Wyniki wyszukiwania - Biblioteka Nauki

1

Bakterie nitkowate w osadzie czynnym - przegląd morfotypów, wyznaczniki morfologiczne i molekularne

100%

Miłobędzka A. , Muszyński A.

Prace Naukowe Politechniki Warszawskiej. Inżynieria Środowiska

|

2014

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tom z. 68

73--92

PL

Bakterie nitkowate w osadzie czynnym tworzą szkielet kłaczków i rozkładają polimery zawarte w ściekach. Przy ich nadmiernym wzroście zmienia się struktura kłaczków i pojawiają się problemy eksploatacyjne - pienienie i pęcznienie osadu. Skuteczne zwalczanie tych zjawisk jest łatwiejsze, gdy uda się zidentyfikować organizmy za nie odpowiedzialne. Klasyczna analiza mikroskopowa pozwala określić jedynie morfotyp bakterii nitkowatych. Metoda ta jest niedoskonała, gdyż dany morfotyp może obejmować kilka typów filogenetycznych o różnych właściwościach ekofizjologicznych, co utrudnia zwalczanie bakterii odpowiedzialnych za pęcznienie osadu. W celu właściwej identyfikacji należy wykorzystać techniki biologii molekularnej, jak np. metodę fluorescencyjnej hybrydyzacji in situ (FISH).

EN

Filamentous bacteria form the backbone of flocs in activated sludge and decompose polymers in wastewater. Their excessive growth results in changes in the structure of the flocs and operational problems - bulking and foaming. The effective control of these phenomena requires a reliable identification of microorganisms causing these problems. Conventional microscopic analysis of activated sludge leads only to a morphotype classification. This method is not perfect because a morphotype may include several phylogenetic ecotypes with different ecophysiological properties. Therefore, the control of bacteria growth responsible for sludge bulking is difficult. Molecular biology techniques, e.g. the method of fluorescence in-situ hybridisation (FISH), should be used for reliable identification.

2

Alternative colour space construction of the stain reaction in FISH image analysis for quantification of the HER2 gene amplification

100%

Markiewicz T. , Cichowicz M.

Przegląd Elektrotechniczny

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2012

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tom R. 88, nr 3a

10-12

EN

The paper presents a study of the different colour representation (intensity of the stain reaction) in FISH images. The better colour visualisation of the centromers and HER2 genes in these methods of the breast cancer stain has a significant influence to correct evaluation of the presence/absence HER2 gene amplification. We taken into account wide range of the image colour representation and propose alternative colour space construction, based on the selected signals in FISH image registration. The proposed approach offers the reduction of the angle between HER2 dots from about 10° to 5.5°.

PL

Artykuł prezentuje analizę różnych reprezentacji barwnych obrazów FISH. Lepsza wizualizacja barwna centromerów i genów HER2 w rozważanym barwieniu preparatów raka sutka ma znaczący wpływ na prawidłowość oceny obecności bądź braku amplifikacji tego genu. W badaniu przeanalizowano wiele reprezentacji barw oraz zaproponowano alternatywny sposób konstrukcji przestrzeni barw, poprzez użycie wybranych sygnałów z rejestracji obrazów FISH. Zaproponowane podejście pozwala zmniejszyć kąt przestrzenny pomiędzy poszczególnymi znacznikami genów HER2 z wartości około 10° do 5.5°.

3

Research on the cultivation of nitrifying bacteria and possibility of the biomass storage

100%

Domańska M. , Hamala K. , Frąszczak M. , Łomotowski J.

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2016

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tom Vol. 9, no. 1

113--118

EN

The efficiency of nitrification has a great influence on the effect of removing nitrogen from wastewater. Problems with the process are associated with reducing the age of activated sludge, lower temperatures of wastewater in aeration chambers, rapid changes in the amount and composition of wastewater containing toxic substances or inhibiting the oxidation of ammonia nitrogen. The research concerned the possibility of cultivation and storage of the nitrifying bacteria biomass, which could be added to the activated sludge in case of a drop of nitrification efficiency. The study showed that even a fouryear- old storage of nitrifying bacteria does not result in their complete destruction.

