Conditions That Leads to Autosomal Diseases Flashcards
Conditions that lead to autosomal diseases
- Trisomy
- Autosomal Deletion
- Microdeletion
- Chromosomal Instability
A type of polysomy in which there are three instances of a particular chromosome, instead of the normal two.
Trisomy
What type is trisomy?
Aneuploidy
The most common types of autosomal trisomy that survive to birth in humans are:
Trisomy 21
Trisomy 18
Trisomy 13
Trisomy 13 is also called?
Patau Syndrome/ Trisomy D
Patau syndrome affects somewhere between __________ live births.
1 in 10000 and 1 in 21,700
Features of Patau Syndrome
Mental deficiency
Low birth weight
Abnormal development of frontal lobe
Absence of corpus callosum
Hypoplasia of cerebellum
Sloping forehead
Scalp defects
Malformed ears
Congenital heart defects
Renal tract anomalies
Microphthalmia
Bilateral cleft lip/palate
Polydactyly with rudimentary digits
Rocker-bottom heel
Trisomy 18 is also known as?
Edward’s Syndrome or Trisomy E
Caused by Trisomy 13
Robertsonian Translocations
Who describes Trisomy 18?
John H. Edwards in 1960
Edward’s Syndrome occurs in around ______________ and around _____ of those affected are female.
1 in 6,000 live births and 80% of those affected are female
Features of Edward Syndrome
Mental deficiency
Growth retardation
Prominent occiput with elongated head
Webbing of the neck
Short sternum
Micrognathia
Low-set malformed ears
Ventricular septal defects
Renal anomalies
Clenched fists with overlapping of fingers
Hypoplastic nails
Is a chromosomal condition caused by the presence of all or part of an extra 21st chromosome.
Trisomy 21
Trisomy 21 is also known as?
Down Syndrome
Trisomy 21 is named after ?
John Langdon Down in 1866
The condition Trisomy 21 was clinically described earlier in the 19th century by
Jean Etienne Dominique Esquirol and Edouard Seguin 1838
Down syndrome was identified as a chromosome 21Trisomy by
Dr. Jerome Lejeune in 1959
Average IQ for Down Syndrome
50
Features of Down Syndrome
Short height
Severe mental deficiency with decline in the IQ with age
Brachycephaly with flat face and occiput
Flat and low nasal bridge
Upward slant to palpebral fissures
Malformed large ears
Epicanthal folds of the eyes
Brushfield spots in iris
Renal anomalies
Prominent and protruding tongue (scrotal tongue)
Simian crease Clinodactyly of 5th digit
The most common types of autosomal deletion syndromes are
Cri Du Chat
Prader-Willi Syndrome
Cri Du Chat is also known as
5p deletion syndrome, 5p minus syndrome or Lejeune’ Syndrome
Is a rare genetic disorder due to a missing part of chromosome 5. Its name is a French term (cat-cry or call of the cat) referring to the characteristic cat-like cry of affected children.
Cri du Chat
Criduchat was first described by
Jerome Lejeune 1963
5p deletion syndrome affects __________ live births.
1 in 50,000
What structure is deleted in cri-du chat?
Chromosome 5 on the short arm
Features of Cri Du Chat
*Excessive Drooling
*Behavioral Problems
*Often Mental Retarded
*Exhibits Gastorintestinal and Cardiac Complications
*Abnormal Development of Larynx and Glottis
A rare genetic condition that affects your child’s metabolism and causes changes to their body and behavior.
Prader-Willi Syndrome
PWS can lead to ________ and have a tremendous appetite between
severe obesity and 2-6 years old
There are different causes of this genetic change to chromosome 15:
Chromosomal Deletion- 70%
Maternal Uniparental Disomy- 25%
Translocation- Less than 1%
Symptoms of PWS in infancy
A weak cry
Lethargy
Poor feeding ability
Weak muscle tone
Symptoms of PWS in children
Almond-shape eyes
A long, narrow head
A triangular mouth
Short height
Development and behavioral of PWS symptoms
Sleep abnormalities
Emotional outbursts
Problems with cognitive development
Development and behavioral of PWS symptoms
Sleep abnormalities
Emotional outbursts
Problems with cognitive development
