genetic and developmental disease

85 cards

genetic and developmental diseases

Created Feb 10, 2007
by kparchomchuk

Shuffle Cards

Table View

Download

Flashcard Set Preview

	Side A	Side B
1	greek for monster	teraton
2	physical teratogen	radiation
3	chemical teratogens	drugs (thalidomide caused phocomelia), alcohol (FAS)
4	TORCH	Toxoplasma, Others, Rubella, Cytomegalovirus, Herpes virus
5	carry the same genes	homologous chromosomes
6	characteristics of down's syndrome	mental retardation, characteristic facial features, abnormal extremities, congenital defects...
7	medial fold of the upper eye lid	epicanthus
8	enlarged tongue that often protrudes	macroglossia
9	5th finger is short and crooked	clinodactyly
10	abnormalities of sex chromosomes	turner's syndrome, klinefelter's syndrome, super male
11	turner's syndrome	short stature, webbed neck, broad chest, normal genitals, but sterile females (1/3000 births)
12	klinefelter's syndrome	infertile males with female characteristics (breasts, hips), but diminutive male genitalia...
13	super male	normal fertile male, but 20x more likely to commit a violent crime (1/1000 males)
14	autosomal dominant disorders	marfan syndrome, hypercholestermia, huntington's chorea, neurofibromatosis
15	marfan's syndrome	myltisystemic disease characterized by dolichocephaly, kyphoscloiosis, cv problems, cateracts,...
16	dolichocephaly	elongated head
17	kyphoscloiosis	spinal deformities
18	hypercholesteremia	lack of LDL receptors causes excessive plaque formation on arteries (1/500); leading cause...
19	huntington's chorea	fatal progressive degeneration of motor control; onset in mid 40's; terminates in dementia
20	neurofibromatosis	brain tumors develop due to faulty p53 tumor supressor gene
21	autosomal recessive disorders	cystic fibrosis, sickle-cell anemia, thalassemia, tay-sach's disease, phenylketonuria, albinism
22	cystic fibrosis	faulty chloride transport through membranes; more common in whites; fatal
23	sickle-cell anemia	abnormal Hb in RBC's; more common in blacks; fatal
24	thalassemia	similar to sickle-cell, but cells are small, fragile, and contain fetal Hb; fatal
25	tay-sach's disease	abnormal lysosomes in neurons in the brain; fatal (1/36000 jews)
26	phenylketonuria	faulty metabolism of the a.a phenylalanine; found in aspartame (1/15000)
27	albinism	total lack of pigmentation
28	sex-linked disorders	hemophilia, duchesnne's muscular dystrophy
29	hemophilia	lacking factor VIII or IX, an important mediator of blood clotting (1/5000 males)
30	duchesnne's muscular dystrophy	progressive muscle wasting; fatal (1/3300 males)
31	multifactorial genetic disorders	anencephaly, dwarfism, mental retardation, hypertension, T2 diabetes mellitus
32	anencephaly	brain and spinal cord (spina bifida) fail to develop (prevented by folic acid)
33	dwarfism	abnormally small stature; insufficient GH
34	mental retardation	abnormal development of the brain and/or cognitive function; genetic or congenital
35	hypertension	high BP; other risk factors involved
36	T2 diabetes mellitus	faulty glucose metabolism; also linked to obesity and sugar intake
37	autosomal recessive disorders:	these traits are encoded by genes located on one of the 22 autosomes
38	chromosomes	barlike bodies of tightly coiled chromatin; visible during cell division
39	premature	characterized by children born before the 37th week of pregnancy and those who weigh
40	Sudden Infant Death Syndrome (SIDS)	sudden unexpected death in infants 2-9 mo.
41	teratogens	agents that cause fetal abnormalities
42	prenatal diagnosis	one of the most important elements of genetic counseling. Diagnoses many genetic diseases &...
43	examples of prenatal diagnosis	ultrasonographic examination, chorionic villus biopsy, amniotic fluid analysis, maternal blood...
44	CT disease	marfan syndrome
45	bone diseases	anchondroplastic dwarfism, osteogenesis imperfecta
46	CV system disease	familial hypercholesteremia
47	kidney disease	adult polycystic kidney disease, wilm's tumor
48	hematopoeitic system disease	spherocytosis
49	GI system disease	familial polyposis coli
50	nervous system disease	huntington's disease, neurofibromatosis
51	lack portions of the chromosomal structure	deletions
52	bits moved from one chromosome to another	translocations
53	humans have this many chromosomes	46 (23 pairs) 1 pair is the sex chromosome, either XX or Xy & the other 22 pairs are autosomal.
54	Gives rise to down's syndrome	an extra chromosome 21 (trisomy 21)
55	The likelihood of inheriting an Autosomal dominant disorder from one parent is:	50%
56	Protein functions	membrane transport, structure, enz activity, mvt, cell ID, cell adhesion, DNA replication,...
57	numerical chromosomal abnormality involving a loss or gain of chromosomes	Aneuploidy
58	The most common autosomal recessive disease	cystic fibrosis
59	alternate forms of genes	alleles
60	due to incomplete fusion of the midline structures covering the spinal cord	anencephaly
61	muscle wasting disease caused by a gene on the X chromosome	muscular dystrophy
62	deletions cause pathologies such as	wilm's tumor, mental retardation, or retinoblastoma
63	translocations usually cause	infertility, or congenital malformation syndromes
64	common numerical abnormality involving an autosomal chromosome	Down's syndrome
65	inborn error of protein metabolism	phenylkenonuria
66	the 4 stages of normal prenatal development	preimpantation, embryonic, early organogenesis, late organogenesis
67	preimplantation stage	extends from the first cleavage of the zygote ot the formation of the blastocyst
68	embryonic stage	characterized by germ layer formation during early postimplantation stages of development
69	early organogenesis	organ primordia formation
70	late organogenesis	the anatomic and functional maturation of organs occurs
71	most common source of physical teratogens	radiation
72	congenital rubella is marked by a triad that includes:	microcephaly, microphthalmia, and congenital heart disease
73	small brain	microcephaly
74	dilation of the lateral ventricles	hydrocephalus
75	small eyes	microphthalmia
76	inflammation of the inside layers of the eye with calcifications	chorioretinitis
77	clouding of the lens	cateract
78	What can cause intraventricular hemorrhage in a premature neonate	IRDS (infant respiratory distress syndrome)
79	Familial diseases that are not inherited according to the rules of Mendelian genetics are considered...	multi-factorial inheritance patterns
80	Name the most common type of muscular dystrophy	Name the most common type of muscular dystrophy
81	4 subdivisions associated w/ hypercholesteremia	high blood cholesterol, high cholesterol, high serum chol, hyperlipidemia (all familial)
82	Formation of xanthomas	deposition of chol in CT of the skin leads to formation of lipid-rich nodules called xanthomas;...
83	What age is the typical onset of Duschennes Mucular Dystrophy?	early childhood; about 2-6yrs
84	How does Duschenne's muscular dystrophy progress?	slowly, but will affect all vol muscle. survival is rare beyond late 20's.
85	What are some typical symptoms associated with Duschenne's muscular dystrophy?	generalized weakness & muscle wasting affecting limb and trunk muscles first. calves are often...