PL

Sprawność procesu nitryfikacji ma duże znaczenie dla efektu usuwania związków azotu ze ścieków. Problemy z prawidłowym przebiegiem nitryfikacji podczas oczyszczania ścieków pojawiają się przy skróceniu wieku osadu czynnego, niskich temperaturach ścieków w komorach napowietrzania, gwałtownych zmianach składu i ilości ścieków dopływających do oczyszczalni oraz dopływem ścieków zawierających substancje toksyczne lub inhibitujące proces utleniania azotu amonowego. Podjęto badania nad sprawdzeniem możliwości hodowli i przechowywania biomasy bakterii nitryfikacyjnych, którą można byłoby dodawać do osadu czynnego w sytuacjach spadku sprawności nitryfikacji. Przeprowadzone badania wykazały, że nawet 4-letni okres przechowywania bakterii nitryfikacyjnych nie powoduje ich zaniku.

4

Total mercury content in fish from the Gulf of Gdansk

94%

Falandysz J. , Piotrowska M. , Wlodarczyk J. , Chwir A. , Marcinowicz^A. , Marcinowicz A.

Oceanological Studies

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1994

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nr 67/10

59-64

EN

Concentratin of total mercury was determined in muscle tissue of cod Gadus morhua, herring Clupea harengus, eel Anguilla anguilla, calpout Zoarces viviparus, perch Perca fluvitalis, pikeperch Stizostedion lucioperca, sand eel Hyperoplus lanceolatus, round goby Negobius melanostomus, brown trout Salmo trutta, trout Salmo gairdneri, flounder Platychtis flesus, turbot Psetta mazima, smelt Osmerus eperlanus and sculpin Cottus scorpius caught in the Gulf of Gdansk in 1986-1993.The measurements of mercury concentrations were performed by the method of cold vapour atomic absorption spectrmetry (CV-AAS), after wet digestion of samples with concentrated nitric acid.The highest mean concentration of mercury was found in eelpout, the lowest one in pikeperch.The possitive linear correlations has been found between the body length and mercury concentration in perch, eelpout, sand launce and flounder.

5

Karyotypic characterization and NOR analysis by different banding techniques of Rhamdia quelen from the first plateau of the Iguacu River (Brazil)

94%

Fenocchio A. S. , Swarca A. C. , Cestari M. M. , Dias A. L.

Folia Biologica

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2003

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tom 51

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nr 3-4

219-222

EN

A population of R. quelen from the first plateau of the Iguacu River (Parana State, Brazil) was analyzed cytogenetically. A diploid set of 58 chromosomes was constituted by 32 M, 16 SM, 6 ST and 4 A (FN=116). In one individual a 2n=59 karyotype was determined due to the presence of one additional metacentric heterochromatic chromosome. NORs, detected by AgNO3 and CMA3 staining as well as fluorescence in situ hybridization with an 18S rDNA probe, are located at a terminal position on the short arms of a ST chromosome pair. C-banding marks the NORs and other weak bands distributed on telomeric regions of some chromosomes. These results give evidence that Rhamdia constitute, in terms of karyotypic macrostructure, a conserved group and support the idea that several synonymous species may be included in this genus.

6

Turner syndrome mosaicism: an unusual case with a de novo large dicentric marker chromosome: mos 45,X/46,X, ter rea(X;X)(p22.3;p22.3)

94%

Nucaro A. L. , Melis P. , Casini M. R. , Rossino R. , Cau M. , Melis M. A. , Loche S.

Journal of Applied Genetics

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2008

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tom 49

|

nr 3

301-303

EN

X/X translocations are quite rare in humans. The effect of this anomaly on the phenotype is variable and depends on the amount of deleted material and whether the chromosomes are joined by their long or short arms. We report an unusual case of Turner syndrome mosaicism in a 16-year-old girl, who was referred to our Institute for primary amenorrhoea associated with short stature. Endocrine evaluation revealed hypergonadotropic hypogonadism, which required a study of the karyotype. Cytogenetic analysis, performed on peripheral blood leucocytes, showed a mos 45,X/46,X,ter rea (X;X)(p22.3;p22.3) de novo karyotype. The prevalent cell line was 45,X (90% cells). A second cell line (10% cells) showed a very large marker chromosome, similar to a large metacentric chromosome. FISH (fluorescent in situ hybridisation) and molecular analysis revealed that the marker chromosome was dicentric and totally derived from the paternal X chromosome.

7

RYBY A PÔST V ZOBORSKOM KLÁŠTORE PRI NITRE VO SVETLE ARCHEOZOOLOGICKÝCH DOKLADOV

94%

Bielichová Z. , Samuel M. , Hensel K.

