A microdeletion is an abnormality that occurs when a piece of a chromosome is missing. In fact, it's just what it sounds like: micro (tiny); deletion (taken away).

A microdeletion syndrome is a syndrome caused by a chromosomal deletion smaller than 5 million base pairs (5 Mb) spanning several genes that is too small to be detected by …

Discover microdeletion syndromes, focusing on types, symptoms, and causes. Learn how they are diagnosed and the available treatment options.

Nov 26, 2022 · Microdeletion and Microduplication Syndromes - Etiology, pathophysiology, symptoms, signs, diagnosis & prognosis from the Merck Manuals - Medical Professional Version.

Aug 15, 2024 · This topic reviews microdeletion syndromes involving chromosomes 12 through 22. Microdeletion syndromes involving chromosomes 1 through 11 are discussed separately, …

Jul 21, 2025 · Different microdeletions lead to distinct syndromes, each with its own set of characteristics. The severity and range of symptoms can also vary widely, even among …

5q31.3 microdeletion syndrome is a condition characterized by severely delayed development of speech and motor skills, such as walking. Beginning in infancy, affected individuals also have …

Chromosome 15q13.3 microdeletion syndrome is caused by genetic mutations, also known as pathogenic variants. Genetic mutations can be hereditary, when parents pass them down to …

Microdeletion syndrome is defined as a genetic disorder caused by a small deletion of genetic material, typically less than 2 Mb, resulting in the loss of several genes from a specific …

Microdeletions represent a unique group of genetic disorders that can have a significant impact on an individual's health and development. While each microdeletion and microduplication …