females with a single sex chromosome

Turner's Syndrome

258

Chromosomal pattern for Turner's Syndrome instead of the normal 46,XX pattern

45,XO

259

Turner's Syndrome is the most common disorder of ____ in females

gonadal dysgenesis

260

Examples of defects and diseases associated with Turner's Syndrome

low-set ears, swollen hands and feet, webbing of the neck, lack of sexual maturation, amenorrhea, sterility, dwarfism, cardiac and kidney defects; delayed speech and ambulation

261

Turner's Syndrome is caused by the loss of the second __ chromosome caused by ____ during gamete formation

X; nondisjunction

262

Symptoms of Turner's Syndrome is reduced by ___ and ____ therapy

estrogen; growth hormone

263

Test for cystic fibrosis

sweat tests

264

Test for phenylketonuria

Guthrie

265

Test for diphtheria

Schick

266

Test for erythroblastosis fetalis

Coombs