Chronic Myelogenous Leukemia
(mutation?)

Burkitt's Lymphoma
(mutation?)

Cause of Trisomy 21

oblique palpebral fissures, flat facial profile, epicanthic folds, dysplasitc ears, protruding tongue, abundant neck skin,
flat nasal bridge;
(-) Moro reflex, muscle hypotonia;
simian crease, short broad hands, hypoplasia of middle phalanx, gap bet 1st and 2nd toe

associated CHD (endocardial cushion: ventricular/atrial septal defects);
esophageal atresia, small bowel stenosis, imperforate anus;
acute leukemia;
premature Alzheimer's;
dec immune response

prominent occiput, micrognathia, short neck, overlapping fingers, rocker bottom feet

microcephaly, micropthalmia, cleft lip & palate, polydactyly, rocker bottom feet

Chromosome 22 Deletion Syndrome:
where is the deletion?

thymic hypoplasia, parathyroid hypoplasia, cardiac manifestations, absence of T-cells, prone to viral infection;
hypocalcemia --> seizures, cyanosis, tetany

facial dysmorphism: small & sharp chin, small mouth w/ slightly everted uppr lip, long nose w/ prominent tip;
cardio abnormalities, learning disabilities, high arch palate;
mental retardation

47XXY, 48XXXY

45XO, 46XXp- or q-

hypogonadism in phenotypic females

Turner's: high postnatal mortality, do not live to adulthood
(chromosomal pattern?)

Turner's: defective 2nd X chromosome
(chromosomal pattern?)

Turner's: do not completely express classical phenotype
(chromosomal pattern?)

short stature, 1˚ amenorrhea, infertility, webbing of neck, chubby appearance, lymphedema, broad chest, wide spaced nipples, low post hairlines, pigmented nevi, coarctation of aorta

Klinefelter's: classic case
(chromosomal pattern?)

Klinefelter's: mosaic patterns?

testicular atrophy, azoospermia, gynecomastia, female dist. of hair, tendency to mental retardation, euchonoid body habitus w/ abnormally long legs

phenotypic male;
inc incidence of type II DM, metabolic syndrome, breast cancer, extragonadal germ cell tumors, autoimmune dis,, SLE

phenotypically normal males;
excessively tall, prone to acne

phenotypically normal females;
tendency to mental retardation;
amenorrhea, menstrual irregularities

presence of both ovarian and testicular tissue

divergent gonadal vs phenotypic sex

normal internal genitalia, ambiguous external genitalia;
no vagina/uterus, short penis, congenital adrenal hyperplasia

gonads are exclusively testes, external genitalia are either ambiguous or completely female

Complete androgen insensitivity syndrome, testicular feminization
(mutation at what chromosome?)

deficiency in Marfan's Syndrome

unusually tall, long & tapering extremities, arachnodactyly, dolichocephalic, bossing of frontal eminences, prominent supraorbital ridges, spinal deformities, pectus excavatum, loose jointed, loose skin

ectopia lentis, severe myopia,
retinal detachment

mitral valve prolapse,
cystic medionecrosis -> aortic dissection,
aortic dilation, aortic insufficiency

defect in Ehler's-Danlos Syndrome

inheritance of Marfan's

usual clinical manifestation
of Ehler's-Danlos Syndrome

EDS: skin & joint hypermobility, atrophic scars, easy bruising
(specific type, gene defect?)

EDS: joint hypermobility, pain, dislocations
(specific type?)

EDS: thin skin, arterial or uterine rupture, bruising, small joint hyperextensibility
(specific type, gene defect?)

EDS: hypotonia, joint laxity,
congenital scoliosis, ocular fragility
(specific type, gene defect?)

EDS: severe joint hypermobility,
miid skin changes, scoliosis, bruising
(specific type, gene defect?)

EDS: severe skin fragility,
cutis laxa, bruising
(specific type, gene defect?)

inheritance of EDS;
all are autosomal dominant except?

xanthoma formation, atherosclerosis

inheritance of
Familial Hypercholesterolemia?

Familial Hypercholesterolemia:
mutations?

defect in Albinism?

increased sensitivity to solar exposure (prone to wrinkles, squamous cell carcinoma, basal cell carnioma,
solar keratosis);
impaired visual acuity

defect in Alkaptonuria (Ochronosis)?

brittle cartilage, degenerative arhtropathy, blue-black staining of connective tissue

glycogenosis: hepatomegaly, renomegaly;
hypoglcemia, hyperlipidemia, hyperuricemia,
seizures

enzyme involved in Von-Gierke's?

glycogenosis: muscle cramps after exercise

enzyme involved in McArdles?

glycogenosis: cardiomegaly

enzyme involved in Pompe's?

Tay-sachs:
enzyme deficient?
accumulation?

ballooned neurons, cytoplamsic vacuoles, whorled configuration w/in lyososomes;
cherry red spot;
progressive motor & mental retardation

Niemann-Pick:
enzyme deficient?
accumulation?

deficiency in sphingomyelinase;
progressive neurologic involvement,
marked visceral enlargement,
death in 3yrs

deficiency in sphingomyelinase;
organomegaly w/o CNS involvement

defect in transport of cholesterol;
still birth, neonatal hepatitis,
or chronic neurologic damage

foam cells in liver/spleen

Gaucher's:
enzyme deficient?
accumulation?

chronic, non-neuropathic;
involves skeletion & spleen;
decreased activity of glucocerebrosidase

infantile acute cerebral pattern;
complete absence of glucocerebrosidase

intermediate activity of glucocerebrosidase

crumpled tissue paper foamy cells

Fragile-X Syndrome:
mutation?

Fragile-X Syndrome:
fragiles sites located?

mental retardation (IQ 20-60), autistic-like manifestations, long narrow face w/ large mandible, large everted ears, macroorchidism

Prader-Willi Syndrome mutation?

infertility, sparse pubic hair,
pathologic obesity,
hypotonia, learning disabilities,
borderline intellectual capacity,
prone to DM & hypogonadism

Angelman Syndrome mutation?

impairments in hippocampal memory, intellectual & developmental delay, sleep disturbance, seizures, jerky movements, inappropriate laughter