Question

how do we do this? explain please?

V. Using bioinformatics to determine if there are disorders associated with chromosomal aberrations. (2 pts) For your chosen chromosomal aberration (from section V of the lab instructions, not from your karyotype board!): Nomenclature: One Associated syndrome: Phenotype MIM number Summary of the clinical features of the disorder:

Answer 1

Chromosomes are packaged DNA molecules which form genetic material of organisms. Chromosomes transfer genetic information of organism from one generation to other. Chromosomal aberration is responsible for many human genetic diseases and is caused due to deletion, addition or irregular arrangement of chromosomal DNA.

Chromosomal Abberation: 9q34.3

Nomenclature: 9q34.3. (The abbe ration is caused due to microdeletion of subtelomeric region in chromosome 9. q denotes that deletion occurred at distal end of long arm of chromosome.)

Phenotypic MIM number: 610253

Associated Syndrome: Kleefstra Syndrome.

Clinical feature of disorder: Kleefstra syndrome is a genetic autosomal dominant disorder, caused by mutation in gene Euchromatic histone-lysine N-methyltransferase 1 (EHMT1) which is located in 9q34.3 of chromosome. This gene encodes for protein histone methyltransferase which is involved in transcription repression. Kleefstra syndrome is rare genetic disorder which affects different parts of body. The major clinical features of syndrome includes, mental retardation, intellectual disability, hypotonia, hypoplasia, delayed motor skill development, distinctive facial appearance such as protruding tongue, brachycephaly, prognathism, hypertelorism etc.