Wielohormonalna niedoczynność przysadki u pacjenta z klinicznym rozpoznaniem zespołu Chitayat-Hall

We report an 8-year-old proband with severe motor and intellectual disability presenting a variety of dysmorphic features such as microcephaly, prominent glabella (ridged metopic suture) and congenital distal limb contractures. As well as panhypopituitary insufficiency, brain defects, e.g. agenesis of corpus callosum, colpocephaly, and pachygyria as well as strabismus and tracheo-laryngeal hypoplasia, were diagnosed. Genetic examination revealed a normal karyotype and excluded Wolf-Hirschhorn syndrome and subtelomeric deletions. Chitayat-Hall syndrome was diagnosed based on clinical traits. (Pol J Endocrinol 2010; 61 (3): 318-321)W pracy przedstawiono opis przypadku chorobowego 8-letniej dziewczynki z głębokim opóźnieniem rozwoju psychoruchowego i intelektualnego, prezentującego szereg różnych cech dysmorficznych, takich jak: małogłowie, wydatna gładzizna oraz wrodzone przykurcze dystalnych części kończyn. Ponadto u dziecka rozpoznano wielohormonalną niedoczynność przysadki, wady mózgowia, takie jak: agenezja ciała modzelowatego, nadmiernie szerokie zakręty mózgu oraz kolpocefalia, a także zez, wiotkość krtani i tchawicy. W wykonanych badaniach genetycznych wykazano prawidłowy kariotyp żeński, wykluczono zespół Wolfa-Hirschhorna oraz delecje subtelomerowe, ponadto w porównawczej hybrydyzacji genomowej (CGH) nie wykazano nieprawidłowości. Na podstawie całości obrazu klinicznego postawiono u pacjentki rozpoznanie zespołu Chitayat-Hall. (Endokrynol Pol 2010; 61 (3): 318-321

Prenatal diagnosis--principles of diagnostic procedures and genetic counseling.

The frequency of inherited malformations as well as genetic disorders in newborns account for around 3-5%. These frequency is much higher in early stages of pregnancy, because serious malformations and genetic disorders usually lead to spontaneous abortion. Prenatal diagnosis allowed identification of malformations and/or some genetic syndromes in fetuses during the first trimester of pregnancy. Thereafter, taking into account the severity of the disorders the decision should be taken in regard of subsequent course of the pregnancy taking into account a possibilities of treatment, parent's acceptation of a handicapped child but also, in some cases the possibility of termination of the pregnancy. In prenatal testing, both screening and diagnostic procedures are included. Screening procedures such as first and second trimester biochemical and/or ultrasound screening, first trimester combined ultrasound/biochemical screening and integrated screening should be widely offered to pregnant women. However, interpretation of screening results requires awareness of both sensitivity and predictive value of these procedures. In prenatal diagnosis ultrasound/MRI searching as well as genetic procedures are offered to pregnant women. A variety of approaches for genetic prenatal analyses are now available, including preimplantation diagnosis, chorion villi sampling, amniocentesis, fetal blood sampling as well as promising experimental procedures (e.g. fetal cell and DNA isolation from maternal blood). An incredible progress in genetic methods opened new possibilities for valuable genetic diagnosis. Although karyotyping is widely accepted as golden standard, the discussion is ongoing throughout Europe concerning shifting to new genetic techniques which allow obtaining rapid results in prenatal diagnosis of aneuploidy (e.g. RAPID-FISH, MLPA, quantitative PCR)

Rapid-FISH – fast and reliable method of detecting common numerical chromosomal aberrations in prenatal diagnosis

Abstract Objective: In recent years, new possibilities of prenatal diagnosis have opened up, due to the development of techniques which guarantee shorter time of obtaining results. One of those methods, called Rapid-FISH (rapid fluorescence in situ hybridization), for detecting numerical aberrations of chromosomes 13, 18, 21, X and Y without culturing, enables to have the results in 2-5 days. The time necessary to obtain fetal karyotype result with the usage of the classical cytogenetic methods is about 2-3 weeks and depends mainly on the culture growth rate. Design: The aim of the study was to evaluate the effectiveness of the Rapid-FISH technique in detecting numerical chromosome aberrations of 13, 21, 18, X and Y in amniocytes’ nuclei from amniotic fluid. Materials and Methods: Rapid-FISH and cytogenetic analysis has been performed for 161 pregnancies in the Department of Genetics at Wroclaw Medical University during years 2005 and 2006. The FISH was performed using AneuVysion kit (Vysis), according to a standard protocol. Results: All normal and abnormal results were confirmed by classical cytogenetic method (GTG banding and karyotyping). Additional chromosomal aberrations, not possible to be detected in FISH, were observed in case of two patients with normal results from FISH analysis. Conclusions: Rapid-FISH is a reliable and fast method for detecting numerical chromosomal aberrations in prenatal diagnosis and should be implemented as a routine diagnostic procedure in pregnancies with high risk of fetal aneuploidy (of chromosomes 13, 18, 21, X i Y)

