A20 haploinsufficiency in a neonate caused by a large deletion on chromosome 6q.

Haploinsufficiency of A20 (HA20) is a rare monogenic disease caused by heterozygous loss-of-function mutations in the tumor necrosis factor alpha-induced protein 3 (TNFAIP3) gene located on chromosome 6q23.3. The majority of disease-causing mutations in most cases of HA20 comprise single nucleotide variations, small insertions, or deletions in TNFAIP3, which result in a premature termination codon and subsequent disruption of its anti-inflammatory role. Large deletions have been reported sporadically. HA20 patients may present with a variety of autoinflammatory and autoimmune features during early childhood; however, cases with neonatal onset are rare. Here, we describe a Chinese neonate presenting with concomitant inflammatory and other syndromic manifestations caused by a 5.15 Mb interstitial deletion in chromosome 6; these deletions affect TNFAIP3. Taken together, the data extend the clinical and genetic spectra of HA20.

Unusual Trisomy X Phenotype Associated with a Concurrent Heterozygous 16p11.2 Deletion: Importance of an Integral Approach for Proper Diagnosis.

Trisomy X is the most frequent sex chromosome anomaly in women, but it is often underdiagnosed postnatally because most patients do not show any clinical manifestation. It is estimated that only 10% of patients with trisomy X are diagnosed by clinical findings. Thus, it has been proposed that the clinical spectrum is not yet fully delimited, and additional uncommon or atypical clinical manifestations could be related to this entity. The present report describes a female carrying trisomy X but presenting atypical manifestations, including severe intellectual disability, short stature, thymus hypoplasia, and congenital hypothyroidism (CH). These clinical findings were initially attributed to trisomy X. However, chromosome microarray analysis (CMA) subsequently revealed that the patient also bears a heterozygous 304-kb deletion at 16p11.2. This pathogenic copy-number variant (CNV) encompasses 13 genes, including TUFM. Some authors recommend that when a phenotype differs from that described for an identified microdeletion, the presence of pathogenic variants in the non-deleted allele should be considered to assess for an autosomal recessive disorder; thus, we used a panel of 697 genes to rule out a pathogenic variant in the non-deleted TUFM allele. We discuss the possible phenotypic modifications that might be related to an additional CNV in individuals with sex chromosome aneuploidy (SCA), as seen in our patient. The presence of karyotype-demonstrated trisomy X and CMA-identified 16p11.2 deletion highlights the importance of always correlating a patient's clinical phenotype with the results of genetic studies. When the phenotype includes unusual manifestations and/or exhibits discrepancies with that described in the literature, as exemplified by our patient, a more extensive analysis should be undertaken to enable a correct diagnosis that will support proper management, genetic counseling, and medical follow-up.

From Genes to Ambiguity: A Case Study Exploring the Enigmatic Connection Between Chromosome 13q Deletion Syndrome and Ambiguous Genitalia.

During development, the deletion of DNA from chromosome 13's short arm (q) causes a chromosomal abnormality known as chromosome 13q deletion syndrome. Chromosome 13 terminal deletions are rare and may cause various congenital disabilities, and only a few cases have been reported in the literature. The extent of chromosome 13q deletion syndrome changes lacks consistent clinical features, with no recorded cases of genital ambiguity until now. We report the case of a newborn male patient whose testes had descended on both sides; he had ambiguous genitalia, and the dorsal surface of his penis was attached to his scrotal sac. An abnormal karyotype (46, XY, deletion (13) q33) was discovered by using a G-banding analysis of chromosomes in a blood sample taken from the periphery, which revealed a deletion of chromosome 13 at the end of the first 10 cells. We can better characterize chromosome 13q deletions by establishing stronger correlations between karyotype and the distinctive phenotypes of haploinsufficient genes found on the chromosome.

A case of syndromic congenital hypothyroidism with a 15.2 Mb interstitial deletion on 2q12.3q14.2 involving PAX8.

