General genetics / metabolic 3

Question 1

1p36 deletion
aka
features

Answer 1

• monosomy 1p

- short, obese, microcephaly, DD, clefting, self-injury

Question 2

What is the most common terminal deletion syndrome?

Answer 2

1p36 deletion

Question 3

Wolf-Hirshhorn
aka
features

Answer 3

• 4p-

- “Greek warrior helmet”; pre- and post-natal growth deficiency; hypotonia; ID

Question 4

Smaller deletions in what syndrome are called Pitt-Rogers-Danks?

Answer 4

Wolf-Hirshhorn

Question 5

Cri du chat
aka
features

Answer 5

• 5p-

- cat cry; microcephaly; ID; delayed motor development; hypotonia

Question 6

Sotos
aka
features
cause

Answer 6

• 5q35 deletion
• malar flushing; sparse frontotemporal hair; narrow jaw; overgrowth; ID
• 95% are de novo Japanese microdeletions; non-Japanese are mostly NSD1 mutations

Question 7

Williams
aka
features
cause

Answer 7

• 7q11.23 deletion
• friendly personality; heart findings; rectal prolapse; ID; hypotonia
• ELN gene deleted OR unaffected parent with chromosome 7 inversion

Question 8

WAGR
aka
features

Answer 8

• 11p13 deletion

- Wilms tumor; Aniridia; Genitourinary anomalies; MR

Question 9

Jacobsen
aka
features

Answer 9

• 11q terminal deletion

- trigonocephaly; macrocephaly; various dysmorphic features

Question 10

Smith-Magenis
aka
features

Answer 10

• 17p11.2 deletion

- hypotonia; self-injurious behavior; sleep disturbances; inserting object into body orifices

Question 11

Miller-Dieker
aka
features

Answer 11

• 17p13.3 deletion

- lissencephaly; severe neurologic abnormalities and ID

Question 12

18p-

features

Answer 12

-growth deficiency; hypotonia; microcephaly; large ears; ID

Question 13

18q-

features

Answer 13

-CHD; orthopedic anomalies; ID; demyelination on MRI

Question 14

22q11.2 duplication

features

Answer 14

-mild and highly variable: normal to LD to MR

Question 15

IMAGe syndrome
features
gene(s)
inheritance

Answer 15

• IUGR
• Metaphyseal dysplasia
• Adrenal hypoplasia
• Genital anomalies
• caused by maternal CDKN1C mutations
• imprinting disorder

Question 16

Carney complex
features
gene(s)
inheritance

Answer 16

• increased risk of benign tumors; changes in skin pigmentation; symptom onset in teens or early adulthood
• PRKAR1A gene
• AD inheritance

Question 17

Meckel-Gruber syndrome
features
gene(s)
inheritance

Answer 17

• occipital encphalocele; large polycystic kidneys; postaxial polydactyly; lethal
• several MKS_ genes
• AR inheritance

Question 18

Hurler syndrome
features
gene(s)
inheritance

Answer 18

• aka MPS II
• onset of severe symptoms around age 2
• IDUA gene
• AR inheritance

Question 19

Name 6 craniosynostosis syndromes associated with mutations in FGFR2

Answer 19

• Pfeiffer
• Apert
• Crouzon
• Jackson-Weiss
• Beare-Stevenson
• Isolated cranial synostosis

Question 20

Name 4 craniosynostosis syndromes with normal intellect

Answer 20

• Crouzon
• Jackson-Weiss
• Crouzon w/acanthosis nigricans
• Isolated cranial synostosis

Question 21

OI type 1

Answer 21

-classic non-deforming w/blue sclerae

Question 22

OI type 2

Answer 22

-perinatally lethal

Question 23

OI type 3

Answer 23

-progressively deforming

Question 24

OI type 4

Answer 24

-common variable w/normal sclerae

Question 25

OI (all types)
gene(s)
inheritance

Answer 25

• COL1A1/2

- AD inheritance

Question 26

Which metabolic condition involves a “sweaty feet” smell?

Answer 26

isovaleric acidemia