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[h] Biochemistry Flashcards

[i] Master this session in just 5 minutes.

[q] 95% of Down syndrome cases are due to ………?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IE1laW90aWMgbm9uZGlzanVuY3Rpb24uIE5vbmRpc2p1bmN0aW9uIGlzIGFsbW9zdCBhbHdheXMgb2YgbWF0ZXJuYWwgb3JpZ2luOyBpbmNyZWFzZWQgbWF0ZXJuYWwgYWdlIGlzIGEgcmlzayBmYWN0b3Iu[Qq]

[q] The most common viable chromosomal disorder and most common cause of genetic intellectual disability is ………..?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IERvd24gc3luZHJvbWUgKHRyaXNvbXkgMjEpLg==[Qq]

[q] What is the most likely diagnosis?

5 years old patient presenting with intellectual disability, flat facies, small mouth, slanted palpebral fissures, prominent epicanthal folds, single palmar crease, gap between 1st 2 toes, and Brushfield spots?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IERvd24gc3luZHJvbWUgKHRyaXNvbXkgMjEpLg==

[q] The most common Cardiac defects in Down syndrome is ……..?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IEVuZG9jYXJkaWFsIGN1c2hpb24gZGVmZWN0IChhdHJpb3ZlbnRyaWN1bGFyIHNlcHRhbCBkZWZlY3QpIGFuZCB2ZW50cmljdWxhciBzZXB0YWwgZGVmZWN0IG1vc3Qgb2Z0ZW4gc2Vlbi4=[Qq]

[q] Gastrointestinal tract abnormalities are also identified in 10-15% of this patient population, and include ………..?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IGR1b2RlbmFsIGF0cmVzaWEsIEhpcnNjaHNwcnVuZyYjODIxNztzIGRpc2Vhc2UsIGFuZCB0cmFjaGVvZXNvcGhhZ2VhbCBmaXN0dWxhLg==[Qq]

[q] The extra copy of APP present in Down syndrome is thought to accelerate ……… and lead to ………..?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IGFteWxvaWQgYWNjdW11bGF0aW9uLCBlYXJseS1vbnNldCBBbHpoZWltZXImIzgyMTc7cyBkZW1lbnRpYS4=[Qq]

[q] Individuals with Down syndrome have a 10- to 20-fold increased risk of developing acute lymphoblastic leukemia, and their risk for developing ………. is also increased.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IGFjdXRlIG15ZWxvZ2Vub3VzIGxldWtlbWlhLg==[Qq]

[q] A finding of low AFP on triple test and ↑ nuchal translucency and hypoplastic nasal bone on ultrasound is associated with a diagnosis of ……… and is therefore an indication for amniocentesis for Karyotyping of fetal cells contained in amniotic fluid.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IERvd24gc3luZHJvbWUu[Qq]

[q] What is the most likely diagnosis?

3 months child presenting with Prominent occiput, Rocker-bottom feet, Intellectual disability, Nondisjunction, Clenched fists (with overlapping fingers), low-set Ears, micrognathia (small jaw), congenital heart disease, omphalocele?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IEVkd2FyZHMgc3luZHJvbWUgKHRyaXNvbXkgMTgpLg==[Qq]

[q] What is the most likely diagnosis?

2 months child presenting with Severe intellectual disability, rocker-bottom feet, microphthalmia, microcephaly, cleft liP/Palate, holoProsencephaly, Polydactyly, cutis aPlasia (congenital abscense of the skin), congenital heart disease, Polycystic kidney disease, omphalocele?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IFBhdGF1IHN5bmRyb21lICh0cmlzb215IDEzKS4=

Jm5ic3A7

[Qq]

[q] What is the most likely diagnosis?

4 years old child presenting with Microcephaly, moderate to severe intellectual disability, high-pitched crying/ meowing, epicanthal folds, and VSD.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IENyaS1kdS1jaGF0IHN5bmRyb21lLg==[Qq]

[q] What is the most likely diagnosis?

Distinctive “elfin” facies, intellectual disability, hypercalcemia (↑ sensitivity to vitamin D), well-developed verbal skills, extreme friendliness with strangers, and supravalvular aortic stenosis.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IFdpbGxpYW1zIHN5bmRyb21lLg==[Qq]

[q] What is the most likely diagnosis?

4 years old patient presenting with recurrent infections, absent thymic shadow, Hypocalcemia, and tetralogy of Fallot?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IERpR2VvcmdlIHN5bmRyb21lLg==[Qq]

[q] What is the most likely diagnosis?

12 years old patient presenting with Cleft palate, Abnormal facies, and tetralogy of Fallot?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IFZlbG9jYXJkaW9mYWNpYWwgc3luZHJvbWUu[Qq]

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