Search results
Results from the WOW.Com Content Network
Juvenile myelomonocytic leukemia (JMML) is a rare form of chronic leukemia (cancer of the blood) that affects children, commonly those aged four and younger. [2] The name JMML now encompasses all diagnoses formerly referred to as juvenile chronic myeloid leukemia (JCML), chronic myelomonocytic leukemia of infancy, and infantile monosomy 7 syndrome.
Affected individuals may have a somewhat shortened lifespan without treatment. The maximum lifespan without treatment is 67 years. When a 13q deletion is detected, such as in a bone marrow biopsy for Multiple Myeloma, chemo treatments in recent years have the ability to extend life expectancy without limitations depending on response to treatments.
Turner syndrome (TS), commonly known as 45,X, or 45,XO, [note 1] is a chromosomal disorder in which cells have only one X chromosome or are partially missing an X chromosome (sex chromosome monosomy) leading to the complete or partial deletion of the pseudoautosomal regions (PAR1, PAR2) in the affected X chromosome.
Life expectancy is around 50 to 60 years in the developed world, with proper health care. [9] [10] Regular screening for health issues common in Down syndrome is recommended throughout the person's life. [9] Down syndrome is the most common chromosomal abnormality, [26] occurring in about 1 in 1,000 babies born worldwide, [1] and one in 700 in ...
Monosomy of chromosome 7 (i.e. lose of one of the two chromosomes 7) or deletion of the "q" (i.e. short arm) of one chromosome 7 are the most common abnormal karyotypes (i.e. abnormal chromosome number or appearance) associated with GATA2 deficiency, occurring in ~41% of cases; less common abnormal karyotypes associated with the deficiency ...
1p36 deletion syndrome is a congenital genetic disorder characterized by moderate to severe intellectual disability, delayed growth, hypotonia, seizures, limited speech ability, malformations, hearing and vision impairment, and distinct facial features.
3p deletion syndrome is brought on by the loss of chromosome 3's small (p) arm's end. The majority of 3p deletion syndrome instances are not hereditary. One chromosome is deleted, usually randomly, either in the early stages of fetal development or during the production of reproductive cells, such as eggs or sperm.
Partial monosomy of chromosome 13q is a monosomy that results from the loss of all or part of the long arm of chromosome 13 in human beings. It is a rare genetic disorder which results in severe congenital abnormalities which are frequently fatal at an early age.