What’s on the 12th chromosome?
Ring chromosome 12 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by postnatal growth retardation, variable degrees of developmental delay and intellectual disability , microcephaly and facial dysmorphism (incl.
What condition occurs when part of chromosome 12 is duplicated?
Chromosome 12q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 12. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved.
What gene is located in chromosome 12?
The VWF gene is located on Chromosome 12. It contains 52 exons spanning 178 kbp.
How many base pairs does chromosome 12 have?
Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 12, one copy inherited from each parent, form one of the pairs. Chromosome 12 spans about 132 million DNA building blocks (base pairs) and represents between 4 percent and 4.5 percent of the total DNA in cells.
What is Trisomy 12 called?
Chromosome 12, trisomy 12p, is an extremely rare chromosomal disorder in which a portion of the short arm of the 12th chromosome (12p) appears three times (trisomy) rather than twice in cells of the body.
What is Noonan syndrome?
Noonan syndrome is a genetic disorder that prevents normal development in various parts of the body. A person can be affected by Noonan syndrome in a wide variety of ways. These include unusual facial characteristics, short stature, heart defects, other physical problems and possible developmental delays.
What happens if you are missing chromosome 13?
Chromosome 13, Partial Monosomy 13q is usually apparent at birth and may be characterized by low birth weight, malformations of the head and facial (craniofacial) area, abnormalities of the eyes, defects of the hands and/or feet, genital malformations in affected males, and/or additional physical abnormalities.
What is chromosome 12 deletion syndrome?
Chromosome 12q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 12. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved.
Which chromosome determines what?
The X and Y chromosomes, also known as the sex chromosomes, determine the biological sex of an individual: females inherit an X chromosome from the father for a XX genotype, while males inherit a Y chromosome from the father for a XY genotype (mothers only pass on X chromosomes).