Ch. 3 Hereditary Influences on Health of the Child and Family

Vocabulary flashcards covering key genetic concepts, chromosomal disorders, numeric abnormalities, and patterns of inheritance from Chapter 3.

Pharmacogenetics/Pharmacogenomics

An approach in genomics that allows individualized medication selection and dosing to improve efficacy and safety.

Euploidy

A numeric chromosome abnormality defined as the uniform addition of chromosomes to all the original pairs.

Trisomy

A numeric chromosome abnormality characterized by an additional chromosome.

Monosomy

A numeric chromosome abnormality characterized by the deletion of one chromosome.

Chromosome Instability Syndromes

A heterogenous group of disorders characterized by high breakage of chromosomes, decreased immune function, and an increased risk of cancer.

Translocation Down syndrome

A type of Down syndrome accounting for $4$% of all cases, such as a male robertsonian translocation between acrocentric chromosomes 14 and 21 denoted as $46,XY,t(14;21)$.

Mosaic Down syndrome

A rare form of Down syndrome ($46,XX/47,XX,+21$) resulting from mitotic nondisjunction during early embryonic development of a normal zygote, causing affected children to have mixed cell populations.

Trisomy 18 (Edwards syndrome)

A chromosome abnormality characterized by severe cognitive impairment, physical abnormalities, and a short life span.

Trisomy 13 (Patau syndrome)

A chromosome abnormality characterized by severe malformations resulting from a greater gene imbalance and a short life span.

Mosaicism

The presence of two or more chromosomally distinct cell lines in the same individual.

Aneuploidy

An abnormal chromosome pattern in which the total number of chromosomes is not a multiple of the haploid number ($23$).

X-Linked Recessive Inheritance

An inheritance pattern where affected individuals are principally males, all carrier females are normal, all affected males have symptoms, and males are not carriers.

Proband

The affected person or index case used when constructing a family history, pedigree chart, or genogram.