"Chromosomal disorders"

BACKGROUND: Until now, there are no established norms for prostate size in children. Prostate volume during development has been analyzed in small study groups. In diagnostic imaging, transabdominal ultrasound and magnetic resonance imaging are used. AIMS: To establish prostate volume norms for individuals aged 1-17 years using transabdominal ultrasound. STUDY DESIGN: Between 2021 and 2023, transabdominal prostate ultrasound was performed on 482 Caucasian boys, aged 1-17 years, who were patients of the urology clinic...

Accurate segregation of homologous chromosomes during meiosis depends on both the presence and regulated placement of crossovers (COs). The centromere effect, or CO exclusion in pericentromeric regions of the chromosome, is a meiotic CO patterning phenomenon that helps prevent nondisjunction (NDJ), thereby protecting against chromosomal disorders and other meiotic defects. Despite being identified nearly a century ago, the mechanisms behind this fundamental cellular process remain unknown, with most studies of the Drosophila centromere effect focusing on local influences of the centromere and pericentric heterochromatin...

OBJECTIVE: To compare the association of unbound bilirubin (UB), total serum bilirubin (TSB), and bilirubin:albumin molar ratio (BAMR) with acute bilirubin encephalopathy (ABE), as assessed by bilirubin-induced neurologic dysfunction (BIND) score, in infants with significant hyperbilirubinemia (TSB ≥20 mg/dL or underwent exchange transfusion). STUDY DESIGN: In this prospective cohort study, infants ≥34 weeks of gestational age with significant hyperbilirubinemia during the first 2 postnatal weeks were eligible, unless they had craniofacial malformations, chromosomal disorders, TORCH (toxoplasmosis, other infections, rubella, cytomegalovirus and herpes simplex) infections, surgery, or a family history of congenital deafness...

Aneuploid human eggs (oocytes) are a major cause of infertility, miscarriage, and chromosomal disorders. Such aneuploidies increase greatly as women age, with defective linkages between sister chromatids (cohesion) in meiosis as a common cause. We found that loss of a specific pool of the cohesin protector protein, shugoshin 2 (SGO2), may contribute to this phenomenon. Our data indicate that SGO2 preserves sister chromatid cohesion in meiosis by protecting a "cohesin bridge" between sister chromatids. In human oocytes, SGO2 localizes to both sub-centromere cups and the pericentromeric bridge, which spans the sister chromatid junction...

BACKGROUND AND AIM: Chromosomal analysis is a laboratory technique used to examine the chromosomes of an individual, offering insights into chromosome numbers, structures, and arrangements to diagnose and comprehend genetic diseases. This retrospective study provides a comprehensive understanding of the distribution by indications in a large cohort of 14,242 patients and the frequency of chromosomal abnormalities in different clinical populations. METHOD: The study examined various indications for karyotype evaluation, with recurrent pregnancy loss being the most common indication, followed by intellectual disability, dysmorphic features, congenital anomalies, and developmental delay...

BACKGROUND: In China, ~1,072,100 small for gestational age (SGA) births occur annually. These SGA newborns are a high-risk population of developmental delay. Our study aimed to evaluate the genetic profile of SGA newborns in the newborn intensive care unit (NICU) and establish a prognosis prediction model by combining clinical and genetic factors. METHODS: A cohort of 723 SGA and 1317 appropriate for gestational age (AGA) newborns were recruited between June 2018 and June 2020...

Background: Down syndrome (DS) is a known chromosomal disorder that results in changes in physical and clinical characteristics. Subjects with DS are more likely to be obese or overweight and have some recognized nutrition related problems. The objectives of this study are to compare body composition, food consumption pattern and physical activity level of children with and without DS. Methods: A case-control study of 82 participants (32 cases and 50 controls) was done. Anthropometric data related to weight, height, waist circumference, fat mass and fat free mass were obtained from the subjects...

Down syndrome (DS), or Trisomy 21, is the most common chromosomal disorder in humans. Men with DS are infertile. The DYRK1A gene on Hsa21 is involved in several features of DS. Overexpression of the homolog dyrk1A disrupts primordial germ cell migration in zebrafish, and overexpression of Dyrk1A impairs gonadotropic axis function and the early stages of spermatogenesis in the mouse. Other genes on Hsa21 might be involved in the pathogenesis of infertility in DS. We investigated the Dp(16)1Yey mouse model of DS, which features segmental duplication of chromosome Mmu16 (orthologous to a large part of Hsa21 and carrying Dyrk1A and 112 other genes)...

BACKGROUND: Studies have reported prenatal acetaminophen exposure is associated with abnormal neurodevelopment. There is limited and conflicting data on neurodevelopmental outcomes following postnatal acetaminophen exposure. Our objective was to investigate the neurodevelopmental outcomes of preterm infants < 29 weeks gestation postnatally exposed to acetaminophen. METHODS: Retrospective cohort study of infants born between 2008 and 2017 at a tertiary care perinatal center...

Non-invasive prenatal testing (NIPT) is a pioneering technique that has consistently advanced the field of prenatal testing to detect genetic abnormalities and conditions with the aim of decreasing the incidence and prevalence of inherited conditions. NIPT remains a method of choice for common autosomal aneuploidies, mostly trisomy 21, and several monogenic disorders. The advancements in gene sequencing techniques have expanded the panel of conditions where NIPT could be offered. However, basic research on the impact of several genetic conditions lags behind the methods of detection of these sequence aberrations, and the impact of the expansion of NIPT should be carefully considered based on its utility...

