Down, Prader-Willi, & Turner Syndrome

Question 1

In which trimester of gestation can a quad screen identify the risk of having a baby with trisomy?

Answer 1

(Early) 2nd Trimester

Question 2

At what point during gestation can an amniocentesis be performed to determine the baby’s karyotype?

Answer 2

16 weeks

Question 3

What test is used for high risk trisomy pregnancies and when can it be performed?

Answer 3

Chorionic villus sampling at 11-12 weeks

Question 4

What are some of the phenotypes see in with Trisomy 21?

Answer 4

Brachecephaly
Mid-face hypoplasia
Up-slanting palpebral fissures
Epicanthal folds
Brushfield spots
Dysplastic small pinnae
Potentially: Heart murmurs, abnormal genitalia, incurving 5th finger, small digits, increased space between 1st and 2nd toes, increased joint ROM, disuse hypotonia

Question 5

What are some of the medical problems associated with Trisomy 21?

Answer 5

• Congenital heart disease (33-50%), endocardial cushion defect aka atrioventricular canal
• GI tract defects (10-15%), esophageal/duodenal atresias
• Other: small tear ducts, small eustachion tubes, small airway, eye problems, ear problems, thyroid problems, celiac disease, diabetes, feeding issues, GERD, constipation, intellectual disabilities, autism, depression, AD

Question 6

What are some of the developmental and behavioral phenotypes of Trisomy 21?

Answer 6

Intellectual disabilities
Decreased IQ
Increased risk of depression

Question 7

What is the chromosomal abnormality associated with PWS (Prader-Willi Syndrome)?

Answer 7

A deletion of 15q11-q13 from the paternal allele

Question 8

What is the role of imprinting in disorders involving chromosome 15?

Answer 8

If there is an imprinting error, chromosomes will be marked incorrectly => PWS or Angelman syndrome

Question 9

What are some of the physical phenotypes seen with PWS?

Answer 9

Infant: floppy child, undescended testicles, lighter pigmentation, almond shaped eyes, severe feeding problems

Toddlers: feeding becomes voracious, obesity, strabismus (cross-eyed/wall-eyed), nysagmus (fast, uncontrolled eye movement)

Question 10

What are some of the medical problems associated with PWS?

Answer 10

Eye problems
Scoliosis
Obstructive sleep apnea
Obesity

Question 11

What are the developmental/behavioral phenotypes of a patient with PWS?

Answer 11

Mild-moderate cognitive disabilities

Behavioral issues

Question 12

What are the clinical presentations of patients with Turner Syndrome?

Answer 12

• Short stature, webbed neck, widely spaced nipples, underdeveloped breasts, pectus excavatum
• Eyes: inner canthal folds, blue sclerae, ptosis
• Ears, mouth & nose: prominent auricles, low-set, high narrow mouth, small mandible
• Neck: low posterior hairline
• Skeletal: cubitus valgus, short 4th metacarpal/tarsal, madelung deformity, scoliosis

Question 13

What are some of the lifelong challenges for patients with Turner Syndrome?

Answer 13

Trouble with math
Short stature
Late development of sexual characteristics
Infertility

Question 14

What are the pitfalls of the medical culture in dealing with patients with Turner Syndrome?

Answer 14

Secret keeping
Difficulty communicating an infertility diagnosis
Perceived negative experiences with physicians