1p36 Deletion Syndrome

1p36 deletion syndrome: Description, Causes, and Risk Factors:

1p36 deletion syndrome is a chromosome disorder. A chromosome disorder is a change in chromosome number or structure which results in a set of features or symptoms. People with 1p36 deletion syndrome have lost a small but variable amount of genetic material from one of their 46 chromosomes.

1p36 deletion syndromePeople with 1p36 deletion syndrome have one intact chromosome 1 (human chromosome 1 is the largest human chromosome. This metacentric chromosome, which contains 8% of the genetic material in the genome, is characterized by several gene clusters, including the epidermal differentiation complex, and genes predisposing to a large number of human diseases), but the other is missing a tiny piece which affects their learning and physical development in relatively predictable ways. Most of the clinical difficulties are probably caused by the presence of only one copy (instead of the usual two) of a number of genes. However, a child's other genes and personality also help to determine future development, needs and achievements.

1p36 deletion syndrome was described for the first time in the late 1990s, although the first case of a child with a deletion of 1p36 was published in 1981. The disorder is now believed to affect one in 5,000 p arm newborn babies, making 1p36 deletion syndrome one of the most commonly observed chromosome deletion disorders.

The incidence of 1p36 deletion syndrome has been estimated to be 1 in 5,000 to 1 in 10,000 liveborn children. However, a higher incidence is plausible due to under-ascertainment before the development of FISH and subtelomeric probes screening. To date, more females than males have been reported.

Symptoms:

There are other problems (symptoms) that many individuals with 1p36 deletion syndrome develop:

About 90% have severe learning disabilities.
  • About 75% will have no ability to form words, the other approximate 25% will only develop a few words or phrases.
  • About 70% develop types of heart problems.
  • About 50% will develop seizures, behavior problems, and hearing problems.
  • Other problems such as weak muscle tone, breathing problems, eye problems, swallowing problems, genital malformations (usually minor in males), and metabolic problems have been reported

Diagnosis:

1p36 deletion syndrome is diagnosed through special genetic testing and confirmed by the detection of a deletion of the most distant band of the short arm of the chromosome.

Tests may include: A renal ultrasound should be carried out soon after diagnosis. Children who have malformations of the kidneys have an increased risk of urinary tract infections.
  • A brain scan is performed using EEG (electroencephalogram) and magnetic resonance imaging (MRI). The EEG assesses the risk for seizures and an MRI scan detects brain abnormalities. Some epilepsy can be treated with antiepileptic drugs and seizures can often be controlled.
  • Palatal evaluation should be carried out early, as even minor palatal cleft deformities may cause eating problems. Cleft lip and palate repair can require several surgical interventions.

Treatment:

The management of 1p36 monosomy includes a comprehensive evaluation for the major clinical complications with an echocardiogram and ophthalmologic examination. A full audiological evaluation should be performed including testing at high frequencies with follow up as some patients have had progressive hearing loss. An electroencephalogram and cranial magnetic resonance imaging (MRI) are also warranted. Testing for thyroid dysfunction with T4, free T4 and TSH levels at birth, six months of age and annually has been recommended. Palatal evaluation and swallow function studies should be included in the initial evaluation.

Developmental assessments with speech, physical and occupational therapist interventions are required. Developmental pediatricians, cardiologists, neurologists, cleft lip and palate specialists, orthopedists, otolaryngologists and nutritionists should also be involved as appropriate.

NOTE: The above information is for processing purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.

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