The disorder is usually not inherited Following a diagnosis, the condition may be managed based on the presenting symptoms and extent of involvement of the body systems. [dovemed.com]

Treatment is based on the signs and symptoms present in each person.[7815][7816][7817] For more information, visit GARD. [rarediseases.org]

Treatment for this deletion varies because it depends on the signs and symptoms present in each person. For example, babies with congenital diaphragmatic hernia may need surgery. [rareguru.com]

Case presentation We herein reported a POF case characterized by short stature with only 0.447 Mb deletion on chromosome 15q25.2. [bmcmedgenomics.biomedcentral.com]

Discussion In the present study, we report two cases of chromosome 15q26.3 duplication and one case of ring chromosome 15 syndrome. [ec.bioscientifica.com]

• Disability

  The signs and symptoms vary but usually include mild to moderate intellectual disability and developmental delay. Some people may also have poor growth, anemia and/or physical abnormalities. [rarediseases.org]

  Individuals with this condition are missing a small piece (deletion) of chromosome 15 at location q25.2 The signs and symptoms vary but usually include mild to moderate intellectual disability and developmental delay. [dovemed.com]

  It is unclear how a loss of these genes leads to intellectual disability, distinctive facial features, and other abnormalities often seen in people with a 15q24 microdeletion. [medlineplus.gov]

  An example is the 2 Mbp microdeletion encompassing the 15q13.3 region associated with intellectual disability, schizophrenia, autism and epilepsy [13]. [journals.plos.org]

• Developmental Delay

  The signs and symptoms vary but usually include mild to moderate intellectual disability and developmental delay. Some people may also have poor growth, anemia and/or physical abnormalities. [rarediseases.org]

  Individuals with this condition are missing a small piece (deletion) of chromosome 15 at location q25.2 The signs and symptoms vary but usually include mild to moderate intellectual disability and developmental delay. [dovemed.com]

  Patient three, with a 46,XX r(15) (p10q26.2) karyotype, displayed intrauterine growth retardation, developmental delay, mental and psychomotor retardation. [ec.bioscientifica.com]

  Wat et al. [5] have suggested that these genes were associated with short stature and developmental delay in patients with 15q25.2 deletion. [bmcmedgenomics.biomedcentral.com]

• Anemia

  Because people with this deletion are at risk for anemia and certain types of cancer (acute myeloid leukemia, osteosarcoma), they may be screened regularly for these conditions. [rareguru.com]

  Some people may also have poor growth, anemia and/or physical abnormalities. Most cases are not inherited, although affected individuals can pass the deletion on to their children. [rarediseases.org]

  Some individuals may also have poor growth, anemia, and/or physical abnormalities Chromosome 15q25.2 Microdeletion Syndrome often occurs sporadically as a random event during formation of the egg or sperm. [dovemed.com]

  It is currently believed that deletion of RPS17L (OMIM 180472) gene might be responsible for the cause of anemia in patients with a proximal 15q25.2 microdeletion, and no loss of this gene has occurred in this patient. [bmcmedgenomics.biomedcentral.com]

• Poor Growth

  Some people may also have poor growth, anemia and/or physical abnormalities. Most cases are not inherited, although affected individuals can pass the deletion on to their children. [rarediseases.org]

  Some people may also have poor growth, anemia and/or physical abnormalities. Most cases are not inherited, although affected individuals can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person. [rareguru.com]

  Some individuals may also have poor growth, anemia, and/or physical abnormalities Chromosome 15q25.2 Microdeletion Syndrome often occurs sporadically as a random event during formation of the egg or sperm. [dovemed.com]

• Fishing

  (B) FISH results on interphase nuclei for proximal and distal inversions in each analyzed species. [journals.plos.org]

  In such cases, FISH or array-CGH studies may be necessary to detect the deletions It is important to note that a child’s development and future is not only influenced by the chromosome material duplicated/deleted and genes involved, but also by other [dovemed.com]

  This feature was first ascribed to the 15q26.3 deletion, but FISH analysis revealed three copies of the IGF1R gene. [ec.bioscientifica.com]

• Failure to Thrive

  Finally, patient 3 had IUGR, failure to thrive, mental and psychomotor retard, café-au-lait patches. We reviewed 96 patients with chromosome 15q duplication and we summarized the main clinical features in Table 1. [ec.bioscientifica.com]

