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16p11.2 deletion syndrome is a rare genetic condition caused by microdeletion on the short arm of chromosome 16. Most affected individuals experience global developmental delay and intellectual disability, as well as childhood-onset obesity. [1] 16p11.2 deletion is estimated to account for approximately 1% of autism spectrum disorder cases. [3] [4]
The International System for Human Cytogenomic Nomenclature (ISCN; previously the International System for Human Cytogenetic Nomenclature) is an international standard for human chromosome nomenclature, which includes band names, symbols, and abbreviated terms used in the description of human chromosome and chromosome abnormalities.
Terminal deletions of chromosome 9q34 have been associated with childhood hypotonia, a distinctive facial appearance and developmental disability. The facial features typically described include arched eyebrows, small head circumference, midface hypoplasia , prominent jaw and a pouting lower lip.
A karyotype of an individual with trisomy 21, showing three copies of chromosome 21. An abnormal number of chromosomes is known as aneuploidy, and occurs when an individual is either missing a chromosome from a pair (resulting in monosomy) or has more than two chromosomes of a pair (trisomy, tetrasomy, etc.).
The CDCA7 gene is located on chromosome 2 (2q31.1). [citation needed] The DNMT3B gene is located on chromosome 20 (20q11.2)). [6] [7] The HELLS gene is located on chromosome 10 (10q23.33) [citation needed] The ZBTB24 gene is located on chromosome 6 (6q21) [citation needed] This disease is inherited in an autosomal recessive manner. [2]
Smith–Magenis syndrome is a chromosomal condition related to low copy repeats of specific segments of chromosome 17. [6] Most people with SMS have a deletion of genetic material from a specific region of chromosome 17 (17p11.2).
ICD-10 is the 10th revision of the International Classification of Diseases (ICD), a medical classification list by the World Health Organization (WHO). It contains codes for diseases, signs and symptoms, abnormal findings, complaints, social circumstances, and external causes of injury or diseases. [1]
Tetrasomy X, also known as 48,XXXX, is a chromosomal disorder in which a female has four, rather than two, copies of the X chromosome.It is associated with intellectual disability of varying severity, characteristic "coarse" facial features, heart defects, and skeletal anomalies such as increased height, clinodactyly (incurved pinky fingers), and radioulnar synostosis (fusion of the long bones ...