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Medical genetics Wolf–Hirschhorn syndrome ( WHS ) is a chromosomal deletion syndrome resulting from a partial deletion on the short arm of chromosome 4 [del(4)(p16.3)]. [ 3 ] Features include a distinct craniofacial phenotype and intellectual disability .
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child.
Individuals with PKS present prenatally or at birth with multiple birth defects.These defects include: brain atrophy, agenesis of the corpus callosum, polymicrogyria of the brain, and/or spot calcifications in the brain's lateral sulcus; deafness and/or blindness; autonomic nervous system dysfunctions such as anhidrosis, hypohidrosis, and/or episodic spells of hyperventilation interspersed ...
XXXY syndrome is a genetic condition characterized by a sex chromosome aneuploidy, where individuals have two extra X chromosomes. [2] People in most cases have two sex chromosomes: an X and a Y or two X chromosomes.
Medical genetics 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).
Gonadal dysgenesis; Specialty: Medical genetics : Diagnostic method: pelvic examination (checking for maturation of external internal genitals), general examination (looking for secondary sexual characters), chromosome karyotyping, hormone levels like FSH, LH (which are increased in case of purely XX dysgenesis), family history
Chromosome 12 is one of the 23 pairs of chromosomes in humans.People normally have two copies of this chromosome. Chromosome 12 spans about 133 million base pairs (the building material of DNA) and represents between 4 and 4.5 percent of the total DNA in cells.
Smith–Magenis syndrome (SMS), also known as 17p- syndrome, is a microdeletion syndrome characterized by an abnormality in the short (p) arm of chromosome 17. [1] It has features including intellectual disability, facial abnormalities, difficulty sleeping, and numerous behavioral problems such as self-harm.