- 48,XXYY Klinefelter syndrome
- 48,XXYY variant of Klinefelter's syndrome
- XXYY syndrome
Your QuestionWe just found out that our grandson has 48,XXYY syndrome. We have an appointment with genetic doctors in a couple of weeks. I was wondering if you could give us some information on what to expect and the prognosis for this and what we have to look forward to with him.
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48,XXYY syndrome can affect other parts of the body as well. Males with 48,XXYY syndrome are often taller than other males their age. They tend to develop a tremor that typically starts as a young adult and worsens with age. Dental problems are frequently seen with this condition; they include delayed appearance of the primary (baby) or secondary (adult) teeth, thin tooth enamel, crowded and/or misaligned teeth, and multiple cavities. As affected males get older, they may develop a narrowing of the blood vessels in the legs, called peripheral vascular disease. Peripheral vascular disease can cause skin ulcers to form. Affected males are also at risk for developing a type of clot called a deep vein thrombosis (DVT) that occurs in the deep veins of the legs. Additionally, males with 48,XXYY syndrome may have flat feet (pes planus), elbow abnormalities, allergies, asthma, type 2 diabetes, seizures, and congenital heart defects.
Most males with 48,XXYY syndrome have some degree of difficulty with speech and language development. Learning disabilities, especially reading problems, are very common in males with this disorder. Affected males seem to perform better at tasks focused on math, visual-spatial skills such as puzzles, and memorization of locations or directions. Some boys with 48,XXYY syndrome have delayed development of motor skills such as sitting, standing, and walking that can lead to poor coordination. Affected males have higher than average rates of behavioral disorders, such as attention deficit hyperactivity disorder (ADHD); mood disorders, including anxiety and bipolar disorder; and/or autism spectrum disorders, which affect communication and social interaction.
The condition 48,XXYY is not inherited; it usually occurs as a random event during the formation of reproductive cells (eggs and sperm). An error in cell division called nondisjunction results in a reproductive cell with an abnormal number of chromosomes. In 48,XXYY syndrome, the extra sex chromosomes almost always come from a sperm cell. Nondisjunction may cause a sperm cell to gain two extra sex chromosomes, resulting in a sperm cell with three sex chromosomes (one X and two Y chromosomes). If that sperm cell fertilizes a normal egg cell with one X chromosome, the resulting child will have two X chromosomes and two Y chromosomes in each of the body's cells.
In a small percentage of cases, 48,XXYY syndrome results from nondisjunction of the sex chromosomes in a 46,XY embryo very soon after fertilization has occurred. This means that an normal sperm cell with one Y chromosome fertilized a normal egg cell with one X chromosome, but right after fertilization nondisjunction of the sex chromosomes caused the embryo to gain two extra sex chromosomes, resulting in a 48,XXYY embryo.
- Chen H.. Klinefelter syndrome. Medscape Reference. July 2015; http://emedicine.medscape.com/article/945649-overview.
- Corsini C, Sarda P. 48,XXYY. Orphanet. May 2011; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=10. Accessed 5/2/2012.
- US National Library of Medicine. 48,XXYY syndrome. Genetics Home Reference. January 2010; http://ghr.nlm.nih.gov/condition/48xxyy-syndrome.