Note Polyploidisation, with modes in the triploid region or above, is common, particularly in the preinvasive phase where it may be linked to the frequent spindle anomalies that result, for instance, in the "three group" metaphases seen in histological sections and chromosome preparations; structural changes are commonest in chromosomes 1, 3, 5, 11 and 17 where, except in chromosome 5, they mos...

INTRODUCTION The KBG syndrome is a rare autosomal dominant condition, first described by Hermann et al. in 1975. Fundamental findings are: mild development delay, short stature, craniofacial dysmorphism and skeletal anomalies. CASE PRESENTATION A 32 years old woman, Caucasian race, weight 57 Kg, affected by KBG syndrome was sent to our clinics for preoperative anaesthesia evaluation. She was ...

Fig. 2 Conflict interest statement The authors declare that they have no conflict of interest to the publication of this article. There are many types of congenital anomalies and deformities of the ribs, including developmental fusion of two or more ribs, articulation or bridge formation between two ribs, and bifid rib. These morphological anomalies and anatomical variants occur in 0.15%–0.31% ...

Aim: To investigate the prevalence of eight morphological and numerical anomalies in the primary dentition of southern Chinese and to compare the prevalences with those from different ethnic groups. Materials and Methods: The material used in the study consisted of plaster casts and standardized panalipse radiographs collected from 936 randomly selected 5-year-old children (493 males and 443 fe...

OBJECTIVE To assess the role of magnetic resonance imaging (MRI) in the prenatal diagnosis of neural tube defects (NTDs). BACKGROUND NTDs comprise a heterogeneous group of congenital anomalies that derive from the failure of the neural tube to close. Advances in ultrasonography and MRI have considerably improved the diagnosis and treatment of NTDs both before and after birth. Ultrasonography ...

We report and analyze a case of pregnancy associated with pre-existent diabetes mellitus and fetal congenital anomalies involving neural tube defect (NTD) and congenital heart defect (CHD). We discuss the early antenatal management of such high-risk pregnancies. The clinical course, maternal paraclinic profile and morpho-sonographic investigation of the fetus are described. A 28-year-old pregna...

the implication of DNAH1 in Chinese MMAF patients. We, thus, would like to encourage the authors to sequence the remaining 75 exons of DNAH1. Using next generation sequencing, we have identified five new pathogenic mutations in DNAH1 in a small cohort of patients with MMAF phenotype, confirming the high prevalence of DNAH1 gene alterations in this phenotype and the fact that mutations can be ex...

The method of analyzing data known as Discrete Mathematical Analysis (DMA) incorporates fuzzy mathematics and logic. This paper focuses on applying DMA to study the morphology time series by utilizing language mathematics. morphological characteristics series, such background, slopes, vertices, are considered sets within domain its definition. allows for use logic in examining ultimately leadin...

The article presents an analysis of the prevalence malocclusion pathology and nature morphological changes in dental apparatus children adolescents with hearing loss living Bukhara region. anomalies deformities schoolchildren impairment was 76.5 ± 0.03%, were diagnosed 78.9%, 30.3% students. exceeded corresponding indicator conditionally healthy age groups In connection above, expediency develo...

High-resolution gravity data from the Gravity Recovery and Interior Laboratory (GRAIL) mission provide the opportunity to analyze the detailed gravity and crustal structure of impact features in the morphological transition from complex craters to peak-ring basins on the Moon. We calculate average radial profiles of free-air anomalies and Bouguer anomalies for peak-ring basins, protobasins, and...