Name that Genotype Flashcards Preview

Ann's M2M - Weeks 3, 4 > Name that Genotype > Flashcards

Flashcards in Name that Genotype Deck (17):
0

del(15q11-q13) maternal

Angelman syndrome
seizures
intellectual disabilities

1

del(22q11.2)

DiGeorge syndrome or Velo-Cardio-Facial syndrome
depends on the extent of the deletion

DiGeorge: absent or hypoplastic thymus & parathyroids (T-cell issues; infections); congenital heart disease
Velo-Cardio-Facial: cleft palate, lateral nasal buildup, cardiac septal defects

2

del(15q11-q13) paternal

Prader-Willi syndrome
hypotonia, hypopigmentation
hypogenitalism, obesity

3

del(5p15.2)

Cri du chat syndrome
microcephaly, characteristic cry, seizures
intellectual disabilities

terminal or interstitial deletion on short arm of chr 5
resulting in haploinsufficiency in 5p15.2
cat cry = del(5p15.3)

4

Mutation at location 5q13
(long arm of chromosome 5 at position 13)

Spinal Muscular Atrophy
SMA1 and SMA2 located here.
Mutation in SMA1 (deletion at exon 7 or SNP)

5

Copy number variations in DUF1220 (across different species) is associated with what trait? On what chromosome/location is this gene found?

Brain Size
1q21

6

47, XXY

Klinefelter syndrome
tall stature, hypogonadism, gynecomastia, language impairment
Sterility (common)

7

45, X

Turner Syndrome
Short stature, webbed neck, edema of hands & feet, broad shield-like chest, narrow hips, renal & cardiovascular abnormalities, gonadal dysgenesis (Sterility; failure of ovarian maintenance)

8

t(15;17)(q22;q21)

Acute Promyelocytic Leukemia
PML-RARalpha fusion

PML = promyelocytic leukemia = tumor supressor gene; zinc-finger family
RARalpha = retinoic acid receptor alpha
forms heterodimer with RXR and represses trxn

9

t(9;22)(q34;q11)

ABL-BCR fusion

CML
treat with tyrosine kinase inhibitor gleevec
Philadelphia

10

46 XX, t(8;21)(q22;q22)[20]

Acute Myelogenous Leukemia
AML-M1/M2

children with this leukemia are treated with chemotherapy ; no differentiation therapy available.

11

idic15q

inverted, duplicated, isodicentric 15q

Autism, hypotonic, seizures (not dysmorphic)
intellectual disabilities are more severe

12

15q interstitial duplication

If maternally duplicated: Autism, seizures, severe intellectual disability, mild hypotonia

If paternally duplicated: phenotype is normal

13

15q deletion in PWSAS region on the maternal allele

Angleman's syndrome

mildly dysmorphic, hypotonia in infancy, spasticity in older pts
intellectual disabilities, seizures autism, microcephaly

14

del(17p11.2)

Charcot-Marie-Tooth disease

PMP22 peripheral myelin protein
muscle wasting
hammer toe

15

del(17p11.2)

Charcot-Marie-Tooth disease

PMP22 peripheral myelin protein
muscle wasting
hammer toe

16

loss of PMP22 gene (or mutations of it)

del(17p12)

Heriditary Neuropathy with liability to pressure palsies
Autosomal Dominant
age of onset usually mid 20s
limbs "fall asleep"
numbness, tingling, pasly - minutes to days to months in length per episode - in response to pressure on the nerves
PMP22 gene - peripheral myelin protein 22