Recombinant Chromosome 8 syndrome Flashcards
1
Q
What are symptoms of Recombinant Chromosome 8 syndrome?
A
Heart abnormalities Wide, square face Thin, upper lip Hypertelorism (wide-set eyes) Micrognathia (small chin) Intellectual disability Scoliosis Cryptorchidism
2
Q
What genes are involved in Recombinant chromosome 8 syndrome?
A
{Recombinant Chromosome}
Chromosome 8 Inversion (Parent)
Deletion of 8p (8pter-23.1)
Duplication of 8q (8q22.1-qter)
3
Q
What are the inheritance pattern of Recombinant chromosome 8 syndrome?
A
Autosomal dominant
4
Q
What is the phenotype of the heterozygous for Recombinant chromosome 8 syndrome?
A
Will have symptoms of Recombinant chromosome 8 syndrome.
5
Q
Is the homozygous dominant lethal for Recombinant chromosome 8 syndrome?
A
No, it is not lethal
