Genetics Pathology

Front 1

Down syndrome

Back 1

Trisomy 21 due to meiotic nondisjunction (95%) or robertsonian translocation (4%); Severe mental retardation, mongoloid features, brushfeld spots, simian crease, heart defects, duodenal atresia, ALL, Alzheimer's by age 40

Front 2

Edward syndrome

Back 2

Trisomy 18. Mental retardation, low set ears, micrognathia, heart defects, overlapping flexed fingers, rocker-bottom feet

Front 3

Patau syndrome

Back 3

Trisomy 13. Mental retardation, cleft lip or palate, cardiac defects, renal defects, microcephaly, polydactyly

Front 4

Cri du chat

Back 4

5p deletion. Cat-like cry, mental retardation, heart defects, microcephaly

Front 5

Klinefelter syndrome

Back 5

47XXY. Male hypogonadism, testicular atrophy, infertility, female distribution of hair, gynecomastia, elevated LH/FSH, low levels of testosterone

Front 6

Turner syndrome

Back 6

45X0. Female hypogonadism, no barr body, no secondary sex characteristics, short stature, widely spaced niples, gonadal dysgenesis, amenorrhea, infertility, hypothyroidism, preductal coarctation of the aorta, bicuspid aortic valve

Front 7

Female hermaphrodite

Back 7

46XX. Female internal organs, virilized external genitalia. Cause: congenital adrenal hyperplasia, androgen-producing tumor

Front 8

Male hermaphrodite

Back 8

46XY. Testes present, female genitalia, testicular feminization. Cause: androgen insensitivity syndrome

Front 9

CCystic Phibrosis

Back 9

Chloride Channel protein defect, DP508 on chromosome 7. Recurrent psudomona/staph infections, chronic bronchitis, bronchiectasis, atrophy of pancreatic ducts, pancreatic insuficiency, fat malabsorbtion, steatorrhea, infertility, meconium ileum, elevated NaCl sweat test

Front 10

PKU

Back 10

Deficiency of phenylalanine hydroxylase. Mental retardation by 6 months, light-colored hair and skin, musty odor. Avoid aspartame, monitor pregnancy

Front 11

Alkaptonuria

Back 11

"Black Homo" homogentisic acid oxidase deficiency. Black urine, black cartilage

Front 12

Albinism

Back 12

Tyrosinase deficiency. Increased risk of squamous carcinoma, no melanin

Front 13

Von Gierke disease

Back 13

Glucose 6 phosphatase deficiency. Hepatomegaly, fasting hypoglycemia, hyperuricemia

Front 14

Pompe disease

Back 14

Lysosomal alpha 1-4 glucosidase deficiency. Hepatomegaly, muscle hypotonia, cardiomegaly

Front 15

McArdle disease

Back 15

Myophosphorylase deficiency. Excersice-induced muscle cramps

Front 16

Tay SaX

Back 16

Hexosaminidase A deficiency with acumulation of glangliocerebroside GM2. Mutation of HEXA gene on chromosome 15. Cherry-red spot on retina

Front 17

Nieman PickS

Back 17

Sphingomyelinase deficiency. Cherry-red spot on retina, hepatosplenomegaly, zebra bodie on EM

Front 18

Gaucher disease

Back 18

Glucocerebrosidase deficiency. In adulthood, hepatosplnomegaly, hypersplnism, lymphadenopathy

Front 19

Mucopolysaccharidosis

Back 19

Glycosaminoglycans acumulation. Mental retardation, cloudy cornea, coarse facial features, hepatosplnomegaly, skeletal deformities

Front 20

Familial hypercholesterolemia

Back 20

Mutation on LDL receptor gene on chromosome 19. Xanthomas, xanthelasmas, atherosclerosis

Front 21

Marfan syndrome

Back 21

Mutation of fibrillin gene on 15q. Tall, thin with big extremities, hyperextensible joints, pectus excavatum, ectopia lentis, disecting aortic aneurysm, aortic insuficiency, mitral prolapse

Front 22

Ehlers-Danlos

Back 22

Hyperxtensible skin and joints. Collagen gene defects

Front 23

Menkes disease

Back 23

Mutation in Cu+ efflux protein gene. High concentration of Cu+ that cant be released. Associated with Ehlers-Danlos type 9

Front 24

Neurofibromatosis type 1

Back 24

Von Recklinghousen disease (has 17 letters). NF-1 tumor suppressor gene mutation on chromosome 17. Normal gene product neurofibromim inhibits p21 ras oncoprotein. Neurofibromas, café-au-lait spots, Lisch nodules (pigmented iris hamartomas)

Front 25

Neurofibromatosis type 2

Back 25

NF-2 tumor suppressor gene mutation on chromosome 22. Bilateral acoustic neuromas, café-au-lait spots, pheochromocytoma

Front 26

Von Hippel Lindau disease

Back 26

Mutation on VPL tumor suppressor gene on chromosome 3p. Retinal hemangioblastoma, hemangioblastoma of cerebellum, brainstem and spinal cord, cysts of the liver, pancreas and kidneys, bilateral renal carcinomas

Front 27

Fragile X syndrome

Back 27

X-linked dominant mutations on FMR-1 gene. CGG triplet repeats. Retardation elongated face with large jaws, large everted ears, macroorchidism

Front 28

Huntington disease

Back 28

CAG triplet repeats of huntington gene produces neurotoxic protein. Progressive dementia, choreiform movements

Front 29

Prader-Willi syndrome

Back 29

Deletion of paternal 15q. Mental retardation, obesity, hypogonadism, hypotonia

Front 30

Angelman syndrome

Back 30

deletion of maternal 15q. Retardation, seizures, ataxia, inapropriate happy-puppet laughter

Front 31

Homocystinuria

Back 31

Cysthathione synthase deficiency. Resembles Marfan. Ectopic lens, arachnodactyly, eunuchoid proportions osteoporosis, atherosclerosis, DVT

Front 32

Classic 21B-Ohase deficiency

Back 32

Hypovolemia, hyponatremia, female pseudohermaphrodite, hirsutism (increased 17 KS), skin hyperpigmentation (high ACTH increases melanin). Labs: increased serum 17OH-progesterone, hyperkalemia, metabolic acidosis, increased 17KS, decreased 17OHCS, hypocortisolism

Front 33

Non-classic 21B-Ohase deficiency

Back 33

Increase in 17 KS, hirsutism, no salt loss, acne in females, secondary amenorrhea. Labs: increased 17OH pregenterone

Front 34

Classic 11OHase deficiency

Back 34

Salt retention/hypertension (11-deoxycorticosterone), increased 17KS (virilization), skin hyperpigmentation

Front 35

17OHase deficiency

Back 35

Salt retention, hypertension, (aldosterone), female hypogonadism (decreased 17KS), male pseudohermaphrodite (low 17KS). Labs: low 17KS, 17OHCS, hypocortisolism, increased ACTH