Genetic Disorder Flashcards
What are the inheritance patterns of Ehler-Danlos syndrome?
Autosomal Dominant and Autosomal Recessive
What is the genetic defect found in Marfan Syndrome? Which chromosome can this be found?
Fibrillin - 1 gene ( chromosome 15)
Marfan = F a = F1
Marfan’s Syndrome = 15 letters = Chromosome 15
Name the two X-linked dominant disorders?
- Alport Syndrome
- Vitamin D- resistant Rickets
What is the most common lysosomal storage disorder? What is the defect in this disorder?
- Gaucher disease- Glucocerebrosidase ( B- glucosidase) deficiency
What cardiac finding is most associated in Trisomy 21?
What hematologic cancer is most commonly found in patients with this disorder?
Endocardial cushion defect;
Acute megakaryoblastic leukemia
What is the single most important cause of primary amenorrhea?
Turners syndrome
Most common chromosomal disorders, leading cause of MR , most common cause :
Nondisjunction of Ch21 during meiosis ; diagnostic clinical features: flat facial profile , oblique palpebral fissures, and epicanthal folds.
Trisomy 21 ( Down Syndrome )
Prominent occiput, mental retardation, micrognathia, low set ears, short neck , overlapping fingers , cardiac defects, renal malformations, limited hip adbuction , and rocker bottom feet are features of this syndrome?
Trisomy 18 ( Edward Syndrome)
Microcephaly and mental retardation, microphathalmia , cleft lip and palate, polydactyly, cardiac defects, and rocker-bottom feet are features of this syndrome.
Trisomy 13 ( Patau Syndrome)
Note: underlying features help distinguish syndrome from Trisomy 18
Which of the following is Not X-linked ?
a. Brutonagamaglubinemia
b. Ehler-Danlos Syndrome
c. G6PD deficiency
d. Hemophilia A
Ehler-Danlos Syndrome : Autosomal Dominant & Recessive
23/M with atherosclerotic cardiovascular disease and xanthomas. Family history of similar disease is noted. Elevated LDL-C with normal triglycerides. Diagnosis?
Familial hypercholesterolemia
Most common mutated gene in Familial hypercholesterolemia?
LDL receptor (LDLR) ( 80-85% of cases)
23/ M , 6’1” , presents with sharp anterior chest pain radiating to the back then downward. What disease should be considered?
Marfan Syndrome
Which of the following genetic abnormalities is NOT associated with the development of congenital heart disease ?
a. Trisomy 13
b. 15
c. 16
d. 18
e. 21
Trisomy 16
The following diseases are related to Marfan Syndrome. (3)
- Bicuspid aortic valve
- Familial thoracic aortic aneurysm
- Ehlers-Danlos Syndrome
Mutation in the gene of this lipoprotein results in a receptor disease of familial hypercholesterolemia.
LDL
Characterized by a complete lack of immunoglobulin due to disordered B-cell maturation, where pre and pro-B cells fail to mature.
X- linked ( Burton) Agammaglobulinemia
X linked disease typically seen almost exclusively in males and usually seen until 6 months of age?
X- linked ( Burton) Agammaglobulinemia
Live vaccines such as Polio mus be avoided in these individuals?
X- linked ( Burton) Agammaglobulinemia
Mutation in this gene leads to inability of leukocytes and platelets to reorganize the actin cytoskeleton, causing defective antigen presentation.
WAS Gene
Wiskott-Aldrich Syndrome
Manifestations in Wiskott-Aldrich Syndrome?
WATER
Wiskott
Aldrich
Trombocytopenia
Eczema
Recurrent pyogenic infection
Defect in LFA-1 integrin ( CD 18) protein on phagocytes results in impaired migration and chemotaxis.
Leukocyte Adhesion Deficiency ( Type 1)
Genetic disposition of Leukocyte Adhesion Deficiency ( Type 1) ?
Autosomal Recessive
Clinical features of this disease include late separation ( >30 days) of umbilical cord, absent pus, dysfunctional neutrophils, and recurrent skin and mucosal bacterial infections.
Leukocyte Adhesion Deficiency ( Type 1)
Defect in lysosomal trafficking regulator gene (LYST) causes microtubule dysfunction in phagosome-lysosome fusion.
Chediak - Higashi Syndrome
Genetic disposition of Chediak - Higashi Syndrome?
Autosomal Recessive
Clinical presentation of Chediak - Higashi Syndrome?
PLAIN
Progressive neurodegeneration
Lymphohistiocytosis
Albinism (partial)
Recurrent pyogenic Infections , peripheral Neuropathy
Defect in NADPH oxidase leads to reduced reactive oxygen species (eg. Superoxide) and impaired respiratory burst in neutrophils.
Chronic Granulomatous Disease
Most common Genetic disposition of Chronic Granulomatous Disease?
X-linked form
Disease which has increased susceptibility to catalase-positive organisms results in recurrent infections and granulomas.
Chronic Granulomatous Disease
Oncogene associated with GIST and mastocytosis ?
c-KIT
Oncogene that can be found in CML & ALL.
BCR-ABL
Oncogene found in myeloproliferative neoplasm?
JAK2
Oncogene mutations contributes to adenoma-carcinoma development? (3)
- KRAS mutation
- SMAD2/SMAD 4 losses
- TP53 inactivation
Trinucleotide repeat expansion defect in Fragile X Syndrome?
CGG
Chin ( protruding)
Giant
Gonads
CGG balik sa imo Fragile na X na dakog itlog
Trinucleotide repeat expansion defect in Huntington Disease?
CAG repeats
Caudate
decreases ACh
GABA
Huntington CAG Nawng
Trinucleotide repeat expansion defect in Myotonic Dystrophy?
CTG repeats
Cataract
Toupee ( early balding in males)
Gonadal atrophy in males reduced fertility in females
Trinucleotide repeat expansion defect in Friedreich ataxia?
GAA repeats
Ataxic GAAit
