Lessons from Microdeletion syndromes

Lessons from Microdeletion syndromes

I. Retinoblastoma

The first clue to the location of the gene was that 5% of children with retinoblastoma had other abnormalities, such as learning disabilities.

In them, the intermediate deletion of the area on chromosome 13 was determined. In the q1413 region, the autosomal dominant leukemia is retinoblastoma.

II. Wilms tumor

Children with neonatal neoplasms or Wilms' tumor (hypernephroma) are associated with aniridia (lack of iris), genitourinary abnormalities, and growth retardation, known as WAGR syndrome.

 Chromosomal analyzes show the intermediate deletion of the q1311 chromosome and molecular studies show the removal of several genes in this area.

 The pax6 gene responsible for aniridia and the WT1 gene responsible for Wilms' tumor are located in this area.

III. Engelman and Prader Syndromes - Willie:

Angelman's children have disproportionate laughter, seizures, poor coordination (ataxia), and learning difficulties. Prodigal children - Willie is associated with hypotension, obesity and learning difficulties.

Most of these children have small deletions in the q11-1315 area. The removal of the Prader-Willy paternal chromosome and the removal of the same area of ​​the maternal chromosome cause Angelman syndrome.

 In cases where there is no elimination, the single parental dyslexia of the father (Angelman) and the maternal (parent-Willie) cause the disease. These modes are essential for understanding genomic role-playing.

IV. DiGeorgia / Vodka Cardiovascular Syndrome (VCFS) Syndrome

DiGeorge syndrome is the most common microscopic syndrome and affects approximately 1 in 4,000 births sporadically.

 It is characterized by cardiac abnormalities and hypoplasia of the thymus and parathyroid gland. The long arm of chromosome 22 is involved in q11.222.

 The deleted piece is called the DJCR critical area. Patients are able to reproduce and have an inherited pattern of autosomal dominant disease.

Elimination of 3MB is due to the presence of two low-repetition areas (LCR) on both sides of the deletion. During meiosis, due to incorrect pairing of chromosomes and recombination between these two regions, 3MB deletion occurs.

Many phenotypic symptoms are related to TBX1 gene haplogenase failure.

In order to diagnose these people, it is important to look for heart abnormalities in calcium and parathyroid function of the immune system and kidney abnormalities.

 Half of these people are short and some have growth hormone deficiency, and some (at least 25%) show symptoms of quasi-schizophrenia.

V. Doubling q11.222

Double mating LCR in q11.222 elimination syndrome also results in double gametes that are identified by FISH testing.

There is no set phenotype for duplication. ”In some cases, the symptoms are similar to the removal, which is very varied.

From learning difficulties to multiple anomalies with congenital heart disease, cleft palate, deafness and postpartum growth retardation.

VI. Williams or Williams-Bourne syndrome

This syndrome is related to the small removal of the q117 chromosome. Hypercalcemia in childhood is characterized by supraventricular aortic stenosis (SVAS) and pulmonary artery stenosis.

 Haplo q117 deficiencies cause the loss of the elastin encoding gene, which is the main cause of vascular problems.

Patients with a certain short stature, large lower lip, sloping shoulders, in an extroverted childhood (known as a cocktail party) and gradually become more sensitive and isolated with age.

 Most have learning difficulties and no reproductive power.

VII. Smith's Syndrome - Magnesium

This syndrome is caused by the loss of p11.217. As with DJ George's syndrome, the mechanism of elimination occurs by homologous recombination between LCRs attached to this area.

 Physical characteristics are not clear, but they include congenital heart disease, scoliosis, hearing loss, short filtroma, self-harm, and intermittent sleep.

VIII. Ip36 Elimination Syndrome

Symptoms include hypotension, microcephaly, growth retardation, severe learning problems, epilepsy (including neonatal spasms), straight eyebrows, sunken eyes, and middle facial hypoplasia.

Other microsurgery syndromes include Langer-Gideon (chromosome 8), Robin Stein-Taybi (chromosome 16). Miller named Dicker (chromosome 17).

Multi-telomere prop and learning problems:

The use of sub-telomere props is effective in examining people with learning disabilities. According to observations, the unbalanced displacements are small and related to the telomere telomere terminals.

 These abnormalities are seen in 5% of people, but in people with severe learning difficulties, this rate increases.

Half of the cases are spontaneous and half are familial. Today, the MLPA technique has replaced FISH telomere props.

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