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Genetic Disease

Terms in this set (80)

DM
Most common metabolic disorder that has teratogenic effect.
Prader willis syndrome
Chromosomal deletion of paternally derived chromosome 15 and with normal maternally derived chromosome.
Angelman syndrome
Microdeletion on the maternal chromosome 15 and a normal paterrnal chromosome 15.
Angelman syndrome
Marionette like movement.
Absent speech with inappropriate laughter.
Happy puppet syndrome.
Pickwickian syndrome
Obesity related obstructive sleep apnea and cardiorespiratory complication.
Fragile x syndrome
Trinuceotide repeat disorder.

CGG is repeated 200x at the start of the gene. Normal is 30.
Fragile X syndrome
Macrosomic baby.
Macroorchidism due to testicular edema.
Dysmorphic facial features (large jaw and large ears).
MR.
Di george syndrome
Absent Thymus.
Hypocalcemia.
Hypoparathyroidism.
T-cell mediated immune deficiency.
Palate abnormalities.

22q11.2 deletion syndrome.
Coloboma
Heart abnormalities
Atresia of the choanae
Retarded growth
Genital hypoplasia
Ear abnormalities
CHARGE syndrome
Vertebral defect
Anal anomalies
Cardiac defect
TEF
Esophageal atresia
Renal or Radial abnormalities
Limb defect (radial)
VACTERL
Galactosemia
Galactose-1-phosphate uridyltransferase deficiency.
PKU
Phenylalalnine hydroxylase deficiency.
PKU
Mousy odor urine
Homocystinuria
Cystathionine synthase deficiency
Homocystinuria
Increased methionine in the blood.
Endocardial cushion defect
MC cardiac anomaly in trisomy 21.
ALL
Trisomy 21 is at risk of what malignancy?
Klinefelter syndrome
XXY
Turner syndrome
XO
Omphalocele
GI anomaly in trisomy 18
Doudenal atresia
GI anomaly in trisomy 21.
Horseshoe kidney and double renal pelvis
Renal anomaly in turner syndrome
Fragile X
MC cause of MR in boys.
Beckwith-Wiedemann Syndrome
IGF is disrupted at 11.p15.5
Fetal adrenocortical cytomegaly - consistent feature.
Pierre Robin
Mandibular hypoplasia
Micrognathia
Glossoptosis
Cleft soft palate
Waardenburg syndrome
Lateral displacement of inner canthi with short palpebral fissures.
Partial albinism.
White forelock.
Deafness.
Marfan syndrome
Mutation of fibrillin gene (FBN1) 15.q21.1
Marfan syndrome
Tall with long slim limbs and little fat.
Arachnodactyly.
Lens subluxation (upward, defect in suspensory ligament)
Dilatation of ascending aorta.
Ehlers danlos syndrome
Hyperextensible skin, fragile, easy bruisability, poor wound healing.
Joint hyperlaxity.
Aortic root dilatation.
Blue sclera.
Ectopia lentis.
Retinal detachment.
Osteogenesis imperfecta
...
Alcohol
Most common teratogen to which fetus can be exposed.
Fetal hydantoin syndrome
Exposure to the ffg:
Carbamazepine, valproate, primadone, phenobarbital

Hirsutism, cupid's bow lips.
Potter syndrome
Renal agenesis, dysgenesis
Oligohydramnios
Pulmonary hypoplasia
Autosomal dominant.
Heterozygous
Reduced penetrance
Variable expressivity
Delayed onset
Reduced production or inactive protein.
Autosomal recessive
Homozygous
Complete penetrance
Early in life
Loss of function
Inborn of error of metabolism
APKD

APKD1
Bilateral massive enlargement of kidney due to multiple large cysts.

Mutation of?
Von hippel lindau syndrome
Hemangioblastoma or cavernous hemangioma of cerebellum, brain stem or retina.
Renal cell carcinoma
Internists tumor.
Resistant to chemo and radio.
VHL syndrome
Hereditary papillary renal carcinoma
Familial renal oncocytoma
Hereditary renal carcinoma
Four hereditary syndromes associated with renal cell carcinoma
Raised transepithelial electric potential deifference
Diagnostic biophysical hallmark of cystic fibrosis
Staph aureus and pseudomonas infection
Cystic fibrosis patient is predispose to what kind of infections?
Familial hypercholesterolemia
LDL receptor defect
Familial hypercholesterolemia
Xanthomas
Early development of atherosclerosis
MI by 30
Huntingtons
CAG triple repeat disorder
Friedrich Ataxia
GAA triple repeat disorders
Myotonic Dystrophy
CTG triple repeat syndrome
Bruton's agammaglobulinemia
Mutation in Cytoplasmic tyrosine kinase
IgA deficiency
MC primary immunodeficiency
Di george syndrome
Deletion of a gene maps to chromosome 22q11
Severe combined immunodeficiency
ADA deficiency (adenosine deaminase)
Wiskott aldrich syndrome
Immunodeficiency accompanied by Thrombocytopenia and eczema.

Low IgM.
C2
Most common complement deficiency.
MAC deficiency
Repeated gonoccocal infection
C1 deficiency
Hereditary angioedema
C2 deficiency
SLE like autoimmune disease.
Kartageners syndrome
Dynein arm defect
Reiter's syndrome
Seronegative spondyloarthropathy

Triad:
Uveitis
Urethritis
Arthritis

HLA B27
Wilsons disease
Hepatolemticular degeneration
Congenital hypothyroidism
MC preventable cause of MR.
Down syndrome
Meiotic non disjunction
Down syndrome
Brushfield spot
Burkitts lymphoma
t8:14
Philadelphia chromosome
t9:22
Burkitt's lymphoma
C-myc
Burkitts lymphoma
Sheath of lymphocyte
Starry sky appearance
21
Down syndrome and alzheimmers disease is associated with what chromosome?
22q11.2
Di george syndrome, chromosome?
Di george syndrome
DELETION of 22q11.2
Sickle cell
Point mutation.
Glutamate to valine point mutation.
FISH
Standard karyotyping for detection of chromosome 22q.11.2 deletion syndrome.
VSD
MC septal deffect in children?
ASD
MC Septal defect in adult
Osteum primum
MC Type of VSD in down syndrome?
Osteum secundum
MC type of VSD
Huntingtons autosomal dominant
MC triple repeat disorders
APKD 1
Gene mutation for APKD
APKD and alpha thalassemia
Choromosome 16
Phenotypic heterogenicity
Hallmark of APKD
Aysmptomatic
MC symptom of APKD
Hepatic cyst
MC extrarenal congenital anomaly associated with APKD.
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