Deletion/Duplication Flashcards
[Gene/Chr del/5p]
Characteristics of 5p deletion (Cri du chat syndrome)? (6)
- High-pitched cry
- Facial features: hypertelorism, low-set ears, micrognathia,
- Low birth weight
- Intellectual disability, microcephaly
- Hypotonia
- Heart defect
[Gene/Chr del]
Genetic cause of Wolf-Hirschhorn syndrome?
Heterozygous deletion of the Wolf-Hirschhorn syndrome critical region (WHSCR)
on chromosome 4p16.3
[Gene/Chr del/4p]
Name of the syndrome with ‘greek warrior helmet’ face and Characteristics? (5)
4p deletion syndrome (Wolf-Hirschhorn syndrome)
- Growth: prenatal-onset, postnatal growth retardation
- Neuro: hypotonia with muscle underdevelopment, developmental delay/intellectual disability, seizures,
- Auditory: hearing loss (mostly conductive)
- Skeletal: skeletal anomalies (60%-70%)
- Heart: congenital heart defects (~50%)
[Gen/Microdel]
Name of syndrome?
With cocktail party personality, short stature
Williams syndrome (del 7q11.23)
[Gen/Microdel]
7q11.23 deletion causes?
Williams Syndrome
[Gen/Microdel/Williams]
Facial characteristics of Williams syndrome (del 7q11.23)? (5)
- Broad forehead
- Periorbital fullness
- Shortened, upturned nose, flat nasal bridge
- Elongated philtrum
- Down-turned lower lip, wide mouth with full lips
[Gen/Microdel/Williams]
Eye findings of Williams (7q11.23)? (2)
- Stellate pattern of the iris
- Strabismus
[Gen/Microdel/Williams]
Neurologic/behavioral characteristics of Williams (del 7q11.23) (3)
- Friendly
- Intellectual disability
- Hypersensitivity to sounds
[Gen/Microdel/Williams]
Heart anomalies Williams (del 7q11.23)?
Supravalvular aortic stenosis
[Gen/Microdel/Williams]
Endocrine/connective disorders of Williams (del 7q11.23) (3)
- Hypercalcemia
- Connective tissue disorder
- Growth delay and short stature
[Gen/Microdel/Williams]
Causal gene of connective disorder for Williams (del 7q11.23)
Elastin gene (ELN)
[Gen/Microdel/WAGR]
WAGR (11p13 del) syndrome stands for?
Wilms tumor
Aniridia
Genitourinary malformation
Reduced intellectual abilities
[Gen/Microdel/WAGR]
Gene Deletion of WAGR syndsrome?
11p13
[Gen/Microdeletion]
Deletion of 11p13 causes?
WAGR syndrome
[Gen/Microdel/WAGR]
Causal genes for WAGR syndrome (del 11p13)? (2)
PAX6
WT1 (wilms tumor 1)
[Gen/Microdel/WAGR]
___ % of WAGR patients develop wilms tumor by ___ years old
50 % of WAGR patients develop wilms tumor by 3 years old
[Gen/Microdel/WAGR]
Genital anomalies of WAGR syndrome (del 11p13)? (5)
- Hypospadias
- Cryptorchidism
- Small penis
- Hypoplastic scrotum
- Gonadoblastoma
[Gen/Microdel/WAGR]
Facial characteristics of WAGR syndrome (del 11p13)? (5)
- Long face
- Upward-slanting palpebral fissures
- Ptosis
- Beaked nose
- Poorly formed ears
[Gen/Microdel]
Most common microdeletion syndrome?
Del 22q11.2 (DiGeorge)
[Gen/Microdel/22q11]
CATCH22 mnemonic for 22q11 deletion (DiGeorge)
Cardiac defect
Abnormal facies
Thymic hypoplasia (immune deficiency)
Cleft defects
Hypocalcemia (parathyroid gland hypoplasia)
22q11.2 deletion syndrome
De novo vs inherited (%)
De novo: 90 %
Inherited: 10 %
Responsible gene for 22q11.2 deletion syndrome
TBX1
[Gen/Microdel/22q11]
What defect in fetal development causes 22q11.2 deletion (DiGeorge) phenotypes?
3rd and 4th pharyngeal pouches
(Abnormal development of the pharyngeal arches related to TBX1 dosage)
[Gen/Microdel/22q11]
Cardiac defects of 22q11.2 deletion (DiGeorge) (from the most common) (4)
- TOF
- Interrupted aortic arch
- VSD
- Truncus arteriosus
[Gen/dup/CES]
Characteristics of cat eye syndrome (5)?
- eyes (iris coloboma)
- ears (preauricular pits and/or tags)
- anal region (anal atresia)
- heart and kidneys
- Intellectual disability (mild or borderline normal)
[Gen/dup/CES]
Cause of cat eye syndrome (2)?
2/3: partial tetrasomy of 22pter-22q11(small supernumerary bisatellited marker chromosome)
1/3: this extra chromosome in mosaicism
