CH 9--GENETIC DISORDERS--3 Q'S

Question 1

___________– refers to the failure of an organ to develop during embryonic growth and development due to the absence of primordial tissue.

Answer 1

agenesis

Question 2

____________— (embryology), which indicates ABNORMAL organ DEVELOPMENT during embryonic growth and development; Anterior segment.

Answer 2

Dysgenesis

Question 3

____________—–incomplete development or UNDERDEVELOPMENT of an organ or tissue.

Answer 3

hypoplasia

Question 4

__________—ORGAN IS COMPLETELY ABSENT!! This is completely different from agenesis in that the primitive analge is formed, but fails to develop further.

Answer 4

APLASIA

Question 5

_____________—a disorder present at birth, regardless of its cause.

Answer 5

CONGENITAL

Question 6

___________—-any stable heritable genetic change, whether or not associated with detectable structural abnormalities of the CHROMOSOMES.

Answer 6

MUTATION

Question 7

A _____________ is the number and appearance of chromosomes in the nucleus of a eukaryotic cell. The term is also used for the complete set of chromosomes in a species, or an individual organism. Wikipedia

Answer 7

karyotype

MALES = 46, XY

FEMALES = 46, XX

Question 8

__________–an abnormal number of chromosomes (not a multiple of 23)

__________–associated with one LESS normal chromosome

___________—associated with one EXTRA chromosome

Answer 8

ANEUPLOIDY

MONOSOMY

TRISOMY

Question 9

TRISOMY 21 AKA _______________________________

It is the most common chromosomal disorder. This happens more often with women older than 45. Severe mental retardation, broad short trunk, serious infections, congenital heart disease. 40% die in infancy. Ave lifespan is around 30 years..if live past 35…they will face Alzheimer’s disease.

Answer 9

DOWN’S SYNDROME

Question 10

TRISOMY 18 AKA _____________________

Death BEFORE the age of 1. mental retardation, low set ears, short sternum and pelvis.

Answer 10

EDWARD’S SYNDROME

Question 11

TRISOMY 13 AKA ________________

DIE BEFORE THE AGE OF ONE…cleft palate, POLYdactyly. microcephaly and mental retardation.

Answer 11

PATAU’S SYNDROME

Question 12

_____________________ SYNDROME

deletion of the short arm of chromosome 5..
ex..46,XX, 5p- or 46, XY 5p-
microcephaly, growth retardation,

Answer 12

CRI DU CHAT

Question 13

_____________ SYNDROME (TESTICULAR DYSGENESIS)—-male hypogonadism, Karyotype 47,XXY is the most common. it is the main cause of infertility in MALES. absent or diminished number of sperms, gynecomastia, tall appearance.

Answer 13

KLINEFELTER’S

Question 14

_______________ SYNDROME
Hypogonadism in phenotype FEMALES resulting from complete or partial monosomy of x chromosomes. bilateral neck webs, short stature atrophic ovaries, no ova in the follicles.

Answer 14

TURNER’S

Question 15

AUTOSOMAL “DOMINANT” DISORDERS–1

___________ SYNDROME: A disorder of connective tissue, muscles poorly developed, prominent supra orbital bridges, cardio lesions, tall stature and long limbs. elongated head, long fingers and toes.

Answer 15

MAFAN’S

Question 16

AUTOSOMAL “DOMINANT” DISORDERS–2

NEUROFIBROMATOSIS…AKA ______ _______ DISEASE

Tumors are neurofibromas, in skin and internal organs, key to remember….”CAFE AU LAIT macules along the course of the nerve. scoliosis and hydrocephalus.

Answer 16

VON RECKLINGHAUSEN

Question 17

AUTOSOMAL “DOMINANT” DISORDERS–3

FAMILIAL HYPERCHOLESTEMIA—caused by mutation of the gene responsible for the formation of receptors for LDL.

Answer 17

know this familial cholesterol problem of high LDL.

Question 18

AUTOSOMAL “RECESSIVE” DISORDERS

ALBINISM—if TYROSINASE is absent, there is NO production of DOPA or melanin. the patient is known as
“____________ ________“…increased sensitivity to light and skin carcinoma

Answer 18

tyrosinase negative

Question 19

AUTOSOMAL “RECESSIVE” DISORDERS

CYSTIC FIBROSIS—affects exocrine glands, sweat glands secrete abnormally high levels of _______ and chloride. Most common lethal genetic disorder in the USA. The excess mucus obstructs the lungs, blocks the bile ducts and 50% die by age of 10..80% die by age of 20.

Answer 19

sodium