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Chromosome 15q,partial deletion,growth issues

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General & Family Physician
Practicing since : 2010
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my son has Chromosome 15q, partial deletion who is 6 yearsold now but i dont think he has pws but has grow issues and is behind in school what kind of life can i expect for him
Posted Sun, 22 Apr 2012 in Child Health
Answered by Dr. Tulasi Raman.P 1 hour later

Thank you for the query.

Normally, each parent passes down a copy of a chromosome to their children. Depending on whether the missing genetic material is from the father (paternal) or mother (maternal) of chromosome 15, the affected child can present with either of the two syndromes.

1. Prader-Willi Syndrome
2. Angelman Syndrome

Prader-Willi Syndrome:
The affected child may presents with severe hypotonia at birth, obesity, short stature (responsive to growth hormone), small hands and feet, hypogonadism, mental retardation.

Affected children have an intense craving for food and will do almost anything to get it. This results in uncontrollable weight gain and morbid obesity which may lead to lung failure with low blood oxygen levels, right-sided heart failure etc.

Treatment of this condition are-
1. Obesity represents the greatest problem to health. Limiting caloric intake will control the obesity.
2. Growth hormone has also been shown to improve physical strength and agility in such patients.

Angelman Syndrome
These children appear normal at birth, but often have feeding problems in the first months of life and exhibit noticeable developmental delays by 6 to 12 months. Seizures often begin between 2 and 3 years of age. Speech impairment is pronounced. They often display hyperactivity, small head size, sleep disorders, and movement and balance disorders that can cause severe functional deficits.

1. Medical therapy for seizures is usually necessary.
2. Physical and occupational therapies, communication therapy, and behavioral therapies are important in allowing such individuals to reach their maximum developmental potential.

Prognosis (for both the conditions)
Though these patients can have normal life span, the associated conditions like low IQ, delayed mental development etc will affect the quality of life. So, early diagnosis and tailored interventions and therapies help improve quality of life.

I hope my answer has been adequate and informative. If you have any follow up queries I will be available to answer them.

Above answer was peer-reviewed by
Follow-up: Chromosome 15q,partial deletion,growth issues 6 hours later
i understand pws its the learning difficuties and should i be asking for growth hormone for him he's nearly 7 and the size of a 3 year old will he get to an adult height without it also epilepy is a cancern
Answered by Dr. Tulasi Raman.P 5 hours later

Thanks for writing back to me.

Specific question and here is my to the point answer,

The use of growth hormone in PWS is suggested by some studies. It generally helps in body composition and growth. It also aids in attaining better height. You can discuss about it with your doctor. Remember GH is only a supplemental therapy.

For more details you can read here, WWW.WWWW.WW
Epilepsy is a concern yes.

Hope I answered your questions.
Above answer was peer-reviewed by
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