Inherited mutations and Aneuploidy

Duchenne Muscular Dystrophy (DMD)

An X-linked recessive genetic disorder caused by a mutation (inherited from the mother or occurring in the male zygote) that results in progressive muscle weakness, eventually causing death due to the failure of respiratory muscles.

Cystic Fibrosis (CF)

An autosomal recessive disorder caused by a mutation in a large gene on chromosome 7, which impairs a protein that regulates chloride ion passage across cell membranes, leading to salty-tasting skin, persistent coughing, lung infections, and digestive issues.

Non-disjunction

The failure of a chromosome pair to separate properly during meiosis, resulting in daughter cells (eggs or sperm) with either an extra chromosome or a missing chromosome.

Aneuploidy

A genetic condition characterized by an abnormal number of chromosomes, resulting from non-disjunction rather than a structural gene mutation.

Trisomy

A condition resulting from non-disjunction (such as the failure of chromatids to separate in the second meiotic division) where an individual has three copies of a particular chromosome instead of the normal two.

Trisomy 21 (Down Syndrome)

A condition characterized by having three copies of chromosome 21, leading to characteristic facial features, intellectual disabilities, weak muscles, and potential heart or digestive defects.

Partial Trisomy

A condition where many symptoms of a trisomy (such as Down syndrome) occur because only part of an extra copy of a chromosome is attached to another chromosome.

Trisomy 13 (Patau Syndrome)

A condition caused by an extra chromosome 13, resulting in intellectual disabilities, microcephaly, polydactyly (extra fingers), a cleft palate/lip, and eye or ear malformations.

Klinefelter Syndrome

A sex chromosome trisomy (XXY) in males who typically develop normally as boys but experience infertility and low muscle tone as adults.

Jacobs Syndrome

A sex chromosome trisomy (XYY) in males that causes subtle physical symptoms such as being taller than average, delayed speech and motor skills, and an increased risk of ADHD.

Monosomy

A condition where an individual is missing a chromosome; if an entire autosome is missing, it usually results in severe malformations and miscarriage.

Partial Monosomy

A condition where only a portion of a chromosome is missing, meaning the individual has two copies of most of the chromosome but only one copy of the missing segment.

Cri-du-chat Syndrome

A rare genetic disorder caused by a partial monosomy of chromosome 5, resulting in a high-pitched mewling cry in newborns due to laryngeal abnormalities, microcephaly, moderate intellectual disability, and hyperactivity.

Turner Syndrome

A sex chromosome monosomy (Monosomy X) in females characterized by short stature, delayed puberty, infertility, and potential heart, kidney, or thyroid issues.