CH 9--GENETIC DISORDERS--3 Q'S Flashcards
___________– refers to the failure of an organ to develop during embryonic growth and development due to the absence of primordial tissue.
agenesis
____________— (embryology), which indicates ABNORMAL organ DEVELOPMENT during embryonic growth and development; Anterior segment.
Dysgenesis
____________—–incomplete development or UNDERDEVELOPMENT of an organ or tissue.
hypoplasia
__________—ORGAN IS COMPLETELY ABSENT!! This is completely different from agenesis in that the primitive analge is formed, but fails to develop further.
APLASIA
_____________—a disorder present at birth, regardless of its cause.
CONGENITAL
___________—-any stable heritable genetic change, whether or not associated with detectable structural abnormalities of the CHROMOSOMES.
MUTATION
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
karyotype
MALES = 46, XY
FEMALES = 46, XX
__________–an abnormal number of chromosomes (not a multiple of 23)
__________–associated with one LESS normal chromosome
___________—associated with one EXTRA chromosome
ANEUPLOIDY
MONOSOMY
TRISOMY
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.
DOWN’S SYNDROME
TRISOMY 18 AKA _____________________
Death BEFORE the age of 1. mental retardation, low set ears, short sternum and pelvis.
EDWARD’S SYNDROME
TRISOMY 13 AKA ________________
DIE BEFORE THE AGE OF ONE…cleft palate, POLYdactyly. microcephaly and mental retardation.
PATAU’S SYNDROME
_____________________ SYNDROME
deletion of the short arm of chromosome 5..
ex..46,XX, 5p- or 46, XY 5p-
microcephaly, growth retardation,
CRI DU CHAT
_____________ 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.
KLINEFELTER’S
_______________ 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.
TURNER’S
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.
MAFAN’S
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.
VON RECKLINGHAUSEN
AUTOSOMAL “DOMINANT” DISORDERS–3
FAMILIAL HYPERCHOLESTEMIA—caused by mutation of the gene responsible for the formation of receptors for LDL.
know this familial cholesterol problem of high LDL.
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
tyrosinase negative
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.
sodium
