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[Rh, Du phenotype in the pregnant woman].

The Rh, Du blood phenotype occurs rarely in the white population (0.23-0.60%). Its clinical significance is whether it should be considered it as Rh positive or negative. A pregnant woman with blood type Rh, Du (+), who delivered an Rh D (+) baby and was not given Rh immune globulin is presented. The Du antigen is manifested by weak expression of the D gene on the RBC envelope, and therefore Rh Du (+) is considered Rh (D) positive. An exception to this rule is the occurrence of transplacental fetomaternal bleeding in an Rh negative mother carrying an Rh positive fetus, when blood is typed clos…

Expanded phenotype and ethnicity in Setleis syndrome.

Setleis syndrome, an autosomal recessive disorder characterized by "coarse" face, temporal cutis aplasia, double upper eyelashes, absent lower eyelashes, chronic conjunctivitis, and prominent thick lips, was reported previously in 8 Puerto Rican children. We report on 3 unrelated children (one mentally retarded) with Setleis syndrome who are not of Puerto Rican descent. Two of our patients had imperforate anus, which has not previously been reported. The evolution of the phenotype over time is illustrated.

Phenanthrene-degrading phenotype of Alcaligenes faecalis AFK2.

A phenanthrene-degrading bacterium that assimilated a wide range of organic compounds was isolated from a soil sample and identified as Alcaligenes faecalis strain AFK2. The strain degraded phenanthrene through protocatechuate, but did not utilize naphthalene. The phenanthrene-degrading phenotype (Phn+) of AFK2 disappeared after 20 successive subcultures in a mineral salts medium containing o-phthalate or after subculture in nutrient broth containing mitomycin C. The results suggested that the Phn+ phenotype of this strain might be encoded by extrachromosomal genes.

The membrane phenotype of T-prolymphocytic leukaemia.

Cells from 13 cases of T-prolymphocytic leukaemia (T-PLL) were studied with a battery of immunological techniques in order to define their membrane phenotype. All cases were E-rosette positive and were negative with OKT6, anti-HLA-DR, anti-Ig and M-rosettes; in 3, 20-30% of the cells had receptors for C3b. 7 cases had predominantly a 'helper/inducer' T-subset phenotype, (OKT4+, OKT8-) and 4 had a 'suppressor/cytotoxic' phenotype (OKT8+, OKT4-). Cells in 2 cases coexpressed OKT4 and OKT8 in 48% and 95% of prolymphocytes and in another, both OKT4 and OKT8 were negative. Terminal transferase (TdT…

[Balanced translocations with abnormal phenotype (author's transl)].

Four cases of balanced translocations with phenotype abnormalities are reported. Three of them are reciprocal translocation, one is a Robertsonnian translocation. The consequences of the phenomene on genetic counselling and prenatal diagnosis are discussed.

Favism: association with erythrocyte acid phosphatase phenotype.

The frequency of carriers of the P(a)and P(c) alleles of the gene for acid phosphatase in the erythrocyte is significantly higher in male subjects deficient in glucose-6-phosphate dehydrogenase and having hemolytic clinical favism than it is in the general population. This observation seems to indicate that alleles (P(a) and P(c)) of a gene polymorphic in all human populations affect the fitness of the involved phenotypes in special genotypic and nongenotypic conditions.

Understanding the schizophrenia phenotype in the first patient with the full SCN2A phenotypic spectrum.

The sodium voltage-gated channel α subunit 2 (SCN2A) gene encodes a subunit of sodium voltage-gated channels expressed primarily in the central nervous system that are responsible for action potential initiation and propagation in excitable cells. SCN2A mutations underlie a spectrum of distinct phenotypes, including seizure disorders, neurodevelopmental disorders, and rarer instances of episodic ataxia and schizophrenia. We report on a 38-year-old patient with adult-onset psychotic symptoms on a background of infantile-onset seizures, autistic features and episodic ataxia. Whole-exome sequenci…

Novel variants and phenotypes widen the phenotypic spectrum of GABRG2-related disorders.

PURPOSE: Next-generation sequencing (NGS) has made genetic testing of patients with epileptic encephalopathies easier - novel variants are discovered and new phenotypes described. Variants in the same gene - even the same variant - can cause different types of epilepsy and neurodevelopmental disorders. Our aim was to identify the genetic causes of epileptic encephalopathies in paediatric patients with complex phenotypes. METHODS: NGS was carried out for three patients with epileptic encephalopathies. Detailed clinical features, brain magnetic resonance imaging and electroencephalography were …

Phenotypic analysis of Phytophthora parasitica by using high throughput phenotypic microarray.

OBJECTIVE: We studied the phenotypic characterization of Phytophthora parasitica Dastur var. nicotianae. METHODS: Phenotypic characterization of the pathogen was studied to provide information for disease management program by using BIOLOG phenotype MicroArray (PM ). Using PM plates 1 to 10, 950 different phenotypic characterizations were tested. RESULTS: P. parasitica was able to metabolize 74% of tested carbon sources, 96% of nitrogen sources, 100% of sulfur sources, and 98% of phosphorus sources. Most informative utilization patterns for carbon sources of P. parasitica were organic acids …

Генетическая трансформация C. trachomatis Ocular Isolate с функциональным триптофаном Синтасе Operon Conferers a Indole-Safety Phenotype.