Študijné zvesti

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2019

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nr 65

133 - 178

EN

The paper presents the first results of the analysis of archaeo-faunal remains from the monastery at Nitra-Zobor site (SW Slovakia). The majority of the 5201 analysed specimens (five samples) came from the cellar and floors of two monk’s houses from the Camaldulese Monastery of St. Joseph (1693–1782). The remainder originated from areas between the houses (one sample), layers connected to the construction and destruction of the baroque monastery (two samples), a single medieval feature (one sample) and unspecified contexts (two samples). The material is dominated by aquatic or semi-aquatic taxa (97.3%) including fish (Pisces), crayfish (Astacus astacus), otter (Lutra lutra), beaver (Castor fiber) and the European pond turtle (Emys orbicularis). Only freshwater fish such pike (Esox lucius), carp (Cyprinus carpio), Danube catfish (Silurus glanis), sturgeon (Acipenser sp.), tench (Tinca tinca), dace (Leuciscus leuciscus), and bleak (Alburnus alburnus) were identified. Large-sized individuals predominate in the assemblage pointing to the anthropogenic selection of fish, and a wealth of natural resources or favourable artificial fishponds. The representation of skeletal elements from the head, trunk and fin indicate that complete fresh fish were brought to the site. Monks consumed whole or portions of fish (traces of butchery and chewing are recorded). The assemblage from house no. 9 had an exclusively fasting character, while house no. 3 yielded bones of domestic mammals - young sheep/goat, cattle, chicken, goose and turkey. The spatial differences are explained through the context of finds, when in the latter are related with the construction and destruction of the baroque monastery. The meat of domestic mammals was probably consumed in the monastery by service staff and other secular persons that often visited and used local public services.

8

Isolation and chromosomal distribution of a novel Ty1-copia-like sequence from Secale, which enables identification of wheat?Secale africanum introgression lines

94%

Jia J. , Yang Z. , Li G. , Liu C. , Lei M. , Zhang T. , Zhou J. , Ren Z.

Journal of Applied Genetics

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2009

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tom 50

|

nr 1

25-28

EN

A repetitive sequence of 411 bp, named pSaO5411, was identified in the Secale africanum genome (Ra) by random amplified polymorphic DNA (RAPD) analysis of wheat and wheat?S. africanum amphiploids. GenBank BLAST search revealed that the sequence of pSaO5411 was highly homologous to a part of a Ty1-copia retrotransposon. Fluorescence in situ hybridization (FISH) analyses indicated that pSaO5411 was significantly hybridized to S. africanum chromosomes of a wheat?S. africanum amphiploid, and it was dispersed along the Secale chromosome arms except the terminal regions. Basing on the sequence of pSaO5411, a pair of sequence-characterized amplified region (SCAR) primers were designed, and the resultant SCAR marker was able to target both cultivated rye and the wild Secale species, which also enabled to identify effectively the S. africanum chromatin introduced into the wheat genome.

9

B chromosomes in two fish species genus Rhamdia (Siluriformes, Pimelodidae)

94%

Fenocchio A. S. , Bertolo L. A. C. , Takahashi C. S. , Camacho J. P. M.

Folia Biologica

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2000

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tom 48

|

nr 3-4

105-109

EN

Specimens belonging to two fish species genus Rhamdia were cytogenetically analysed from seven localities in Brazil and Argentina. In addition to the 58 chromosomes of the basic karyotype, one to five metacentric B chromosomes were observed carrying conspicuous heterochromatic blocks on the distal regions of both chromosome arms. These B chromosomes are mitotically stable and, in the two best-sampled populations in R. hilarii (Lobo and 29 reservoirs), they showed frequency distributions fitting a binomial distribution, though Bs were more frequent in the latter. The presence of B chromosomes with the same appearance in R. quelen suggests an ancient origin for these B chromosomes, presumably prior to speciation from a common ancestor.

10

Seasonal and daily distribution of commercial and non-commercial fish in shallow inshore waters of the Gulf of Gdansk

94%

Lizinska A.