The role of genetic counselling in oncology

All cancers are genetic disorders, but not all genetic disorders are inherited. Most cancers are sporadic, independent events that do not affect other family members. There is a population risk of developing any cancer and it mainly depends on the individual’s age and environmental factors. Cancers linked to predisposition syndromes constitute about 5–10% of all cancer cases. Although it is a small group, making the right diagnosis is important, because of the consequences to the individual, his/her relatives and the benefits they can acquire from surveillance, early therapy and/ or surgical interventions. Genetic counselling plays an important role in diagnosing cancer predisposition syndromes. Hereditary cancer risk assessment includes evaluation of personal and family history, as well as other medical and environmental risk factors. Indications for genetic testing, scope of tests, possible results and their consequences for the patient and his/her family should be discussed

The role of genetic counselling in oncology

All cancers are genetic disorders, but not all genetic disorders are inherited. Most cancers are sporadic, independent events that do not affect other family members. There is a population risk of developing any cancer and it mainly depends on the individual’s age and environmental factors. Cancers linked to predisposition syndromes constitute about 5–10% of all cancer cases. Although it is a small group, making the right diagnosis is important, because of the consequences to the individual, his/her relatives and the benefits they can acquire from surveillance, early therapy and/ or surgical interventions. Genetic counselling plays an important role in diagnosing cancer predisposition syndromes. Hereditary cancer risk assessment includes evaluation of personal and family history, as well as other medical and environmental risk factors. Indications for genetic testing, scope of tests, possible results and their consequences for the patient and his/her family should be discussed

Prenatal diagnosis--principles of diagnostic procedures and genetic counseling.

The frequency of inherited malformations as well as genetic disorders in newborns account for around 3-5%. These frequency is much higher in early stages of pregnancy, because serious malformations and genetic disorders usually lead to spontaneous abortion. Prenatal diagnosis allowed identification of malformations and/or some genetic syndromes in fetuses during the first trimester of pregnancy. Thereafter, taking into account the severity of the disorders the decision should be taken in regard of subsequent course of the pregnancy taking into account a possibilities of treatment, parent's acceptation of a handicapped child but also, in some cases the possibility of termination of the pregnancy. In prenatal testing, both screening and diagnostic procedures are included. Screening procedures such as first and second trimester biochemical and/or ultrasound screening, first trimester combined ultrasound/biochemical screening and integrated screening should be widely offered to pregnant women. However, interpretation of screening results requires awareness of both sensitivity and predictive value of these procedures. In prenatal diagnosis ultrasound/MRI searching as well as genetic procedures are offered to pregnant women. A variety of approaches for genetic prenatal analyses are now available, including preimplantation diagnosis, chorion villi sampling, amniocentesis, fetal blood sampling as well as promising experimental procedures (e.g. fetal cell and DNA isolation from maternal blood). An incredible progress in genetic methods opened new possibilities for valuable genetic diagnosis. Although karyotyping is widely accepted as golden standard, the discussion is ongoing throughout Europe concerning shifting to new genetic techniques which allow obtaining rapid results in prenatal diagnosis of aneuploidy (e.g. RAPID-FISH, MLPA, quantitative PCR)

Selected syndromes of hamartomatous polyposis of the gastrointestinal tract – clinical and genetic aspects

Hamartomatous polyp syndromes are a clinically and genetically heterogenous group of rare disorders that fall into the category of inherited predisposition to cancer. They include Peutz-Jeghers syndrome, Cowden syndrome, juvenile polyposis and mixed hereditary polyposis. Although the shared common characteristic is the presence of multiple po­lyps in the gastrointestinal tract, they differ by the number, age of onset and histopathological features of the polyps, clinical picture and presentation, as well as the approach to genetic testing. With the recognition of the importance of providing high quality medical care, that is equal diagnostic and therapeutic opportunities to patients with rare disorders (Uchwała nr 110 Rady Ministrów z dnia 24 sierpnia 2021 r. w sprawie przyjęcia dokumentu „Plan dla chorób rzadkich”), the authors would like to present the essential (fundamental) aspects of the above-mentioned syndromes