What causes it?:
What causes it? When a male child has two x chromosomes and one y There are several other variants additional X chromosomes or additional X and Y chromosomes Mosaicism – where some cells have the extra Xs and some do not No one knows why this occurs
What are the signs or symptoms?:
What are the signs or symptoms? Physical Don’t often appear different Lack of facial or body hair Breast enlargement Pear shaped body Taller and heavier than their brothers Low muscle tone Infertility Slight increase in occurrence of autoimmune disorders Developmental Often quiet, “easy,” or passive infants May be shy Language delay Speak later Receptive language is close to normal Difficulty with reading and writing Some level of MR is possible Decreased immediate auditory memory
How is it diagnosed?:
How is it diagnosed? Diagnosed at different points for various reasons Prenatal testing Early childhood Adolescence Adulthood Karyotype is needed
Just how rare is it?:
Just how rare is it? Likely very under diagnosed 1:500 males Other sex related chromosomal disorders are even less frequent 48, XXYY and 48, XXXY are 1: 17,000-50,000 males 49, XXXXY is 1:85,000 – 100,000 males
Where to go for more:
Where to go for more The National Institute of Health Great info How to tell others When and how to explain the condition to your child American Association for Klinefelter Syndrome Information and Support Conferences Brochures
References:
References American Association for Klinefelter Syndrome Information and Support (2011). AAKSIS. Retrieved from: www.aaksis.org Block, R. (1993). Understanding Klinefleter Syndrome: A guide for XXY males and their family. Retrieved from: http://www.nichd.nih.gov/publications/pubs/klinefelter.cfm Klinefelter Syndrome Information and Support. (2012). Retrieved from: http://klinefeltersyndrome.org/ Visootask , J. & Graha , J.M. (2006). Klinefelter syndrome and other sex chromosomal aneuplodies . doi: 10.1186/1750-1172-1-42. Retrieved from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1634840/ Thanks to a special momma that granted permission for pictures to be used but asked that her son remain unnamed!