Genetics
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1
Digeorge Syndrome is a genetic condition caused by _____ resulting in...
- Deletion in the 22q11.2 Gene
- in absence or hypoplasia of the parathyroid gland which can lead to hypocalcemia resulting in seizures
- in absence or hypoplasia of the parathyroid gland which can lead to hypocalcemia resulting in seizures
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
Dysmorphic facial features characteristic of DiGeorge syndrome include _______. ______ is common in infancy
- low-set ears, micrognathia, and hypertelorism
- Hypotonia
- Hypotonia
4
Digeorge Syndrome lab results
- Reduced T cell number/function
- Hypocalcemia
- Low parathyroid hormone levels
- Hypocalcemia
- Low parathyroid hormone levels
5
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
6
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
7
Achondroplasia prenatal US will show...
Skull width to femur length ration higher than normal
8
_____ is a new tx for achondroplasia that's used to ________
- Voxzogo
- Inc. height
- Inc. height
9
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
10
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
11
Alagille syndrome lab results
- Inc. bilirubin (total, conjugated)
- Inc. liver enzymes
- Inc. cholesterol
- Inc. liver enzymes
- Inc. cholesterol
12
Beckwith-Wiedemann Syndrome is caused by abnormal _______
- Methylation at chromosome 11p15.5
13
Beckwith-Wiedemann Syndrome increses the risk of _____, ______, and other _____
- Wilms Tumor, Hepatoblastoma, and other tumors
14
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)
15
Which of the following characteristics are associated with the diagnosis of Williams syndrome?
Kline, Andrea M.; Haut, Catherine. Lippincott Certification Review: Pediatric Acute Care Nurse Practitioner (pp. 1445-1446). Wolters Kluwer Health. Kindle Edition.
Kline, Andrea M.; Haut, Catherine. Lippincott Certification Review: Pediatric Acute Care Nurse Practitioner (pp. 1445-1446). Wolters Kluwer Health. Kindle Edition.
Hypertelorism, long philtrum, wide mouth, small upturned nose cardiac defects including aortic stenosis and pulmonary stenosis.
16
In providing genetic counseling for parents who are expecting an infant who has a prenatal diagnosis of trisomy 18, most important information should include:
Life expectancy is typically not beyond 1 year of life.
17
In planning discharge for a toddler with DiGeorge syndrome, which of the following should be included in the cont. management plan?
- Hearing screen. increased risk of developing conductive hearing loss due to cleft palate and recurrent otitis media.
18
A newborn with DiGeorge syndrome presents with cyanosis, hypoxia, and poor perfusion. What is the most likely cause of these symptoms?
Tetralogy of Fallot
19
9. A school-age boy presents with speech delays, aggressive behavior, a long face with prominent jaw, and macroorchidism. What disorder should be included in your differential diagnoses?
Fragile X syndrome.
20
A 3-week-old infant is born with anal atresia, esophageal atresia, and malformations of both arms. This combination of malformations is most likely to be:
VACTERL/VATER association.
21
CHARGE syndrome is a genetic pattern of birth defects which include
- coloboma of the eyes, choanal atresia or stenosis, cranial nerve involvement, outer, inner, and middle ear abnormalities, cardiac defects, cleft lip and palate
- hearing loss and outer ear abnormalities, such as the outer ear appearing wide, low, and with no earlobe
- hearing loss and outer ear abnormalities, such as the outer ear appearing wide, low, and with no earlobe
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