Oceanological Studies

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2002

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tom 31

|

nr 1-2

31-42

EN

Seasonal and daily changes in the fish community and variations between commercial and non-commercial fish abundance were monitored in the inshore waters of the western part of the Gulf of Gdask (the Sopot territory). Samples were collected from December 1998 to December 1999, though monthly samplings, and supplemented by 24-hour investigations taken every three months, using a two-meter wide trawl. Among the 16 species collected, 5 were commercial and 11 were non-commercial. Juvenile forms of herring and flounder dominated the commercial fish; the highest catches were in March (89 ind. 100 m-2). Among the non-commercial fish, two species of Gobiidae (sand and common goby), and three-spine stickleback were most frequently caught. During the 24hour observations, commercial fish were noticed mostly at night. The investigated area is an important zone for both juvenile commercial fish and some ecologically important uncomercial species.

11

Carotenoid content in Lota lota (L.) individuals in various biological activity periods

94%

Czeczuga B. , Czeczuga-Semeniuk E.

Folia Biologica

|

1999

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tom 47

|

nr 3-4

67-72

EN

The authors investigated the carotenoid content in the particular parts of Lota lota in summer, autumn, and winter, i.e. when burbots exhibit the lowest and highest activity. By means of columnar and thin-layer chromatography, the following carotenoids were found to be presenct: a-carotene, b-carotene, e-carotene, b-cryptoxanthin, neothxanthin, lutein, 3?-epi- lutein, zeaxanthin, tunaxanthin, antheraxanthin, lutein epoxide, echinenone, 3?-hydroxy- echinenone, idoxanthin, canthaxanthin, a-doradexanthin, b-doradexanthin, astaxanthin, diatoxanthin, parasiloxanthin, monadoxanthin, 7,8-dihydroparasiloxanthin, mutatoxanthin and rhodoxanthin. In the Lota lota individuals examined, the content of carotenoids was found to differ in winter and summer. The total carotenoid content ranged from 0.067 (gonads of males) of to 6.095 ?g g-1 wet weight (fins of males from December).

12

Recrutation and settlement of young flounder (Platichthys flesus) in the western part of the Gulf of Gdansk (Baltic)

94%

Sapota M. R. , Kaminska U.

Oceanological Studies

|

1998

|

tom 27

|

nr 3

31-42

EN

On a basis of whole year monthly sampling, the abundance of the flounder in inshore shallow waters of the western part of the Gulf of Gdansk was established. Flounders were observed almost all year. Only in winter, when sea ice forming proc-esses occurred, they disappeared from the investigated zone. The highest abundance of the flounder was noticed in Hel vicinity. No flounders were observed in inshore waters of the Puck Lagoon. Young flounders occurred in the highest number in July (average for all investigated area amounted to 2.81 individuals 100/ m^2). In that month, this-year-born flounders settle in the inshore shallow water zone. The highest biomass was noticed in August (average 4.98 g/100 m^2) when older bigger flounders more frequently inhabited inshore zone. Body proportions of young flounders during their growth in inshore shallow waters of the Gulf of Gdansk are stable. All measured distances were increasing linearly with the growth of flounder length.

13

Additional chromosome in a child as a result of a balanced reciprocal translocation t(12;18)(p13;q12) in his mother's karyotype

94%

Lassota M. , Przelozna B. , Plodzien M. , Bugno M. , Wnuk M. , Kotylak Z. , Slota E.

Journal of Applied Genetics

|

2005

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tom 46

|

nr 4

419-421

EN

In this case report we present a child with an additional chromosome in the karyotype. The karyotypes of the boy and his parents were analyzed by use of a conventional banding technique (GTG) and fluorescence in situ hybridization (FISH). Probes painting whole chromosomes 12 and 18 were used in FISH. Cytogenetic examination of the parents revealed that his mother was carrying balanced reciprocal translocation between chromosomes 12 and 18. Her karyotype was described as 46,XX,t(12;18)(p13;q12). Father's karyotype was normal, described as 46,XY. The boy's karyotype was defined as 47,XY,+der(18)t(12;18)(p13;q12). The additional chromosome appeared probably due to 3:1 meiotic disjunction of the maternal balanced translocation, known as tertiary trisomy. The mother displayed a normal phenotype and delivered earlier a healthy child. However, the boy with the unbalanced karyotype shows multiple congenital abnormalities.

14

Growth of the young flounder (Platichthys flesus) in inshore shallow waters of the Gulf of Gdansk

94%

Sapota M. R. , Mudrak S.

