Dictionary » C » Chromosome 20

Chromosome 20

Chromosome 20

The phenotype of trisomy 20p, which results from a parental translocation, includes mild to moderate developmental delay, round face with telecanthus, flat nasal bridge and short palpebral fissures but major pre- and postnatal growth development malformations are rare. The phenotype of interstitial 20p deletion is consistent with Alagille syndrome, an autosomal dominant disease with reduced penetrance and variable expressivity, and is defined by bile duct paucity in association with cardiac, skeletal, ocular and facial abnormalities. 20q13 trisomy shows brachycephaly, hypertelorism, ear anomalies, cleft palate, micrognathia, chin dimple, anteverted nares, cNS malformations, heart defects, psychomotor retardation and reduced life expectancy. Ring chromosome 20 presents with absence of major congenital malformations and paucity of dysmorphic features. Patients can show behavioural problems, seizures, mild dysmorphic features and variable degrees of mental retardation. Sipple syndrome, or multiple endocrine neoplasia type 2, is assigned to chromosome 20p.


Please contribute to this project, if you have more information about this term feel free to edit this page



Results from our forum


Re: Mitochondrial DNA

There are genetic diseases caused by defects carried on the mitochondrial chromosome that can have clear phenotypic consequences. http://www.umdf.org/site/c.8qKOJ0MvF7LUG/b.7934627/k.3711/What_is_Mitochondrial_Disease.htm

See entire post
by jonmoulton
Mon Sep 08, 2014 5:23 pm
 
Forum: Genetics
Topic: Mitochondrial DNA
Replies: 2
Views: 728

Colorblindness Probability Help!

The incidence of an XXY karyotype is about 1 in every 1000 male births, the extra X chromosome coming either from the mother's egg or the father's sperm by nondisjunction during meiosis. Suppose the baby's father has red-green colorblindness. Would you predict that ...

See entire post
by kaylagh
Sun Sep 07, 2014 6:07 am
 
Forum: Genetics
Topic: Colorblindness Probability Help!
Replies: 0
Views: 241

Chromatin

I am all for skipping the mitochondrial chromosome for now:) Thank you for your explanation...it really helps:)

See entire post
by Hannamerika
Thu Sep 04, 2014 10:13 pm
 
Forum: Genetics
Topic: Chromatin
Replies: 2
Views: 966

Re: Chromatin

Before replication there were 23 pairs of molecules, 23 of maternal origin and 23 of paternal origin, plus the maternally-contributed mitochondrial chromosome (which I'll ignore for the rest of this post). Counting chromosomal centromeres, there are 46 centromeres total. After replication there ...

See entire post
by jonmoulton
Thu Sep 04, 2014 3:04 pm
 
Forum: Genetics
Topic: Chromatin
Replies: 2
Views: 966

Chromatin

... cell for it to replicate. Is that correct? That way once the chromatin replicates and does all of it's twisting and coiling, we then have our 23 chromosome pairs. Yes?

See entire post
by Hannamerika
Thu Sep 04, 2014 9:12 am
 
Forum: Genetics
Topic: Chromatin
Replies: 2
Views: 966
View all matching forum results

This page was last modified 21:16, 3 October 2005. This page has been accessed 1,857 times. 
What links here | Related changes | Permanent link