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Distal trisomy 10 is a rare chromosomal disorder that causes several physical defects and intellectual disability. Humans, like all sexually reproducing species, have somatic cells that are in diploid [2N] state, meaning that N represent the number of chromosomes, and 2 the number of their copies.
Symptoms: Varied; commonly congenital heart problems, specific facial features, cleft palate: Complications: Kidney problems, hearing loss, autoimmune disorders: Causes: Genetic (typically new mutation) Diagnostic method: Based on symptoms and genetic testing: Differential diagnosis
Multiple birth defects. Usual onset. Prenatally. Causes. Small supernumerary marker chromosome. Named after. Philip Pallister. Wolfgang Killian. The Pallister–Killian syndrome (PKS), also termed tetrasomy 12p mosaicism or the Pallister mosaic aneuploidy syndrome, is an extremely rare and severe genetic disorder.
Miller–Dieker syndrome, Miller–Dieker lissencephaly syndrome (MDLS), and chromosome 17p13.3 deletion syndrome [1] is a micro deletion syndrome characterized by congenital malformations. Congenital malformations are physical defects detectable in an infant at birth which can involve many different parts of the body including the brain ...
Trisomy 8 mosaicism affects wide areas of chromosome 8, containing many genes, and can thus be associated with a range of symptoms. Mosaic trisomy 8 has been reported in rare cases of Rothmund–Thomson syndrome, a genetic disorder associated with the DNA helicase RECQL4 on chromosome 8q24.3. The syndrome is "characterized by skin atrophy ...
These individuals may have more severe disease than those with isolated monosomy of 5p. A recent study suggests this may not be the case where a trisomy of chromosome 4q is involved. Most cases involve total loss of the most distal 10–20% of the material on the short arm.
Y chromosome microdeletion. Y chromosome microdeletion (YCM) is a family of genetic disorders caused by missing genes in the Y chromosome. Many men with YCM exhibit no symptoms and lead normal lives. It is present in a significant number of men with reduced fertility. [1]
Causes. Chromosome microdeletion. Diagnostic method. Fluorescence in situ hybridization. 17q12 microdeletion syndrome, also known as 17q12 deletion syndrome, is a rare chromosomal anomaly caused by the deletion of a small amount of material from a region in the long arm of chromosome 17.
Symptoms of tetrasomy 9p vary widely among affected individuals but typically include varying degrees of delayed growth, abnormal facial features and intellectual disability. Symptoms of the disorder are comparable to those of trisomy 9p.
Monosomy 9p (also known as Alfi's Syndrome or simply 9P-) is a rare chromosomal disorder in which some DNA is missing or has been deleted on the short arm region, "p", of one copy of chromosome 9 (9p22.2-p23). [1] [2] This deletion either happens de novo or as a result of a parent having the chromosome abnormality. [3]