Exam 2 Syndromes Flashcards
what is trisomy 21 associated with?
down syndrome
what are the symptoms of down syndrome
Heart problems, 50% vision and hearing problems mild to moderate mental retardation 14 times more likely to develop AML (leukemia) Premature aging (life expectancy 55 yrs)
does down syndrome increase or decrease with maternal age
sharp increase
what are the risk assessment test for down syndrome
triple test and nuchal translucency test
what are some congenital problems of down syndrome
60% of Down’s have one or more abnormalities:
40-45% cardiac
10% gastrointestinal
If any baby have either atrioventricular canal (heart) or duodenal atresia;
Down is suspected
what is trisomy 13 associated with
patau syndrome
what are some symptoms of patau syndrome
- Average survival period for children with Patau syndrome is 2.5 days, 1 / 20 survive > 6 months
- multiple malformations
- severe developmental delay
- no speech development
what is trisomy 19 assoicated with
edwards syndrome
what are the symptoms of edwards syndrome
Severe talipes
Horseshoe kidneys
Severe retardation
-low survival rates in first few years
what is the karyotype for turner syndrome
45,X (50%)
45,X / 46,XX (20%) and others
what is the karyotype for klinefelter syndrome
47 XXY
what is the karyotype for triple x syndrome
47 , XXX
what is the karyotype for XYY syndrome
47 XYY
what are the incidence rates for turner, klinefelter, triple X, and XYY syndromes respectively
TS-1/ 5000 females
KFS- 1/1000 males
XXX S-1/1000 females
XYY S-1/1000 males
what are the clinical features of turner syndrome
Short stature, infertility, oedema in womb, neck webbing
what are the clinical features of klinefelter syndrome
Tall, gynaecomastia,
Infertile, mild learning difficulties
what are the clinical features of triple X syndrome
Normal fertility, mild learning difficulties
Normal physically
what are the clinical features of XYY syndrome
Tall, fertile, minor behavioural problems
what is 4p-syndrome
wolf hirschorn syndrome
what are the symptoms of 4p syndrome
Severe growth retardation Psychomotor delay and mental retardation Dysgenesis of the corpus callosum Seizures Renal hypoplasia Ventricular septal defect
Facial features (wide-set eyes, microcephaly)
what is 5 p deletion syndrome also called
cri du chat syndrome
what are the symptoms of cri du chat syndrome
name is French for “cry of the cat,“
The cry is caused by abnormal larynx development, which becomes normal within a few weeks of birth.
Low birth weight, may have respiratory problems, Microcephaly, Mental retardation, Facial features Normal life expectancy
what is 7q11.2 sydnrome also called?
williams beuren syndrome
what are the symptoms of williams beuren syndrome
mild mental retardation (some are normal);
Strengths in auditory memory and language, extreme weakness in 3D skills (writing, math);
Elastin artheriopahty (elastin gene is deleted), arteries is narrow;
distinctive facial features
Hypercalcemia
Overfriendliness, generalized anxiety, and attention deficit disorder
