Genetics
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1
Digeorge Syndrome is a genetic condition caused by...
Deletion in the 22q11.2 Gene
2
Digeorge Syndrome S/S mnemonic
CATCH- 22
C- Cardiac
A- Abnormal Facies
T- Thymus hypoplasia
C- Cleft palate
H- Hypocalcemia
C- Cardiac
A- Abnormal Facies
T- Thymus hypoplasia
C- Cleft palate
H- Hypocalcemia
3
Digeorge Syndrome lab results
- Reduced T cell number/function
- Hypocalcemia
- Low parathyroid hormone levels
- Hypocalcemia
- Low parathyroid hormone levels
4
Achondroplasia is a ______ genetic d/o caused by ______; resulting in _____
- Autosomal dominant
- Gain of function mutation in FGFR3 gene
- Dwarfism w/ disproportionate short stature --> Norm. torso, short limbs, norm.-large head (macrocephaly) w/ prominent forehead
- Gain of function mutation in FGFR3 gene
- Dwarfism w/ disproportionate short stature --> Norm. torso, short limbs, norm.-large head (macrocephaly) w/ prominent forehead
5
Complications of Achondroplasia include ______, Narrowing of ______ & _____, ______, ______, & ______
- Eustachian tube narrowing: recurrent middle ear infection
- Narrowing of Lumbar spinal canal ( spinal stenosis) & Foramen Magnum ( cervical medullary compression.
- Venous obstruction at sigmoid sinus: hydrocephalus
- Midface retrusion: OSA
- Obesity
- Narrowing of Lumbar spinal canal ( spinal stenosis) & Foramen Magnum ( cervical medullary compression.
- Venous obstruction at sigmoid sinus: hydrocephalus
- Midface retrusion: OSA
- Obesity
6
Achondroplasia prenatal US will show...
Skull width to femur length ration higher than normal
7
_____ is a new tx for achondroplasia that's used to ________
- Voxzogo
- Inc. height
- Inc. height
8
Alagille syndrome is an ________ genetic d/o caused by ______ that results in _______, ______, _____, _____, & ______ defects
- Autosomal dominant
- JAG1 or NOTCH2 gene deletion/mutation
- Liver, skeletal, ocular, cardiac, & renal
- JAG1 or NOTCH2 gene deletion/mutation
- Liver, skeletal, ocular, cardiac, & renal
9
Diagnostic imaging for Alagille syndrome include ______ that shows _______ & _____ that shows _____
- Spinal Xray: Butterfly shaped vertebrae, hemivertebrae, & spinabifida occulta
- Abdominal US: kidneys- small, echogenic, cysts present, ureteropelvic obstruction
- Abdominal US: kidneys- small, echogenic, cysts present, ureteropelvic obstruction
10
Alagille syndrome lab results
- Inc. bilirubin (total, conjugated)
- Inc. liver enzymes
- Inc. cholesterol
- Inc. liver enzymes
- Inc. cholesterol
11
Beckwith-Wiedemann Syndrome is caused by abnormal _______
- Methylation at chromosome 11p15.5
12
Beckwith-Wiedemann Syndrome increses the risk of _____, ______, and other _____
- Wilms Tumor, Hepatoblastoma, and other tumors
13
Angelman syndrome is a genetic ______ d/o caused by _______, _______, or _______
- Maternal 15q11-q13 deletion
- Loss of function of UBE3A
- Paternal uniparental disomy 15 (both copies of chromosome 15 from father)
- Loss of function of UBE3A
- Paternal uniparental disomy 15 (both copies of chromosome 15 from father)
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