Хламидиотрахоматис является главной причиной предотвратимой слепоты и наиболее часто встречающейся бактериальной инфекции, передающей половым путем. Различные штаммы связаны с окулярными или врожденными инфекциями, и предложенным механизмом, который может объяснить этот тканевой тропизм, является активный биосинтезный путь триптофана, кодируемый геномным опероном ТрпРБА в врожденных штаммах. Здесь мы описываем генетические исследования по дополнению, которые необходимы для подтверждения роли триптофановой синтазы в контексте окулярного C. trachomatis геномного фона. Окулярный штамм A2497 был п

Совпадение в аннотации оригинала
Chlamydia trachomatis is the leading cause of preventable blindness and the most common bacterial sexually transmitted infection. Different … by the intact and functional urogenital trpRBA operon was sufficient to bestow an indole rescuable phenotype upon A2497. This study proves that pSW2::GFP derived vectors do not conform to the cross-strain transformation barrier reported for other chlamydia shuttle vectors, suggesting these as a universal vector for transformation of all C. trachomatis stra …

Association of Traditional and Novel Lipid Indicators With the Hemorrhagic Phenotype in Adult Moyamoya Disease: Implications for Phenotype Stratification.

To investigate the associations of traditional and novel lipid parameters with the hemorrhagic phenotype in adults with primary moyamoya disease (MMD) and to evaluate their value for phenotype discrimination and stratification. This retrospective dual-center cross-sectional study included 1,176 adults with primary MMD treated at Beijing Hospital and Beijing Tiantan Hospital between January 2022 and January 2026, including 857 patients with a non-hemorrhagic phenotype and 319 with a hemorrhagic phenotype. Traditional and derived lipid parameters were analyzed. Missing body mass index values wer…

A Cockayne-like phenotype resulting from a de novo variant in MORC2: expanding the phenotype of MORC2-related disorders.

Cockayne syndrome is a rare inherited DNA repair multisystemic disorder. Here, we aim to raise awareness of the phenotypic resemblances between Cockayne syndrome and the neurodevelopmental disorder caused by pathogenic variants in MORC2, a gene also involved in DNA repair. Using exome sequencing, we identified a de novo pathogenic variant in MORC2 in our patient. Our patient's phenotype was characterized by multiple features evocative of Cockayne syndrome. Based on our patient's phenotype, in addition to the phenotypic description of patients with pathogenic variants in MORC2 reported in the l…

The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations.

PURPOSE: Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) is an autosomal-dominant disorder characterized by optic atrophy and intellectual disability caused by loss-of-function mutations in NR2F1. We report 20 new individuals with BBSOAS, exploring the spectrum of clinical phenotypes and assessing potential genotype-phenotype correlations. METHODS: Clinical features of individuals with pathogenic NR2F1 variants were evaluated by review of medical records. The functional relevance of coding nonsynonymous NR2F1 variants was assessed with a luciferase assay measuring the impact on transcri…

Similarity of Phenotype in Three Male Patients With the c.320A>G Variant in ALG13: Possible Genotype-Phenotype Correlation.

BACKGROUND: Congenital disorders of glycosylation (CDG) are a group of neurometabolic diseases that result from genetic defects in the glycosylation of proteins and/or lipids. Multiple pathogenic genes contribute to the varying reported phenotypes of individuals with CDG-1 syndromes, most of which are inherited as autosomal recessive traits, although X-linked inheritance has also been reported. Pathogenic variants in the asparagine-linked glycosylation 13 homolog (ALG13) gene have been implicated in the aetiology of developmental and epileptic encephalopathy (DEE) 36 (OMIM:*300776, DEE36). The…

Further delineation of phenotype and genotype of Kenny-Caffey syndrome type 2 (phenotype and genotype of KCS type 2).

BACKGROUND: Kenny-Caffey syndrome type 2 (KCS2) is an extremely rare inherited disorder characterized by proportionate short stature, skeletal defects, ocular and dental abnormalities, and transient hypocalcemia. It is caused by variants in FAM111A gene. Diagnosis of KCS2 can be challenging because of its similarities to other syndromes, the absence of clear hallmarks and the deficient number of genetically confirmed cases. Here, we aimed to further delineate and summarize the genotype and phenotype of KCS2, in order to get a better understanding of this rare disorder, and promote early diagno…

Adsorption and elution study detected misidentification of para-Bombay phenotype donor in an incompatible crossmatch with Bombay phenotype patient.

Bombay and para-Bombay are rare phenotypes with H antigen-deficient red blood cells. A 54-year-old male patient suffering from suspected malignant pleural effusion was planned for thoracotomy. The patient's blood group showed blood group discrepancy during pretransfusion testing due to ABO isoagglutinin. Further workup with anti-H lectin was negative with pan-reactive antibody screening and negative autocontrol, which suggested that the patient is Bombay RhD positive. A known Bombay phenotype donor was called for donation. That Bombay donor is a para-Bombay donor incorrectly labeled as Bombay …