Dictionary » C » Chromosome 10

Chromosome 10

Chromosome 10

10q deletion occurs de novo and shows various malformations, high wide forehead with normocephaly, wide and bulbous tip of the nose, microretrognathia and severe mental retardation. This monosomy is rather rare and is reportedly associated with total colonic aganglionosis with small bowel involvement (TCSA), a variant of Hirschsprung disease.

The clinical phenotype of 10p duplication, which is due to malsegregation of a familial translocation, includes severe postnatal growth retardation, profound mental retardation, several major and minor anomalies, dolichocephaly, harelip producing the appearance of a turtles beak, cleft lip/palate in the absence of harelip, large low set ears, osteoarticular anomalies with hyperflexion of upper limbs and abduction-flexion of lower limbs, etc. Lethality seems considerable.

Most cases of trisomy 10qter result from a parental translocation or inversion. More severe clinical manifestations are reported for trisomy 10q24, owing to heart and renal malformations and profound mental retardation. Trisomy 10q25 lacks major malformations, the mental retardation is 1000 moderate and the prognosis is favourable. The clinical features include high protruding forehead, round, broad and flat face, fine and arched eyebrows, downward slanting palpebral fissures, blepharophimosis, hypertelorism, hypoplastic and pinched nasal bridge, a small and often beaked nose, cleft palate, ligamentary hyperlaxity, and hypotonia. Inner organ malformations are rare but mental deficiency is severe. 10q monosomy is quite rare and the main features are severe mental retardation, microcephaly, low birth weight, prominent nose bridge, long face, and anomalies of external genitalia. The phenotype of ring chromosome 10 is not very characteristic and includes cardiac and renal anomalies, small stature and moderate mental retardation.

Prenatal diagnosis of trisomy 10 is reported. Dysmorphic features include foetal nuchal edema, cleft lip/palate, small lower jaw, rocker-bottom foot, polydactyly, hitch-hiker thumb, syndactyly and inner organ malformations.

genes on chromosome 10 include those encoding glutamate oxaloacetate transaminase, orithine amino transferase and hexokinase 1. Chromosome 10 shows 2 fragile sites in the long arm, 10q23 and 10q25, which probably accounts for its increased involvement in chromosomal anomalies.


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: 200

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: 66

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: 247

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: 247

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: 247
View all matching forum results

This page was last modified 21:16, 3 October 2005. This page has been accessed 4,324 times. 
What links here | Related changes | Permanent link