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Wrocław, Poland

The incidence of numerical chromosome aberrations is about 5% during the entire pregnancy, and about 0.2% in live-born infants. Most commonly observed numerical aberrations in live births are trisomies of chromosomes 13, 18, 21, X and Y and monosomy of the X chromosome. It is estimated that approximately 70-80% of newborns with aneuploidies are born by women who did not present obvious risk factors, therefore, according to a recent recommendation by PTG, prenatal diagnosis increasing the detection of fetal aneuploidy should be offered to the entire population of women. Due to the risk of complications associated with invasive tests and a large number of unnecessarily performed tests of this type, it is postulated that invasive diagnostics should be used in very specific cases, and a non-invasive diagnostics should have a screening character. Non-invasive diagnostics include: 1) detailed ultrasonography performed in 11-13(+6 days) hbd and in 18-24 hbd; 2) biochemical tests: PAPP-A (first-trimester test) and the triple test (second-trimester test) and less frequently performed: double, quadruple, and integrated tests. High detection rate of chromosomal aberrations in non-invasive tests (at least 75%, with no more than 5% risk of obtaining false positive results) and lack of procedure-related pregnancy losses constitute the advantage of noninvasive prenatal diagnosis. © Polskie Towarzystwo Ginekologiczne. Source

The Smith-Magenis syndrome (SMS) is a rare microdeletion dysmorphic syndrome (interstitial microdeletion of chromosome 17p11.2), which occurs sporadically. Mutations in the RAI1 gene are found in part of the patients. SMS is characterized by intellectual disability and behavioural disturbances (sleep disturbances, hyperactivity, attention deficit, self-injury behaviour), craniofacial dysmorphism and defects of other organs and systems (teeth, eyes and upper respiratory and hearing disturbances, short stature, brachydactyly, scoliosis, cardiac and genitourinary defects). There are also neurological problems (muscular hypotonia, peripheral neuropathy, epilepsy and decreased sensitivity to pain). Many of the features that appear in the SMS may occur in other genetic syndromes, which may cause diagnostic difficulties. We report two cases of late diagnosed patients with the Smith-Magenis syndrome. Additionally, we present a review of literature and differential diagnosis. This may help in making the diagnosis and in giving optimal medical and psychological care to patients with SMS. Source

Genetic instability is one of the characteristic features of cancer cells and it can be observed as (i) chromosomal instability (CIN) with high number of breaks and/or numerical and structural chromosome aberrations (ii) molecular instability with microsatellite instability (MSI) - as an alteration of allele length due to change of the number of nucleotide repeats and/or allelic instability as loss of heterozygosity (LOH) - loss of one of two examined alleles and/or (iii) epigenetic instability due to DNA methylation pattern abnormalities, chromatin structure alterations or histone proteins modifications. Genetic instability can be examined using a variety of laboratory techniques such as classical cytogenetics (G-banding), molecular cytogenetics (FISH, m-FISH, SKY, M-banding-FISH, CGH) and biology molecular methods. In recent years a number of studies have shown a correlation between genetic and epigenetic instabilities and cancer development and progression. The results of these studies allow for a better understanding of the genetic basis of cancer development and are helpful in cancer diagnostics and treatment. Source

Kaczorowska-Hac B.,Klinika Pediatrii | Alska A.,Klinika Pediatrii | Haus O.,Katedra i Zaklad Genetyki | Droniewska M.,Katedra i Zaklad Genetyki | And 3 more authors.
Pediatria Polska | Year: 2011

Fanconi anemia is a genetic disease in which chromosome instability leads to bone marrow failure and increased susceptibility to malignancies. Mostly described in children with characteristic multiple congenital anomalies. We present a girl with short stature, hypoplastic both thumbs, congenital heart defect (after surgery), which presented leukopenia. The clinical suspicion of Fanconi anemia was confirmed by cytogenetic test for increased chromosomal breakage in the presence of mitomycin C. © 2011 Polish Pediatric Society. Source

Feeding disorder, failure to thrive as well as growth retardation are a complex multidisciplinary problem with heterogeneous etiology. Dysmorphic syndromes with different pathogenesis, hereditary and clinical course are a reason of feeding problems in small children and finally of growth retardation. Chosen dysmorphic syndromes with leading symptoms such as failure to thrive, feeding difficulties and growth retardation are described in this article. Copyright © 2012 Cornetis. Source

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