Th2L03 Chromosomal abnormalities


Medicine Y1 (Theme 2 | Genetics) Flashcards on Th2L03 Chromosomal abnormalities , created by Emma Allde on 22/08/2016.
Emma Allde
Flashcards by Emma Allde, updated more than 1 year ago
Emma Allde
Created by Emma Allde over 7 years ago

Resource summary

Question Answer
Chromosomal abnormalities are responsible for ___% of spontaneous abortions; most of which are _______ 50; trisomies
Why are trisomy 13, 18 and 21 the only autosomal trisomies to be born Small chromosomes, so fewer genes in triplicate
What is Trisomy 13 called Patau syndrome
What is the life expectancy of trisomy 13 <1year ca. 103 days
What are the common abnormalities associated with Patau syndrome heart defects, incomplete brain development, small or missing eyes, spinal defects, seizures
What is Trisomy 18 called Edwards syndrome
What are the common abnormalities associated with Edwards syndrome heart defects, heat defects, intestine protruding outside body, kidney malformations
What is the life expectancy of trisomy 18 18 - 95% die in utero 50% live to 2 months 5-10% will survive first year of life
What is the other name for Trisomy 21 Down Syndrome
What serious disease/illness is associated with Trisomy 21 acute leukaemia
At birth, babies with Down syndrome usually have certain characteristic signs, including: flat facial features. small head and ears. short neck. bulging tongue. eyes that slant upward. oddly shaped ears. poor muscle tone.
What is the Simian crease ○ This crease can be present of no consequence (1 in 30) ○ More likely in down syndrome
What is the cytogenetic nomenclature of Down Syndrome 47, XX or XY
What is the life expectancy for Down syndrome 50's (around 80%)
What is euploidy The correct number of chromosomes
What is aneploidy incorrect number of chromosomes
Aneploidy causes: Failure of homologous chromosomes to separate during meiosis I
What errors happen during meiosis I to cause aneploidy non-disjunction errors during oogenesis some cases of non-disjunction during spermatogenesis
What is the cytogenetic nomenclature of Klinefelter syndrome 47, XXY
What are the key features of Klinefelter syndrome • Can appear normal • Diagnosis usually made in late during adult life at the investigation of infertility • Limited development of secondary sex characteristics • Genetically male
What is the cytogenetic nomenclature of Turner Syndrome 45, X
What is Turner's the only living example of monosomy
What are the diagnostic features of Turner's syndrmoe • Diagnosis sometimes made late during adulthood at the investigation of short stature or lack of period (amenorrhoea); no adolescent growth spurt; ova denerate in utero; limited development of secondary sexual characteristics
What is XYY syndrome • Asymptomatic; • Increased growth velocity Above average height
What is XX male syndrome Phenotypically male but infertile
How is an XX Male possible Results from unequal combination of sex chromosomes resulting in a small tip of the Y being added on to the tip of the X This region of the Y bears the SRY (sex determining region of the Y) encoding the testis determining factor... initiates male sex determinations
What is the likelihood of an XX male 1 in 20K male births
Show full summary Hide full summary


German- Beginner
Reducing the Impact of Earthquakes
C6 Flash cards
Anna Hollywood
German GCSE Vocab
Of Mice and Men
Elliot O'Leary
A Level Chemistry Unit 1 - Organic Chemistry
PHR SPHR Labor Union Terminology
Sandra Reed
GoConqr Quick Guide to Getting Started
Andrea Leyden
Checking out me History by John Agard
Eleanor Simmonds
Get your grammar right!
Sarah Holmes