Geographical Distribution, Incidence, Malignancies, and Outcome of 136 Eastern Slavic Patients With Nijmegen Breakage Syndrome and Founder Variant c.657_661del5.

Nijmegen breakage syndrome (NBS) is a DNA repair disorder characterized by combined immunodeficiency and a high predisposition to lymphoid malignancies. The majority of NBS patients are identified with a homozygous five base pair deletion in the ( gene (c.657_661del5, p.

[Molecular genetic diagnosis and clinical features of hereditary neuropathy with liability to pressure palsies in Belarusian patients].

Objective: To analyze the molecular defect, a phenotype of hereditary neuropathy with liability to pressure palsies (HNPP, OMIM 162500), in patients with PMP22 gene mutation caused by 1.5 Mb deletion at 17p11.2.

Two siblings with immunodeficiency, facial abnormalities and chromosomal instability without mutation in DNMT3B gene but liability towards malignancy; a new chromatin disorder delineation?

Background: ICF syndrome (standing for Immunodeficiency, Centromere instability and Facial anomalies syndrome) is a very rare autosomal recessive immune disorder caused by mutations of the gene de novo DNA-methyltransferase 3B (DNMT3B). However, in the literature similar clinical cases without such mutations are reported, as well.

Results: We report on a family in which the unrelated spouses had two female siblings sharing similar phenotypic features resembling ICF-syndrome, i.

Paternally derived der(7)t(Y;7)(p11.1 approximately 11.2;p22.3)dn in a mosaic case with Turner syndrome.

An unusual mosaic karyotype was detected in a 6-year-old female patient with clinical diagnosis of Turner syndrome (TS). Cytogenetic and molecular cytogenetic studies revealed besides a cell line with 45,X a second cell line where the short arm of the Y-chromosome was translocated onto the short arm of a chromosome 7; karyotype: 45,X,der(7)t(Y;7)(p11.1 approximately 11.

[Inhibition of peroxidase-catalyzed oxidation of chromogenic substrates by propyl gallate and its polydisulfide].

Peroxidase-catalyzed oxidation of 2,2'-azino-di-(3-ethyl-2,3-dihydrobenzthiazoline-6-sulfonate) (ABTS) was competitively inhibited by propyl gallate (PG) and its polydisulfide (PGPDS) at 20 degrees C in 0.015 M phosphate-citrate buffer (pH 6.0).

Tetrasomy 12pter-12p13.31 in a girl with partial Pallister-Killian syndrome phenotype.

A dysmorphic patient was shown to carry a small supernumerary marker chromosome. Multicolor, centromere-multicolor and regular FISH experiments proved the marker to be an analphoid 12pter derived isochromosome. Microdissection of the marker followed by reverse painting and array CGH analysis showed that the isochromosome contains approximately 6 Mb of 12pter-12p13.

Inhibition of peroxidase-catalyzed oxidation of 3,3 ,5,5 -tetramethylbenzidine by aminophenols.

Peroxidase-catalyzed oxidation of 3,3 ,5,5 -tetramethylbenzidine (TMB) was inhibited by o-aminophenol (AP), 2-amino-4-tert-butylphenol (ATBP), 2-amino-4,6-di-tert-butylphenol (ADTBP), and 4-tert-butylpyrocatechol (TBP). Inhibitors were characterized by inhibition constant K(i) and stoichiometric coefficient f, the number of radicals terminated by one inhibitor molecule. The most efficient inhibitor is ADTBP characterized by K(i) = 36 microM in 0.

Pallister-Killian syndrome: rapid decrease of isochromosome 12p frequency during amniocyte subculturing. Conclusion for strategy of prenatal cytogenetic diagnostics.

Pallister-Killian syndrome (PKS) is characterized cytogenetically by mosaic tetrasomy of chromosome 12p. Routine prenatal diagnosis of PKS is still complicated because of the difficulties of discriminating between the supernumerary isochromosome 12p and the duplication 21q and because of the variable level of mosaicism. The frequency of cells with an extra metacentric chromosome i(12)(p10) is usually determined by tissue-limited or tissue-specific mosaicism.

