How is monosomy 9p inherited?
This genetic abnormality can occur de novo (randomly without parents being carriers) or as a result of an often healthy parent’s genetic makeup (balanced translocation). The result of a 9p deletion is a loss genes or genetic material that are normally found within the chromosome.
What is monosomy 9p?
Monosomy 9p is a rare chromosomal anomaly characterized by psychomotor developmental delay, facial dysmorphism (trigonocephaly, midface hypoplasia, upslanting palpebral fissures, dysplastic small ears, flat nasal bridge with anteverted nostrils and long philtrum, micrognathia, choanal atresia, short neck), single …
What gene or chromosome is affected by monosomy 9p?
Chromosome 9, Partial Monosomy 9p is a rare chromosomal disorder in which there is deletion (monosomy) of a portion of the 9th chromosome.
Can anyone get monosomy 9p?
Chromosome 9p deletion syndrome occurs 1 in 50,000 births. Half of the cases occur sporadically, while the other half of cases result from parent translocations or the parent having deletion as well.
What population is affected by monosomy 9p?
Is trisomy 9 inherited?
Mosaic trisomy 9 is usually not inherited . It often occurs sporadically as a random event during the formation of the reproductive cells (egg and sperm) or as the fertilized egg divides.
What is 9p duplication?
Chromosome 9p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 9. 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 causes partial Monosomy 9p on chromosome 9?
(The distal region of 9p is sometimes referred to as “9p2” and includes bands 9p21 through 9p24, the latter of which is the terminal band of 9p.) In most cases, Chromosome 9, Partial Monosomy 9p appears to be caused by spontaneous (de novo) errors very early in embryonic development that occur for unknown reasons (sporadically).
What can happen to a person with chromosome 9?
In severe cases, congenital heart disease may lead to potentially life-threatening complications. In some individuals with the disorder, Chromosome 9, Partial Monosomy 9p may also be characterized by genital defects.
Where do the deletions begin on chromosome 9p?
Evidence suggests that most individuals with characteristic features of this chromosomal syndrome have deletions beginning within band 9p22 (breakpoint) that may extend to the end (or “terminal”) of chromosome 9p.
What are the genital defects of chromosome 9?
In some individuals with the disorder, Chromosome 9, Partial Monosomy 9p may also be characterized by genital defects. In affected males, such abnormalities may include a small penis (micropenis); undescended testes (cryptorchidism); and/or abnormal placement of the urinary opening (hypospadias), such as on the underside of the penis.