Diseases Yo Flashcards
(26 cards)
Wilson’s Disease
Due to mutation in ATP7B gene.
Coding the ATP7B protein: that helps transfer excess copper into the blood stream and bile.
Liver disease (cirrhosis) and neurological problems (psychological and movement disorder).
What identifying structure can help us suspect Wilson’s Disease?
Kayser-Fleischer Rings: corneal deposits of copper visibile on eye examination
What diseases do 1q21.1 duplications result in?
Autism, macrocephaly
What disease does 1q21.1 deletions result in?
Schizophrenia, microcephaly
DiGeorge Syndrome is a mutation on what chromosome?
ch 22q (on unstable region)
Autism, macrocephaly, schizophrenia, microcephaly are diseases on what chromosome?
1q21.1
Chronic myelogenous leukemia
a result of reciprocal chromosome translocation.
95% have a philedelphia ch. (22) and and abnormal ch 9
Treated by gleevac
Trisomy 21 can result from which 5 mechanisms?
- Meiosis I nondisjunction (maternal) (95% of down patients)
- Robertsonian translocation (4%)
- Isochromosome (21q21q translocation)
- Mosaic Down syndrome
- Partial trisomy 21
Charcot Marie Tooth (CMT1A1)
Autosomal dominant disorder caused by duplication of 17p.11.2, containing the gene for peripheral myelin protein-22 (PMP-22)
Characterized by weakness of the foot/lower leg muscle, foot deformities (hammertoes), weakness, muscle atrophy of hands
Hereditary neuropathy with predisposition to pressure palsies
Deletion of gene encoding peripheral myelin protein-22, 17 p11.2, resulting in deletion of PMP-22
What are the types of hereditary sensory motor neuropathy disorders?
Charcott Marie Tooth
Hereditary neuropathy with predisposition/liability to pressure palsy
What are two continuous gene syndromes?
Velocardial facial syndrome
DiGeorge syndrome
What are two types of gene imprinting syndromes?
Prader-Willi syndrome
Angelman syndrome
Prader-Willi and Angelman syndrome are both due to a deletion on which chromosome?
del(15q11-q13)
PWS: SNORD116 (snoRNA gene)
AS: UBE3A
Cri-du-chat syndrome
46, XY, del(5)(p15)
a deletion in ch 5 in denoted p-one-five region.
trisomy 21
Down syndrome
characteristics: short stature, hypotonia, moderate intellectual disabilities, Brushfield spots, flat nasal bridge, low set, folded ears, epicanthal folds, and upslanting palpebral fissures ect.
Congenital malformations – endocardial cushion defects, duodenal atresia and
other gastrointestinal anomalies, Hirschprung disease. ect.
trisomy 18
Edward’s syndrome
characteristics: Intrauterine growth retardation, characteristic facies, severe intellectual disabilities, o Receding jaw, Malformed and low set ears, Short sternum, Fists clench with 2nd and 5th digits overlapping 3rd and 4th digits, Rocker-bottomed feet with prominent calcaneous bones, Single palm creases with arch patterns on digits
.
Congenital malformations – valvular heart disease, posterior fossa CNS maldevelopment, diaphragmatic hernias, renal anomalies
trisomy 13
Patau’s syndrome
characteristics: Characteristic facies, severe intellectual disabilities, Sloping forehead, Microccephaly, Wide, open sutures, Micropthalmia (sm eyes), Iris Coloboma (holes, defects in iris), Absence of the eyes, Cleft lip, Cleft palate, Hands and feet may have polydactyly, Rocker-bottomed feet, Transverse palmar creases, Fists clench with 2nd and 5th digits overlapping 3rd and 4th digits
Congenital malformations – holoprosencephaly, facial clefts, polydactyly, renal anomalies
47, XXY
Klinefelter’s syndrome
Tall stature, hypogonadism, elevated frequency of gynecomastia, high frequency of sterility, language impairment
45, X
Turner’s syndrome
Short stature, webbed neck, edema of hands and feet, broad shield-like chest, narrow hips, renal and cardiovascular anomalies, gonadal dysgenesis (failure of ovarian maintenance).
Edwards syndrome
Trisomy 18
characteristics: Intrauterine growth retardation, characteristic facies, severe intellectual disabilities, o Receding jaw, Malformed and low set ears, Short sternum, Fists clench with 2nd and 5th digits overlapping 3rd and 4th digits, Rocker-bottomed feet with prominent calcaneous bones, Single palm creases with arch patterns on digits
.
Congenital malformations – valvular heart disease, posterior fossa CNS maldevelopment, diaphragmatic hernias, renal anomalies
Williams syndrome
Del(7q11.2)
An autosomal contiguous gene syndrome
Congenital heart disease
Short stature
Del (22q11.2)
DeGeorge syndrome
Velocardial facial syndrome
chronic myelogenous leukemia (CML)
karyotype and treatment
t(9:22)
aka chronic lymphocytic leukemia
BCR-ABL normally exists as two separate tyrosine kinases, the translocation mut. causes them to fuse
treated by gleevac