• Long Arm

  Each chromosome is “X” shaped with a center, called the centromere, and two short arms (termed p arms) and two long arms (termed q arms). Humans have 46 chromosomes in the cell nucleus, in 23 pairs, of which one pair is named the sex chromosome. [dovemed.com]

  In about 20 percent of cases of dup15q syndrome, the duplication occurs on the long (q) arm of one of the two copies of chromosome 15 in each cell; this situation is called an interstitial duplication. [medlineplus.gov]

  A ring chromosome origins from a breakage in both the arms of the chromosome and a fusion of the breakpoints, with consequent loss of the distal fragments. This results in monosomy of the distal short and long arms of the chromosome involved (7). [ec.bioscientifica.com]

  Human chromosome 15 contains nearly 40 copies of the GOLGA core element [6], dispersed to multiple locations across the long arm of chromosome 15. [journals.plos.org]

• Short Arm

  Each chromosome is “X” shaped with a center, called the centromere, and two short arms (termed p arms) and two long arms (termed q arms). Humans have 46 chromosomes in the cell nucleus, in 23 pairs, of which one pair is named the sex chromosome. [dovemed.com]

• Seizure

  The treatment measures for Chromosome 15q25.2 Microdeletion Syndrome may involve: Seizure control using anticonvulsant medication, vitamin supplements, and ketogenic diet. [dovemed.com]

  Certain medications may be prescribed to treat seizures. Because people with this deletion are at risk for anemia and certain types of cancer (acute myeloid leukemia, osteosarcoma), they may be screened regularly for these conditions. [rareguru.com]

  A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. Nat Genet. 2008 Mar;40(3):322-8. doi: 10.1038/ng.93. Epub 2008 Feb 17. [medlineplus.gov]

• Hyperactivity

  […] intellectual disability Poor growth Heart defects Congenital diaphragmatic hernia Bone and muscle problems Undescended testes Limb abnormalities Short, webbed neck Thin upper lip Blood abnormalities (anemia, blood clots) Autism Psychiatric problems (anxiety, hyperactivity [rareguru.com]

  […] neck The bones and muscles may be affected in many children Undescended testes Limb (hands and feet) abnormalities Blood abnormalities such as anemia and blood clots Autism Mild to moderate intellectual disability Psychiatric issues such as anxiety, hyperactivity [dovemed.com]

• Cryptorchidism

  Patient one, with a 568 kb pure duplication, had overgrowth, developmental delay, mental and psychomotor retardation, obesity, cryptorchidism, borderline low testis volume, severe oligoasthenoteratozoospermia and gynecomastia. [ec.bioscientifica.com]

and in some cases, due to treatment also. [dovemed.com]

Treatment is based on the signs and symptoms present in each person.[7815][7816][7817] For more information, visit GARD. [rarediseases.org]

Treatment for this deletion varies because it depends on the signs and symptoms present in each person. For example, babies with congenital diaphragmatic hernia may need surgery. [rareguru.com]

However, the patient did not receive further treatment because of her parents’ concern regarding the side effects. [bmcmedgenomics.biomedcentral.com]

What is the Prognosis of Chromosome 15q25.2 Microdeletion Syndrome? (Outcomes/Resolutions) The prognosis of Chromosome 15q25.2 Microdeletion Syndrome is dependent upon the severity of the signs and symptoms and associated complications, if any. [dovemed.com]

IGF1R gene may also be involved in the etiology of neurological symptoms of these patients. [ec.bioscientifica.com]

(Etiology) Chromosome 15q25.2 Microdeletion Syndrome is caused by the deletion of genetic material in the long arm (q) of chromosome 15, at the genetic locus designated 25.2. In most cases, the deletion occurs as a random event (de novo). [dovemed.com]

How can Chromosome 15q25.2 Microdeletion Syndrome be Prevented? Chromosome 15q25.2 Microdeletion Syndrome may not be preventable since many of these genetic disorders are diagnosed at or following the birth of the child. [dovemed.com]

There is nothing that an individual can do to cause or prevent this deletion from happening. Most people with this deletion are missing a piece of chromosome 15 that contains 27 genes. [rareguru.com]

The PML gene on chromosome 15 provides instructions for a protein that acts as a tumor suppressor, which means it prevents cells from growing and dividing too rapidly or in an uncontrolled way. [medlineplus.gov]

Microarray analysis of 15q25 microdeletions in previous [19–24] and current studies refined breakpoint locations to segmental duplication blocks A, B and C; however, probe cross-hybridization prevented further narrowing of breakpoint locations within [journals.plos.org]