cri-du-chat syndrome

Karyotyping

• is a laboratory technique used to create a visual representation of an organism’s chromosomes, allowing analysis of their number and structure. ///

Karyotype

• is the complete set of chromosomes displayed in a standardized image for examination. ///

Normal male karyotype

• refers to the typical chromosomal arrangement of a male, which is 46,XY. ///

Cri-du-chat Syndrome

• is a genetic disorder caused by the deletion of part of the short arm of chromosome 5 (5p−), leading to developmental problems. ///

Chromosome 5p deletion (5p−)

• is the loss of a portion of the short arm of chromosome 5 that removes important genes needed for development. ///

Hemizygosity

• is the condition where only one copy of a gene is present instead of the normal pair due to deletion. ///

Haploinsufficiency

• occurs when a single functional copy of a gene is not enough to maintain normal function. ///

Dosage Insufficiency

• refers to reduced gene expression and protein production caused by missing gene copies. ///

Gene expression

• is the process by which information from a gene is used to produce proteins. ///

Protein production

• is the creation of proteins based on genetic instructions, essential for normal body functions. ///

CTNND2

• is a gene involved in brain development that is affected by chromosome 5p deletion. ///

SEMA5A

• is a gene that plays a role in nerve development and is impacted by deletion. ///

SEMA5B

• is another gene involved in nerve function affected by chromosome 5p deletion. ///

TERT

• is a gene responsible for cell growth and maintenance that is affected in the disorder. ///

High-pitched “cat-like” cry

• is a distinct symptom in infants with Cri-du-chat syndrome. ///

Developmental delay

• refers to slower physical and mental development compared to typical growth. ///

Intellectual disability

• is reduced cognitive ability associated with the condition. ///

Distinct facial features

• include small head, wide-set eyes, and a small jaw. ///

Speech difficulties

• refer to challenges in speaking and language development. ///

Motor difficulties

• refer to problems with movement and coordination. ///

Genetic disorder

• is a condition caused by abnormalities in genes or chromosomes. ///

Chromosomes

• are structures made of DNA that carry genetic information. ///