Oceanological Studies

|

1998

|

tom 27

|

nr 3

19-29

EN

The age and rate of growth of the flounder from inshore shallow waters of the Gulf of Gdansk (from shore to 1-m depth) have been investigated. Mainly the flounder from 0 and 1-year age group exists in this zone. Flounders from 0-year age group enter shallow waters of the Gulf of Gdansk in June or July. They stay in this area till the end of the year. Flounders from 1-year age group are represented in the investigated zone all year. Bigger individuals from this group migrate into deeper waters.

15

Infections factors isolated from fish caught in the Gulf of Gdansk and the Vistula lagoon in 1991-1994

94%

Grawinski E. , Dabrowski J. , Potajallo U.

Oceanological Studies

|

1998

|

tom 27

|

nr 4

59-75

EN

The data presents bacteriological virusological investigations results carried out in 1991-1994 in the Gulf of Gdansk and the Vistula Lagoon. The infectious factors study included an identification of bacteria species and orders that are pathogenic to fish and man and also a test on the presence of viruses constituting a potential hazard to man's health. The investigations were a complementary study to the ones carried out in 1981.

16

A brief overview of the applicability of FISH methods in environmental engineering

84%

Piórczyk J. , Jasionowski B. , Stańczyk E.

Structure and Environment

|

2013

|

tom Vol. 5, no. 1

42--45

EN

Fluorescent in situ hybridization (FISH) is a commonly used method for the detection of microorganisms in heterogeneous environment. It is primarily used for quantitative analysis of microorganisms. FISH gives possibilities of evaluating activities of some bacteria and their physiological state in the environment. In the recent years, ftuorescent in situ hybridization has been improved and adapted for the research on environmental samples.

17

Differences in populations of filamentous bacteria involved in foaming and bulking of activated sludge

84%

Miłobędzka A. , Muszyński A.

Challenges of Modern Technology

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2015

|

tom Vol. 6, no. 3

30-33

EN

Bulking and foaming of activated sludge are related to excessive proliferation of a specific group of activated sludge biocenosis – filamentous bacteria. The research was carried out to compare filamentous bacteria populations in foam and activated sludge in a full-scale municipal wastewater treatment plant located near Warsaw (Poland). Fluorescent in situ hybridization (FISH) – a quantitative, culture-independent, molecular method was applied to evaluate the structure of filamentous populations. Activated sludge and foam were examined for the abundance of eleven groups of these microorganisms, which occur in wastewater treatment plants in Europe. Filamentous bacteria constituted 18% and 24% of all bacteria detected in sludge and foam, respectively. The structures of filamentous bacteria populations in sludge and foam were different, although the same bacteria were found in both types of samples. The most abundant filaments belonged to phylum Chloroflexi (targeted by the CFXmix probe) and genus Microthrix (targeted by the MPAmix probe) in sludge and foam, respectively. The third significantly abundant bacteria was Haliscomenobacter hydrossis (targeted by HHY654).

18

Techniki FISH i PCR w badaniach bakterii akumulujących polifosforany

84%

Muszyński A. , Mielczarek A. T. , Nielsen P. H.

Gaz, Woda i Technika Sanitarna

|

2011

|

tom Nr 5

189-193

PL

Identyfikacja PAO występujących w próbkach osadu czynnego pobranych z dwóch duńskich oczyszczalni ścieków. Zbadano strukturę populacji Candidatus Accumulibacter phosphatis na podstawie filogenetycznej analizy genu kinazy polifosforanowej.

EN

Polyphosphate accumulating organisms (PAOs) are the group of microorganisms primarily responsible for effective phosphorus removal from wastewater. Samples of activated sludge from two Danish full scale wastewater treatment plants (WWTPs) were analyzed for their populations of PAOs using Fluorescence In Situ Hybridization (FISH) and Polymerase Chain Reaction (PCR). The investigations showed that PAOs may account for up to 20% of the community biomass in full scale WWTPs. Among two bacterial groups tested, Tetrasphaera turned out to be the dominant PAO in both plants and constituted about 15% of all bacteria in activated sludge.

19

Nowoczesne metody badania bioróżnorodności biocenoz bakteryjnych w środowisku

84%

Karło A. , Ziembińska A.

