Explanation

Klinefelter’s syndrome. [table] Disorders | Autosomal/Sex Linked | Symptoms | Effects ; Down’s syndrome | Autosomal aneuploidy (trisomy, +21) | Mongolian eyefold (epicanthus), open mouth, protruded tongue, projected lower lip, many loops on finger tip, palm crease | Retarded mental development IQ (below 40) ; Turner’s syndrome | Sex chromosomal monosomy 44 + XO | Short stature females (<5’), webbed neck, body hair absent menstrual cycle absent. Sparse pubic hair, underdeveloped breasts narrow lips puffy fingers | Sterile hearing problem ; Klinefelter’s syndrome | Sex chromosomal aneuploidy (tri/tetrasomy of X chromosome) 44+XXY 44+XXXY | The males are tall with long legs, testes small, sparse body hair, Barr body present, breast enlargement | Gynaecomastia azospermia sterile [/table] Some Examples of Aneuploidy (i) Down’s syndrome-21 trisomy Symptoms (a) Short statured with small round head (b) Partially open mouth with protruding furrowed tongue (c) Palm is broad with characteristic palm crease (d) Slow mental development (ii) Turner’s syndrome Cause Absence of one of the X-chromosomes, resulting in the karyotype 44+XO Symptoms (a) Sterile female with rudimentary ovaries (b) Shield-shaped thorax (c) Webbed neck (d) Poor development of breasts (e) Short stature, small uterus, puffy fingers (iii) Klinefelter’s syndrome Cause Presence of an additional copy of X-chromosome resulting in the karyotype 44+XXY Symptoms (a) Sex of the individual is masculine but possess feminine characters (b) Gynaecomastia, i.e., development of breasts (c) Poor beard growth and often sterile (d) Feminine pitched voice