SG def from Questions with Genetic Diseases

Prader-Willi syndrome

Caused by a loss of paternal gene expression

Sickle Cell

Autosomal Recessive

Fragile X Syndrome

X linked Dominant (repeat in CGG gene)

Klinefelter syndrome

A genetic condition resulting from an extra X chromosome in males, leading to physical and developmental challenges. (47, XXY)

Xeroderma pigmentosum

Autosomal recessive (defect in DNA repair genes)

Examples of Imprinting disorders

Beckwith-Wiedemann syndrome (imprinting on 11p15)

Prader-Willi syndrome (imprinting on 15q11-q13)

Balanced reciprocal translocation

Exchange of segments between two non-homologous chromosomes without loss of genetic material.

Balanced Robertsonian Translocation

Fusion of two acrocentric chromosomes (centromeres close to one end) at their centromeres, with loss of short armsleading to one large chromosome and one small chromosome.

Isochromosome

A chromosome with two identical arms (either two p arms or two q arms) due to faulty centromere division.

Pericentric Inversion

An inversion that includes the centromere, flipping a chromosome segment

Paracentric Inversion

Acentric/dicentric chromosomes, which are non-viable (not passed to offspring).

Droplet Digital PCR

A test that partitions DNA into thousands of droplets, each analyzed for the presence/absence of the variant.

SNP Microarray

A test that identifies single nucleotide polymorphisms (SNPs)—single-base differences in the genome—as well as copy number variations (CNVs) and loss of heterozygosity (LOH).

NGS-based panel testing

Next-Generation Sequencing (NGS)-based panel testing: A "genetic test" that checks only specific genes you’re interested in (like a "VIP list" for DNA). It uses fancy machines to read those genes super fast.