Genetics Flashcards
PAX 2 gene is associated with ____
Renal-Coloboma syndrome
CHD7 mutation is associated with _____
Charge syndrome
ATP7B associated with _____
Wilson’s disease
SERPINA 1 related to ______
Alpha 1 antitrypsin deficiency
UBE3A related to ______
Angelman syndrome
DHCR7 related to ____
Smith-Lemli-Opitz Syndrome
Abnormal architecture of the vitreous gel is pathognomonic of _____
Stickler syndrome
Usher syndrome is associated with hearing loss but also _______________
ataxia and retinitis pigmentosa
Children with Pendred syndrome have a _______ associated with deafness
Goitre
Features of Alport syndrome are ______, ______ and _______
Features of Alport syndrome are nephritis, deafness and retinitis.
Describe the syndrome:
1 in 16,000 live births, Holoprosencephaly, cutis aplasia, midline defects, microphthalmia, coloboma, polydactyly/clenched hand
Trisomy 13 - Patau Syndrome
Describe the syndrome:
1 in 8,000 live births,
Hypertonia, arthrygrpossis, Rocker-bototm feet, overlapping fingers, omphalocoele, diaphragmatic hernia, severe mental retardation
Trisomy 18 - Edwards Syndrome
Describe the syndrome:
1in 2,000
Short stature, broad chest, low posterior hairline, webbed neck..
Name two other features and the most common congenital heart condition
Turner Syndrome - XO
Cubitus Valgus, Infertility, Wide spaced nipples
35% with CHD. Most commonly bicuspid aortic valve with early stenosis and later on aortic regurgitation
Describe the syndrome:
1 in 1000
Tall stature, low IQ, Hypergonanadotrophic hypogonadism (small testes, infertile), gynaecomastia
Also what percentage have congenital heart disease?
Kleinfelters syndrome XXY
50% have CHD - ASD and PDA
Describe the syndrome:
1 in 4000
Cardiac anomalies, hypocalcaemia, thymic aplasia
What is the most common mental health disorder?
22q.11 microdeletion
30 fold increased risk of schizophrenia
Describe the syndrome:
1in 1,000-2,500
Short stature, hypertelorism, refractor errors, small upturned noses, low set posteriorly rotated ears
Noonan syndrome
In Noonan’s Syndrome 70% deletion mutation in ____________
70% deletion mutation in RAS/Mitogen activated protein kinase signalling pathway
Marfans syndrome is a result of ______ protein mutation in chromosome __
FBN1 gene mutation for Fibrillin in chromosome 15
What ocular anomaly is noted in Marfans syndrome?
Ectopia Lentis
(Up and in)
Homocysteinuria also has Ectopia Lentis but down and out
Describe the syndrome:
Has orofacial features such as frontal bossing, hypoplastic maxilla, and supernumerary teeth. The primary teeth can be overretained, and the permanent teeth remain unerupted. Supernumerary teeth are common, especially in the premolar area
Cleidocranial dysplasia
Mutation in COL2A1 associated with:
Prominent joints, arthritis, hypotonia, hypermobile joints, mitral valve prolapse, hearing loss in adolescence, spine problems (scoliosis, kyphosis, platyspondyly), and ocular problems (high myopia, choroidoretinal and vitreous degeneration; retinal detachment is common during childhood)
Autosomal dominant condition
Stickler syndrome (30-50% of Pierre Robin sequence have this)
15q 11-13 maternal deletion syndrome = ________
15q11-13 paternal deletion syndrome = _________
15q 11-13 maternal deletion syndrome = Angelman syndrome
15q11-13 paternal deletion syndrome = Prader-Willi syndrome
_________ syndrome is a neurodevelopmental disorder characterized by severe intellectual disability, postnatal microcephaly, and a movement or balance disorder, usually in the form of gait ataxia and/or tremulous movement of limbs.
Kids often have frequent laughter or smiling; apparent happy demeanor with emotional lability; an easily excitable personality, often with hand flapping movements.
Seizures by the age of 2
Angelman syndrome
Most common genetic defect for Angelman syndrome?
Gene deletion in 70% cases
What is the genetic testing for Angelman syndrome?
Methylation studies first, followed by chromosome microarray (array comparative genomic hybridization [aCGH]). If methylation studies are positive, the next step is to determine by microarray if the patient has a class I or class II deletion.
Class I more severe
_______ syndrome is characterized by hypotonia, poor feeding in infancy with failure to thrive but increased appetite and obesity in children and adults.
Prader Willi Syndrome
Also seen is genital hypoplasia, small hands and feets
What are the two most common genetic defects that contribute towards Prader Willi Syndrome?
Deletion of paternal 15q11.2-13 – 50 to 75 percent of cases.
Maternal uniparental disomy – 20 to 50 percent of cases.
What are the most common features of PWS:
- In infancy/neonate:
- School age children:
Infancy/neonate:
- Neonatal and infantile hypotonia, feeding problems during infancy, excessive weight gain after infancy, characteristic facial features, hypogonadism
School age children:
- hypotonia
- GDD
- Food seeking/obesity/always eating
- premature adrenarche, but puberty delayed otherwise
- Autism spectrum in 27%