this is an X-linked dominant condition

this is an autosomal dominant condition

true about autosomal dominant conditions

Why is there NO Y-linked inheritance?

enzyme affected in Tay-Sachs disease

Cell membrane affected in Hereditary spherocytosis EXCEPT?

Marfan syndrome results from an inherited defect in an extracellular glycoprotein called?

human genetic disorder with low penetrance

true about sickle cell mutation?

the ABO O allele is an example of what type of mutation?

this refers to a single mutant gene that may lead to many end effects

this makes up the largest category of mendelian disorders and includes almost all inborn errors of metabolism

this condition is due to mutations involving FBN2 gene which encodes for fibrillin-2, it is characterized by skeletal abnormalities

what is the most striking feature of marfan syndrome?

what portion of the eye is usually affected in marfan syndrome?

what is the most frequent cardiac anomaly in marfan syndrome?

what is the common mutation observed among Ehlers-Danlos syndrome, osteogenesis imperfecta, Alport syndrome, and epidermolysis bullosa?

this type of ehlers-danlos syndrome is also known as "classic type"

this form of ehlers-danlos syndrome is prone to have ocular fragility with rupture of cornea and retinal detachment, it is also the most common autosomal recessive form

the gene defects in this form of ehlers-danlos syndrome is unknown

this type of LDL receptor mutation is regarded as null allele wherein there is complete failure of synthesis of the LDL receptor

Class III LDL receptor mutation affects binding with what apolipoprotein

Class of LDL receptor mutation which resulted in the failure of initial targeting of the LDL receptor to the basolateral membrane?

what is the least common mutation (1-2%) in familial hypercholesterolemia

this term refers to mitochondrial turnover which is designed to degrade dysfunctional mitochondria

virtually all patients with Gaucher disease will develop this condition

Tay-Sachs disease is a lysosomal storage disease involving?

Tay-Sachs disease is caused by a deficiency of Beta-hexosaminidase resulting in inability to catabolize GM2 ganglioside. What isoenzyme of Beta-hexosaminidase is affected in Tay-sachs disease?

this is an expected neuronal findings under light microscope in Tay-sachs disease

this is a severe infantile form of niemann pick disease with extensive neurologic involvement

what is the major accumulating metabolite in niemann-pick disease

this is the most common lysosomal storage disorder

True about Gaucher disease

what is the most common type of gaucher disease?

mutation of what gene is the most common known genetic risk factor for the development of parkinson disease

true about mucopolysaccharidoses except

this is also known as MPS I-H which is due to deficiency of a-L-iduronidase

hepatic form of glycogenoses wherein liver cells store glycogen because of a lack of hepatic glucose 6 phosphatase

this form of glycogenoses is characterized by lack of muscle phosphorylase which gives rise to storage in skeletal muscles and cramps after exercise

the study of chromosomes is called karyotyping - the usual procedure is to examine chromosomes is to arrest them at what phase of cell division?

A variety of staining methods for chromosomal studies have been developed. The one most commonly used involves a Giemsa stain and is hence called G banding. The resolution obtained by banding can be markedly improved by obtaining the cells in what phase of cell division?

true about down syndrome except

this is characterized by microphthalmia, polydactyly, umbilical hernia, cleft lip and palate, renal defects, microcephaly and intellectual disability, and rocker bottom feet

hypocalcemia in DiGeorge syndrome is due to?

the classic klinefelter syndrome karyotype observed in 90% of cases

this is the most common sex chromosome abnormality in females

this is the most common genetic cause of intellectual disability in males and overall the second most common cause after down syndrome

deletion of the maternally derived chromosome 15 and presents with intellectual disability with ataxic gait, seizures and inappropriate laughter known as happy puppers

it uses DNA probes that recognize sequences specific to particular chromosomal regions. The probe hybridizes to its homologous genomic sequence and thus labels a specific chromosomal region that can be visualized under a fluorescent microscope

which of the following is not true regarding this case?

which of the following is not true regarding this case

what is the likely diagnosis

Which if the following is true about this case?

Which of the following is true regarding about those ovoid to spherical masses in the periphery of the glomeruli in between dilated capillary lumen?

NOT true about this lesion