What disorders are carried on the Y chromosome?
Loss of the Y chromosome is associated with increased risk of cancer, Alzheimer’s disease, and cardiovascular disease (17). Mutations in the X-linked KDM5C affect heart development in females and males (29). The Y-linked gene, UTY, when functional, reduces pro-inflammatory cytokines and endothelial cell death (28).
What can a microdeletion cause?
3 microdeletion has also been associated with behavioral problems, including a short attention span, aggression, impulsive behavior, and hyperactivity. Some people with a 15q13. 3 microdeletion have been diagnosed with developmental disorders that affect communication and social interaction (autism spectrum disorders).
What diseases are Y-linked?
Hypertrichosis of the ears, webbed toes, and porcupine man are examples of Y-linked inheritance in humans. Hypertrichosis of the ears (or hairy ears) is a condition wherein there is a conspicuous growth of hair on the outside rim of the ear.
What causes Y chromosome deletion?
Y chromosome infertility is caused by deletions of genes in the AZF regions. These deletions remove several genes, or in rare cases, a single gene. Loss of this genetic material likely prevents the production of one or more proteins needed for normal sperm cell development.
Why are Y-linked disorders so rare?
Like X-linked dominant diseases, Y chromosome-linked diseases are also extremely rare. Because only males have a Y chromosome and they always receive their Y chromosome from their father, Y-linked single-gene diseases are always passed on from affected fathers to their sons.
What are Y chromosome microdeletions?
Y chromosome microdeletions (YCMDs) are the second most common genetic cause of male infertility. Meiotic recombination errors in highly repetitive sequences in the Y chromosome result in microdeletions. Three regions of the Y chromosome appear particularly susceptible to deletion and are termed AZFa, AZFb, and AZFc.
Is the mechanism of mutation different for Y-chromosome microdeletion?
The mechanism of mutation is not different for Y-chromosome microdeletion. However, the ability to repair it differs from other chromosomes.
How common is microdeletion of chromosome 15q13 in developmental delay?
Masurel-Paulet et al. 50) found that 16 (0.35%) of 4,625 patients tested for developmental delay had a microdeletion of chromosome 15q13.3 including the CHRNA7 gene. Twelve patients and 13 relatives had the common deletion between BP4 and BP5 ranging in size from 1.5 to 1.8 Mb.
What causes 2q37 microdeletion syndrome?
In some individuals, 2q37 microdeletion syndrome results from chromosome rearrangements involving 2q37 (e.g., chromosome 2 inversion, ring chromosome 2, or translocation between chromosome 2 and another chromosome). Mutation of HDAC4 has been proposed as causative for most of the features of the 2q37 microdeletion syndrome.