Genetic Disorders

Autosomes are chromosomes that impact genotype and phenotypic functions and are __________ from sexual function.

exempt

A __________ is a visual representation of an individual’s chromosomes.

Karyotype

The XY chromosomes are the sexual chromosomes of an individual; they determine __________ sex characteristics.

secondary

An __________ is a location at a specific point on paired chromosomes which encodes for a function.

allele

The __________ is the genetic constitution of an individual, represented by the alleles inherited from both parents.

genotype

Gene __________ refers to the frequency of expression amongst individuals with a specific genotype.

penetration

Congenital anomalies can be inflicted by single-gene traits, chromosomal defects, or can be __________.

multi-factorial

Single-gene disorders result from a change in one gene within __________ cells.

reproductive

Chromosomal anomalies typically result from error(s) during __________ in cell division.

meiosis

Translocation occurs when a segment of one chromosome breaks off and attaches to __________ chromosome.

another

A __________ is a missing segment of a chromosome.

deletion

General congenital and developmental disorders can result from external factors such as premature birth, __________, and environmental influences.

teratogens

__________ disorders can be polygenic or an inherited tendency that is expressed after an exposure.

Multifactorial

Cystic Fibrosis is a genetic disorder that affects the __________ and digestive system.

lungs

Marfan Syndrome is a genetic disorder that affects the __________ tissue.

connective

Autosomal recessive genotype must be __________ for phenotype expression.

recessive

In Autosomal Recessive Disorders, a child will have a 25% chance of being affected and being a __________.

carrier

PKU stands for __________, a genetic disorder caused by a deficiency of the enzyme phenylalanine hydroxylase.

Phenylketonuria

Sickle Cell is a disorder caused by a mutation in the __________ gene, resulting in abnormal hemoglobin.

hemoglobin

In Autosomal Dominant Disorders, only one defect in alleles is required to express a __________ condition.

disordered

Huntington Disease is a genetic disorder caused by a mutation in the __________ gene.

HTT

Fragile X syndrome affects both sexes and is inherited as a dominant allele carried on the __________ chromosome.

X

X-linked recessive disorders are typically carried by the __________ chromosome.

X

Affected males of X-linked disorders always inherit from their __________ and pass the trait to their daughters.

mother

Down syndrome, also known as __________ 21, is caused by an extra copy of chromosome 21.

Trisomy

Turner Syndrome is a condition resulting from the absence of one __________ chromosome in females.

X

Klinefelter Syndrome results in males having an extra __________ chromosome.

X

Cleft palate is a congenital defect caused by incomplete fusion of __________ structures.

palatine

Cerebral palsy is often caused by brain damage that occurs during pregnancy, childbirth, or shortly after __________.

birth

Screening programs identify at-risk populations by testing for specific __________ disorders.

genetic

Amniocentesis involves the extraction of __________ fluid from the uterus.

amniotic

Neonate testing can be done approximately 48 hours after __________ using a heel prick.

birth

Genetic engineering involves laboratory practices of manipulating __________ to produce desired traits.

genes

Gene therapy modifies a person's genes to treat or prevent __________.

disease

DNA testing for genetic disorders has been used to identify conditions in __________ and newborns.

embryos

Proteomics is the large-scale study of __________, particularly their functions and interactions.

proteins

Designer Drugs are customized pharmaceuticals designed to target specific __________ disorders.

genetic

The risk of bearing children with Down syndrome increases with __________ age, particularly for those 35 and older.

maternal

Anomalies or developmental abnormalities are signs of exposure to __________.

teratogens