Ventricular Septal Defect (VSD) is a common congenital heart condition characterized by a hole in the septum between the heart's ventricles. This defect can lead to various complications and is often associated with chromosomal disorders. Different types of VSD exist, each requiring tailored treatme

6 views • 72 slides

Newborn female with VACTERL association, imperforate anus, and perianal skin tag identified at birth. Patient transferred for surgical intervention and further workup due to associated abnormalities. Imaging studies show multiple sacral vertebral anomalies. Differential diagnosis includes genetic sy

0 views • 16 slides

Errors in mitosis or meiosis can result in changes in phenotype, often due to alterations in chromosome structure such as deletion, duplication, inversion, and translocation. Nondisjunction can lead to abnormal chromosome number, resulting in disorders like aneuploidy. Polyploidy, with extra complet

0 views • 9 slides

This in-depth article delves into the various types of red blood cell abnormalities seen in anemia, such as anisocytosis, poikilocytosis, spherocytes, ovalocytes, acanthocytes, codocytes, drepanocytes, and stomatocytes. It explains the characteristics of each abnormality, their significance in diffe

0 views • 45 slides

Chromosomal aberrations involve significant changes in chromosome structure and number, impacting multiple genes. These mutations can be structural or numerical, resulting in alterations such as deletions, duplications, inversions, and translocations. Deletions, for example, involve missing chromoso

0 views • 28 slides

Genetic mutations can be harmless, harmful, or beneficial, leading to variations within a species. Examples of gene mutations and chromosomal aberrations, like Trisomy 21, illustrate genetic abnormalities. The increase in Down Syndrome cases with maternal age highlights a maternal age effect. Geneti

0 views • 17 slides

Sex determination in organisms involves the differentiation of male and female sexes based on gamete production, reproductive structures, and secondary sexual characteristics. This process can vary across different species, with mechanisms such as sex chromosomes, genic balance, haploidy, and single

0 views • 23 slides

Karyotypes are photographic inventories of an individual's chromosomes, helping determine genetic sex and detect abnormalities. Common chromosomal conditions like Down syndrome, Klinefelter's syndrome, and Turner's syndrome are discussed, along with the impact of abnormal sex chromosomes on characte

0 views • 10 slides

Explore the practical technique of determining the mitotic index, a key aspect of cell division, through a step-by-step process involving garlic root tip preparation and microscopic observation. Discover real-world applications and enhance your skills in risk assessment and tissue analysis. Uncover

0 views • 15 slides

Genetic screening and reproductive carrier testing play crucial roles in identifying and managing genetic disorders in couples planning for pregnancy. While carrier screening is recommended for all couples, it is not widely followed in New Zealand. Pre-conceptual reproductive carrier screening is no

0 views • 19 slides

Explore congenital hand abnormalities such as macrodactyly, trigger thumb, clasped thumb, preaxial deficiency, and syndromes like Holt-Oram Syndrome and Fanconi Anemia. Learn about assessment, intervention plans, and common treatments provided by experts in reconstructive plastic and hand surgery.

1 views • 26 slides

Portal vein imaging is crucial for evaluating conditions affecting the abdominal part of the gastrointestinal tract. Techniques such as spleno-portography and CT triphasic contrast imaging are used to visualize the portal vein and diagnose anomalies like portal-systemic collaterals and porto-systemi

4 views • 7 slides

Sally Kennedy, a UK physiotherapist, explores gait abnormalities common in older individuals and those with neurological conditions. The content delves into the stages of the normal gait cycle, from initial contact to mid-swing, highlighting the importance of identifying and managing common gait pro

0 views • 21 slides

Understanding pathological gait variations related to hip joint differences is crucial in gait analysis. Excessive sagittal, coronal, and transverse plane motions impact stance and swing phases, leading to deviations in gait patterns. Excess flexion, limited flexion, past retraction, excess adductio

0 views • 13 slides

Explore the world of chromosomal karyotypes with this detailed guide covering definitions, structures, identification methods, staining techniques, and the importance of karyotyping in genetic analysis. Learn about chromosome labeling, obtaining samples for karyotyping, and the process of arranging

0 views • 12 slides

Numerical chromosome aberrations involve the gain or loss of whole chromosomes, impacting the genome size and potentially leading to genetic mutations. Nondisjunction, where chromosomes fail to separate properly during cell division, can result in aneuploidy - the presence of an extra or missing chr

0 views • 18 slides

Chromosomal aberrations and mutations are key events that can alter the genetic structure of organisms. They can lead to numerical abnormalities like aneuploidy and structural abnormalities such as ring chromosomes and chromosome fragments. Understanding these variations in chromosomes is crucial in

0 views • 10 slides

Human cells have 22 pairs of autosomes and one pair of sex chromosomes, totaling 46. Karyotypes help diagnose chromosomal abnormalities by aligning chromosomes in size order. Nondisjunction during meiosis can lead to abnormal chromosome numbers in gametes. Disorders like Down Syndrome, XYY Syndrome,

0 views • 30 slides

This lecture covers essential topics in human genetics, focusing on mitosis, meiosis, and chromosomal abnormalities. Students will learn about the events in mitosis and meiosis, non-disjunction, and classification of chromosomal anomalies, including numerical and structural abnormalities. Detailed e

1 views • 22 slides

Meiosis is a crucial process in sexually reproducing organisms where cells divide to produce sex cells with half the normal number of chromosomes. This ensures genetic variation in offspring. Meiosis takes place in specific cells of an organism with paired chromosomes (diploid cells), leading to the