Chemik

|

2013

|

tom Vol. 67, nr 11

1105--1114

PL

W analizach biocenoz bakteryjnych coraz powszechniej wykorzystywane są techniki biologii molekularnej. Wśród nich można wyróżnić metodę FISH – fluorescencyjnej hybrydyzacji in situ oraz jej modyfikacje (RING-FISH, Clone-FISH, CARDFISH i MAR-FISH). W artykule opisano też technikę elektroforezy w gradiencie denaturacji (DGGE), bazującą na bakteryjnym markerze molekularnym 16S rRNA oraz cystometrię przepływową. Ze względu na dużą przewagę tych metod nad klasycznymi metodami mikrobiologicznymi, wynikającą między innymi z możliwości analizowania próbek pobieranych bezpośrednio ze środowiska, są one stosowane w biotechnologii środowiskowej, np. w badaniach bakteryjnej biocenozy osadu czynnego, biorącej udział w biologicznym oczyszczaniu ścieków. Możliwe jest również użycie kilku metod, których rezultaty są komplementarne i pozwalają na stworzenie całościowego obrazu badanej biocenozy.

EN

Molecular techniques are very popular in microbial laboratories. Among them FISH- fluorescent in situ hybridization (with modifications like: CARD-FISH, MAR-FISH, RING-FISH, Clone- FISH), DGGE – denaturing gradient gel electrophoresis based on 16S rRNA molecular marker and flow cytometry, are the most popular. These analytical methods are commonly use in bacterial biodiversity research. The analysis can be performed directly on the environmental sample, so these procedures are simpler and faster that traditional ones. Therefore, molecular techniques can be used in aqueous bacterial biocenosis research, such as activated sludge, which takes part in biological wastewater treatment. It is also possible to use a set of molecular methods in order to obtain complimentary results to present total bacterial biocenosis picture.

20

Cases of DiGeorge syndrome

84%

Czuj W.

Polish Hyperbaric Research

|

2023

|

tom nr 4(85)

73--82

EN

DiGeorge syndrome is a primary immunodeficiency caused by the abnormal growth of the third and fourth pharyngeal pouches throughout prenatal development. It is typified by a triad: hypocalcemia due to hypoparathyroidism, some heart defects, and thymic hypoplasia or aplasia. This syndrome is associated with a microdeletion in the chromosomal region 22q11.2. DiGeorge syndrome together with other dysfunctions like velo-cardio-facial syndrome and Takao syndrome have overlapping traits. The symptoms are hidden under the name CATCH22. It describes signs like a cardiac defect, abnormal facies, thyme hypoplasia, cleft palate, hypocalcemia, and chromosome 22q11.2 deletions. Its incidence is estimated to be approximately 1:3000 live births. The disorder is inherited in an autosomal dominant pattern or arises from de novo mutation. 22q11.2 microdeletion is associated with an increased risk of developing mental diseases, including schizophrenia. In the general population, 1-2% of people suffer from schizophrenia. In DiGeorge syndrome this ratio is much higher, around 25-30%. Nowadays, the fluorescence in situ hybridization (FISH) is a gold standard method for the diagnosis of microdeletion syndrome. Currently, there is no effective therapy to prevent the development of the disease.

PL

Zespół DiGeorge’a to pierwotny niedobór odporności spowodowany nieprawidłowym rozrostem trzeciej i czwartej kieszonki skrzelowej w okresie prenatalnym. Charakteryzuje się triadą: hipokalcemia spowodowana niedoczynnością przytarczyc, wadami serca oraz hipoplazją lub aplazją grasicy. Zespół jest związany z mikrodelecją prążka chromosomu 22q11. Ten pierwotny niedobór odporności wraz z zespołem podniebienno-sercowo-twarzowym i zespołem Takao posiadają nakładające się cechy. Objawy ukryte są pod nazwą CATCH22. Nazwa opisuje objawy takie jak wady serca, nietypowe cechy twarzy, hipoplazję grasicy, rozszczep podniebienia i delecję chromosomu 22q11.2. Częstość występowania szacuje się na około 1:3000 żywych urodzeń. Choroba jest dziedziczona w sposób autosomalny dominujący lub powstaje w wyniku mutacji de novo. Mikrodelecja 22q11.2 wiąże się ze zwiększonym ryzykiem rozwoju chorób psychicznych, w tym schizofrenii. W populacji ogólnej cierpi na nią 1-2% osób. W Zespole DiGeorge’a wskaźnik ten jest znacznie wyższy i wynosi około 25-30%. Obecnie złotym standardem w diagnostyce zespołu mikrodelecji jest fluorescencyjna hybrydyzacja in situ (FISH). Aktualnie nie istnieje skuteczna terapia zapobiegająca rozwojowi choroby.