Trisomy 21
"Rashes"?
Other
Cardiology
Other Aneuploidies
100
The most common cardiac defect in patients with Trisomy 21.
Endocardial cushion (AV canal) defects such as Ventricular Septal Defect
100
A 3 year old presents with the following finding. What is the disease and inheritance pattern?
Osteogenesis Imperfecta
Autosomal Dominant mutations in COLA1/2 which encodes for collagen
100
Gower's Sign is seen in this condition. The mode of inheritance is ___.
Duchenne Muscular Dystrophy
X-linked autosomal recessive deletion of dystrophin gene.
Present with progressive weakness and calf pseudo-hypertrophy
Can have scoliosis and cardiomyopathy
100
17 year old male presents to establish care. he recently immigrated from Colombia and had limited care previously. On exam you observe these signs. What is the most common cardiac defect in this syndrome?
a)Aortic dilation, dissection or regurgitation
b)Mitral Valve Prolapse
Due to an Autosomal Dominant mutation in the fibrillin1 gene
100
Hyperphagia and paternal deletion in chromosome 15 are the defining features of this syndrome.
Prader Willi Syndrome
Hypotonia, weak suck, short stature, hypogonadism, Intellectual disability
200
This disorder is common in Trisomy 21 patients and presents with poor growth, weak cry and lethargy in infancy.
Hypothyroidism
Kids with T21 have 28x greater prevalence compared to general population.
Primary autoimmune etiology.
Thyroid panel would show ____ TSH and ___ T4.200
In this condition, most cases are secondary to a defect in the TYR gene that encodes for tyrosinase, an enzyme essential in the formation of ______.
Tyrosinase is needed for the production of melanin
200
A 3 month old male presents to your office with the following exam findings. In reviewing his chart you see that he has had 2 pneumonia infections since birth. What is the most likely syndrome?
Wiskott Aldrich Syndrome
200
A 16 year old female with a strong family history of MI under the age of 60, presents for a regular check up. You notice this on exam. What is the likely diagnosis and what is the inheritance pattern?
Familial Hypercholesterolemia
Autosomal dominant
200
Polydactylyl, cleft palate. holoproencephaly and low set ears are seen in this syndrome.
Trisomy 13 (Patau syndrome)
Due to the presence of several life-threatening medical problems (midline defects) , many infants with trisomy 13 die within their first days or weeks of life. Only five percent to 10 percent of children with this condition live past their first year.
300
A male with Trisomy21 is born at 40weeks genstation to a 39 yo G1P0 via c-section. While performing your newborn exam, what are the most common findings you would find on :
face? hands? feet?
Face: Oblique palpebral fissures, Big tongue , White spots on iris
Hands: Single Palmer Crease
Feet: Wide spaced 1st and 2nd toes
300
What is the name of this rash and what is syndrome is it associated with?
Port Wine Stain
Sturge Weber
intellectual disability, seizures, visual impairment due to capillary venous malformations.
300
A 17 year old male with a history of kyposcoliosis is admitted to the ICU after he is found to be in heart failure in the emergency room. His neuro exam is significant for areflexia and ataxic gait. This disorder _______, is due to trinucleotide ___ repeat expansion on chromosome 9.
Friedrich Ataxia
GAA
300
A 14 year old girl presents to your clinic and is found to have short stature, webbed neck and shield chest. What is the most common cardiac defect found in this patient?
Bicuspid Aortic Valve (15-30%)
Coarctation of the Aorta (7-18%)
300
In this genetic disorder, overlapping fingers and rocker bottom feet are commonly seen on exam.
Trisomy 18
also known as Edwards Syndrome
400
Infants with Trisomy 21 are at greater risk of this malignancy.
What is acute lymphoblastic leukemia (ALL) OR acute megakaryoblastic leukemia (AMKL)
AMKL has 500x increased risk (very rare in gen population)
ALL has 20x increased risk.
400
Mom brings in her 2 year old after she notices these two spots on her child's legs. What is this lesion called and what is it associated with?
Ash leaf spot
Tuberous Sclerosis
Most common Neurocutaneous disorder (after NF), brain hamartomas. Hypo pigmented ash leaf spots and shagreen patches
400
A 4 month old presents to her pediatrician for difficulty feeding. On exam you note she is hyper reflexive and you see this finding on the retina
What is the name of this disorder and what is the inheritance pattern?
- Neimann Pick - AR, Ash Jewish, onset 2-6 mo | Sphingomyelinase deficiency |loss od motor milestones, hypotonia, feeding diff, cherry red macula, hepatosplenomegaly, areflexia
- Tay-Sachs - AR, Ash Jewish, onset 2-6 mo | B-hexosaminidase A deficiency | loss of motor milestones, hypotonia, feeding difficulties, cherry red macula, hyperreflexia
400
Patients with DiGeorge Syndrome are at greater risk for this cardiac constellation that includes a boot shaped heart.
Tetrology of Fallot
400
In this syndrome, patients are commonly described as having "Elfin facies" and a friendly demeanor with strangers.
Williams syndrome
Microdeletion in chromosome 7q
also may have cardiovascular problems and hypercalcemia (due to increased sensitivity to vitamin D)
500
Prenatal "Quad" testing and ultrasound will likely reveal the following findings:
AFP ______
Estriol _____
hCG _____
Inhibin A _____st trimester Ultrasound _____
AFP low
Estriol low
hCG high
Inhibin A high
Ultrasound - Nuchal translucency (>3mm)
500
This skin finding is part of the Triad (along with fibrous dysplasia of bone and precocious puberty) in what genetic disorder?
Café-au-lait skin spots
McCune Albright Syndrome
500
A newborn with newly diagnosed sickle cell disease presents to you office for a newborn visit. Mom asks what are the chances that her future kids will also have sickle cell anemia?
Mom is a carrier and had has the disease.
50%
500
Teenagers with this disorder present with facial weakness, hand grip myotonia and unfortunatley will pass from cardiomyopathy.
Myotonic Dystrophy
Autosomal Dominant expansion of CTG trinucleotide in DMPK gene on 19q
500
In this syndrome, thymic dysplasia leads to T cell deficiences and subsequent vulnerbility to viral and fungal infections.
Di George syndrome
- 22q11.2 deletion -defective development of pharyngeal pouches
- Conotruncal cardiac defects (TOF, truncus arteriosus, interrupted aortic arch)
- Abnormal facies
- Thymic hypoplasia/aplasia (T cell deficiency à fungal and viral infections)
- Craniofacial deformities (cleft palate)
- Hypocalcemia/hypoparathyroidism à seizures, spasms