0 views • 18 slides

Human chromosomes play a crucial role in determining genetic traits and health conditions. An extra copy of chromosome 21 leads to Down syndrome, while conditions like Klinefelter's syndrome, Turner's syndrome, Trisomy 13, 18, and 23 have distinct symptoms and implications. Trisomies result from abn

0 views • 20 slides

Down syndrome is a genetic condition caused by an extra chromosome, typically chromosome 21. This leads to physical and cognitive challenges, with individuals exhibiting unique abilities. The syndrome presents with distinctive physical features, such as flattened face, almond-shaped eyes, and poor m

2 views • 14 slides

Initial clinical evaluation of a child with possible cardiac abnormalities includes history taking and physical examination. History should cover symptoms related to pulmonary and systemic venous congestion, cyanosis, cyanotic spells, palpitations, chest pain, and more. The general physical examinat

0 views • 65 slides

Abelmoschus esculentus, commonly known as okra, has a rich history and diverse characteristics. Originating from tropical Africa, it is widely cultivated in regions like India, Sri Lanka, and Bangladesh. This crop, with its varied chromosomal numbers in different species, holds significance in tropi

0 views • 39 slides

Mosaicism is the presence of genetically different cell lines within one individual, often involving sex chromosomes due to mitotic defects in early development. Chromosomal mosaicism can be distinguished from chimerism, and its association with gametogenesis and aneuploidy is influenced by maternal

0 views • 17 slides

This content delves into the assessment and diagnosis of Autism Spectrum Disorder (ASD) with a focus on early markers, DSM-5 criteria, language/communication abnormalities, social interaction abnormalities, and repetitive behaviors/unusual interests. It provides a comprehensive overview of the key a

0 views • 20 slides

Learn how to utilize BioMart to extract SNP information in a detailed step-by-step manner. The guide includes selecting specific data such as chromosomal regions, choosing output data like marker names, and selecting varieties/strains where the SNPs are found in wheat. Detailed visuals and instructi

0 views • 16 slides

Second trimester miscarriage, occurring after 12 weeks of gestation, can be caused by factors such as cervical injury, infections, thrombophilias, uterine abnormalities, and chromosomal issues. Management options include medical, surgical, and expectant approaches, with factors like gestational age

1 views • 16 slides

Techniques such as chromosomal karyotyping, DNA barcoding, and STR genotyping are used for authenticating and identifying non-human cell lines to ensure accurate research outcomes. Species-level identification, karyotyping, and commercial services for mouse and rat cell lines are discussed, highligh

0 views • 16 slides

Psoriasis is a chronic, multifactorial skin condition characterized by papulosquamous eruptions caused by abnormalities in arachidonic acid metabolism and skin cell immunity. It is believed to have a genetic component and results in various types of lesions like chronic plaque, guttate, flexural, an

0 views • 10 slides

Delve into the intricate world of molecular biology as we explore the central dogma, from DNA structure and replication to gene regulation and chromosomal organization in eukaryotic cells. Discover the fundamental principles governing genetic information flow and genome evolution, offering insights

0 views • 32 slides

A case report presented at the 9th Annual State Ophthalmological Conference TOSCON 2024 discusses a young male patient grappling with unexplained vision loss and hormonal abnormalities. The patient exhibited symptoms of headache, diminished vision in the left eye, and an unusual head-turning behavio

0 views • 6 slides

Professor Muhsin A. L-Sabba, a renowned gynecologist, delves into the normal development of the female genital tract, sex determination process, and related concepts. Learn about the differentiation of tissues into male or female organs, the role of hormones in puberty and secondary sex characterist

0 views • 15 slides

Exploring the utility of non-recombining paternal ancestry information in Genome-Wide Association Studies (GWAS) through the analysis of Y chromosomal haplogroups. This review delves into the implications of using Y chromosome and mitochondrial DNA data in tracing human migrations, ancestry, bottlen

0 views • 27 slides

This study examines the association between ECG abnormalities and incident CVD events in patients with type 1 diabetes, focusing on the prognostic significance in a population where CVD develops earlier. Major and minor ECG abnormalities were classified, with cardiovascular events such as myocardial

0 views • 16 slides

Explore topics ranging from cell division phases, mitosis stages, genetic variation in sexual reproduction, chromosome structures, karyotypes, Mendel's laws, Punnett squares, and more in this comprehensive study guide. Understand key concepts such as DNA replication, chromosomal abnormalities, gamet

0 views • 46 slides

Learn the essential techniques for assessing the integumentary system, including skin, hair, and nails, through inspection and palpation. Understand how to evaluate nail health based on color, shape abnormalities like spoon shape or clubbing, and texture variations. Explore skin assessment criteria,

0 views • 21 slides

A 45-year-old male with gait abnormalities was referred for evaluation, with an unknown inheritance and deceased parents. His father had a history of ataxia and tremor. Using the GAIN scoring metric, the genomic content was assessed, including the presence of protein-coding genes, established TS gen

0 views • 24 slides

Chromosomal and gene mutations play a crucial role in genetic variations. Mutations such as insertion, deletion, and substitution can lead to significant changes in DNA sequences, affecting gene expression and cellular functions. Additionally, chromosomal mutations like deletion, amplification, inve

0 views • 15 slides

Overweight and obesity are known cardio-metabolic risk factors, but this study delves into abnormalities among normal-weight individuals. The research compares data from MESA and MASALA studies, including diverse race/ethnicity groups like White, African American, Hispanic American, Chinese American

1 views • 23 slides