Post, EM, and Kraemer, WJ. Physiological mechanisms that impact exercise adaptations for individuals with Down syndrome. J Strength Cond Res 37(12): e646-e655, 2023-Down syndrome (DS) is the most common chromosomal disorder diagnosed in the United States since 2014. There is a wide range of intellectual severities, with the average IQ of individuals with DS at approximately 50 and adults without intellectual delay at approximately 70-130. Individuals with DS vary from mild to severe cognitive impairment, depending on the phenotypic penetration on the 21st chromosome, with the average cognitive capacity equivalent to a cognitive functioning of an 8- to 9-year-old child...

Down syndrome (DS) is one of the most common chromosomal disorders. In addition to this variety of dysmorphic features. DS is also associated with a wide range of diseases and related comorbidities affecting different organs and systems. These comorbidities, together with societal and environmental influences, have a negative impact on physical activity in people with DS. Low levels of physical activity and energy expenditure have been identified as crucial players in worsening the acquisition of motor skills and executive functions...

BACKGROUND: The primary objective of this study was to identify specific factors in pediatric cardiac surgical patients when tracheal extubation was performed on the operating table after completion of open-heart surgery (Group-1), postoperatively in the intensive care unit within 6 h (Group-II) or after 6 h (Group-III). The causes of failed extubation, the presence of chromosomal disorders in addition to arterial blood gas analysis parameters at the time of tracheal extubation, and the duration of intensive care unit stay were also evaluated in each group...

Adult tarsal coalition consists in abnormal union of two or more tarsal bones. Reported incidence ranges between 1 and 13%. It is generally a congenital condition, due to dominant autosomal chromosome disorder, but with some acquired forms following trauma or inflammatory pathology. Poorly specific clinical signs and the difficulty of screening on conventional X-ray may lead to diagnostic failure. The present review of tarsal coalition addresses the following questions: how to define tarsal coalition? How to diagnose it? How to treat it? And what results can be expected? There are 3 types of tarsal coalition, according to the type of tissue between the united bones: bony in pure synostosis, cartilaginous in synchondrosis, and fibrous in syndesmosis...

Short tandem repeats (STRs) are repeating DNA sequences used in forensic human identity testing and the diagnosis of aneuploidies. Many STRs like Penta D and TPOX are used routinely for paternity tests, but these tests are not widely used in sub-Saharan Africa. In this study we recruited individuals from Gabonese families seeking a paternity test. After DNA extraction from buccal swabs, we genotyped samples using a panel of 22 STRs. A total of 115 unrelated subjects from 39 families were included. Allele frequencies of the 22 STR loci were determined in unrelated Gabonese subjects...

Introduction: Trisomy 4p is a lethal chromosomal disorder, resulting from segmental or full trisomy of the short arm of chromosome 4. Prenatal diagnosis may allow decisions on whether to continue or terminate the pregnancy. Case report: We diagnosed a fetus with partial trisomy 4p after first-trimester ultrasound detection of increased nuchal translucency, allowing the parents the opportunity to terminate the pregnancy. The partial trisomy 4p was inherited from a balanced translocation carried by the father...

INTRODUCTION: Trisomy 22 is a chromosomal disorder rarely encountered prenatally. Even fewer live births are observed and generally correspond to confined placental mosaic trisomy 22, or even more uncommonly, to true fetal mosaic trisomy 22. CASE PRESENTATION: We examine and described a series of seven cases of trisomy 22 encountered prenatally in terms of their cytogenetic and phenotypic presentations, and discuss their interrelationships along with case management and outcomes...

Accurate segregation of homologous chromosomes during meiosis depends on both the presence and regulated placement of crossovers (COs). The centromere effect (CE), or CO exclusion in pericentromeric regions of the chromosome, is a meiotic CO patterning phenomenon that helps prevent nondisjunction (NDJ), thereby protecting against chromosomal disorders and other meiotic defects. Despite being identified nearly a century ago, the mechanisms behind this fundamental cellular process remain unknown, with most studies of the Drosophila CE focusing on local influences of the centromere and pericentric heterochromatin...

BACKGROUND: Quantitative fluorescent polymerase chain reaction (QF-PCR) is a rapid prenatal diagnostic method for abnormalities on chromosomes 21, 18, and 13 and sex chromosomal aneuploidy. However, the value of QF-PCR in diagnosing chromosomal structural abnormalities is limited. In this article, we report a confusing QF-PCR finding in a pregnant woman who underwent amniocentesis. CASE SUMMARY: The short tandem repeat marker AMXY (Xp22.2/Yp11.2) located on the sex chromosome exhibited a trisomic biallelic pattern, indicating that the karyotype of the fetus might be 47,XYY...

OBJECTIVE: To describe the maternal outcomes of a prospective cohort of non-immune hydrops fetalis (NIHF) pregnancies with negative standard-of-care evaluations. METHODS: This study was a secondary analysis of a prospective cohort study of NIHF pregnancies with negative work-ups (infection, alloimmune anemia, fetomaternal hemorrhage, and chromosomal disorders). Outcomes were obstetric complications, including pre-eclampsia, mirror syndrome, preterm birth, polyhydramnios, postpartum hemorrhage, and maternal mental health...