[Inhibition of the peroxidase-catalyzed oxidation of chromogenic substrates by alkyl-substituted diphenols].

A comparative kinetic study of the peroxidase oxidation of three chromogenic substrates--2,2'-azino-bis(3-ethyl-2,3-dihydrobenzothiazoline-6-sulfonic acid), o-phenylenediamine (PDA), and 3,3',5,5'-tetramethylbenzidine--inhibited by trimethylhydroquinone and six tert-butylated pyrocatechols (InH) was carried out at 20 degrees C in 0.015 M phosphate-citrate buffer (pH 6.0) containing organic cosolvents (0-10% ethanol or DMF).

[Inhibition of peroxidase oxidation of aromatic amines by substituted phenols].

Peroxidase-catalyzed oxidation of o-phenylene diamine (OPD) was competitively inhibited by trimethylhydroquinone (TMHQ), 4-tert-butylpyrocatechol (In5), and 4,6-di-tert-butyl-3-sulfanyl-1,2-dihydroxybenzene (In6). In6 was the most efficient inhibitor (Ki = 11 microM at 20 degrees C in 0.015 M phosphate-citrate buffer, pH 6.

Activation of peroxidase-catalyzed oxidation of aromatic amines with 2-aminothiazole and melamine.

The peroxidase-catalyzed oxidation of 3,3;,5,5;-tetramethylbenzidine (TMB), ortho-phenylenediamine (PDA), and 5-aminosalicylic acid (5-ASA) is significantly accelerated in the presence of 2-aminothiazole (AT) and melamine (MA), and an increase in their concentrations is associated with a parallel increase in the k(cat) and K(m) values for TMB and PDA. The activation of the peroxidase-catalyzed oxidation of TMB and PDA is quantitatively characterized by a coefficient (degree) alpha (M(-1)) which significantly depends on pH in the range 6.2-6.

[Noncompetitive activation of peroxidase oxidation of o-phenylenediamine by melamine].

Peroxidase-catalyzed oxidation of o-phenylenediamine (PDA) is greatly activated with melamine (MA) in 15 mM phosphate-citrate buffer at pH 6.0-7.4 in a noncompetitive manner: kcat and Km increase in direct proportion to the MA concentration.

Further delineation of the branchio-oculo-facial syndrome.

We review 43 patients (15 new, 28 literature) with the branchio-oculo-facial (BOF) syndrome, which has a distinctive phenotype ranging from mild to severe forms, consisting of eye, ear, oral, and craniofacial anomalies. Virtually ubiquitous and possibly pathognomonic are the cervical/infra-auricular skin defects. Much less common are supra-auricular defects occurring as isolated anomalies or with cervical defects.

Trisomy 2p: analysis of unusual phenotypic findings.

We present three probands with partial trisomies 2p21-23 due to ins(4;2)(q21;p21p23) pat, 2p23-pter due to t(2;4)(p23;q35)mat, and 2p21-pter due to t(2;11)(p21;q23.3)mat. More than 50 cases of partial trisomy 2p have been reviewed and some abnormalities, unusual for most other types of structural autosomal imbalance, have been found in patients with inherited forms of 2p trisomy and in their non-karyotyped sibs.

The acrocallosal syndrome: expansion of the phenotypic spectrum.

A family demonstrating the acrocallosal syndrome in a female proband whose sister had anencephaly is described. Two similar cases were found in the literature (Gelman-Kohan et al., 1991; Cataltepe and Tuncbilek, 1992).

[Translocation 11q;22q: a clinico-cytogenetic study].

Seven families with translocations t(11; 22) identified at our Institute and analysis of the literature showed that the imbalance resulted from such translocations is always due to nondisjunction 3:1. Nondisjunction occurs more often in the 1st meiotic division, and is more rare in the second one. Expressed prezygotic selection against spermia with an additional chromosome greatly increases the risk of having an imbalanced child for the women-carriers as compared to men-carriers.