Paired box 8 (PAX8) mutations are an established genetic cause of congenital hypothyroidism (CH). The majority of these mutations are found in the protein-coding exons of the gene. The proband, a 3-yr-old girl, had tetralogy of Fallot and polydactyly soon after birth. She was diagnosed with CH in the newborn screening for CH. She had a high serum TSH level (239 mU/L) and low free T4 level (0.7 ng/dL). Ultrasonography revealed thyroid hypoplasia. We performed array comparative genomic hybridization because the patient exhibited a variety of symptoms across multiple organ systems. The analysis revealed a novel heterozygous deletion that spanned a 15.2 Mb region in 2q12.3q14.3 (GRCh37; chr2:109,568,260-124,779,449). There were 71 protein-coding genes in this region, including two genes (PAX8 and GLI2) associated with congenital endocrine disorders. The common clinical features of the two previously reported patients with a total PAX8 deletion and our case were CH, short stature and intellectual disability, but the severity of hypothyroidism and other clinical features were variable. In conclusion, we describe a syndromic CH patient with a novel 2q12.3q14.3 deletion involving PAX8. Patients with CH, whose unifying diagnosis is not obvious, could have a genomic deletion involving PAX8.

Síndrome de microdeleção 2q32 em paciente da Amazônia ocidental / 2q32 microdeletion syndrome in a patient from the western Amazon

Introdução: As deleções intersticiais envolvendo a região 2q31q32 são reconhecidas como um transtorno clínico, envolvendo diversas manifestações como deficiência intelectual, retardo no crescimento, distúrbios comportamentais e dismorfologias faciais. Os números reduzidos de relatos de pacientes acometidos por essa síndrome contribui para que as correlações genótipos-fenótipos sejam difíceis de se fazer. Relato de caso: Paciente com inversão do braço longo do cromossomo 2 [46, XX,inv(2)(q21q33)]. Apresentou ao exame físico dismorfológico fronte proeminente, epicanto, ponte nasal baixa, filtro nasolabial longo e lábio superior fino. Ao exame neurológico, apresentava hipotonia. Discussão: Uma correta interpretação cromossômica pode não só identificar a síndrome de microdeleção como também, descartar ou confirmar possíveis diagnósticos diferenciais, deixando evidente a necessidade e a importância de se reconhecer e documentar os casos (AU).

Introduction: Interstitial deletions involving the 2q31q32 region are recognized as a clinical disorder involving several manifestations, such as intellectual disability, growth retardation, behavioral disorders, and facial dysmorphologies. The reduced number of reports of patients affected by this syndrome contributes to the difficulty of making genotype-phenotype correlations. Case report: Patient with inversion of the long arm of chromosome 2 [46, XX,inv(2)(q21q33)]. On physical examination, he had a prominent forehead, epicanthus, low nasal bridge, long nasolabial philtrum and thin upper lip. Neurological examination showed hypotonia. Discussion: A correct chromosomal interpretation can identify the microdeletion syndrome and rule out or confirm possible differential diagnoses, highlighting the need and importance of recognizing and documenting cases (AU).

Prenatal phenotypic analysis and genetic counseling for 22q11.21 microdeletion and microduplication syndrome / 中华围产医学杂志

Objective:To analyze the prenatal clinical phenotypes and pregnancy outcomes of fetuses with 22q11.21 microdeletion and microduplication syndrome to provide a basis for clinical genetic counseling.Methods:This retrospective study involved the cases diagnosed with 22q11.21 microdeletion or microduplication by chromosomal microarray analysis (CMA) due to abnormal ultrasound findings, advanced maternal age, or high-risk pregnancies indicated by serum screening in the Prenatal Diagnosis Center of the First Affiliated Hospital of Air Force Medical University from January 2015 to January 2022. Clinical phenotypes and pregnancy outcomes of the fetuses were analyzed and described.Results:Among 9 141 cases referred for CMA during the study period, 77 cases (0.8%) were diagnosed as 22q11.21 microdeletion or microduplication, including 62 (80.5%) with 22q11.21 microdeletion and 15 (19.5%) with microduplication. In the 22q11.21 microdeletion cases, 58 had typical deletion, and four had atypical deletions, but all fetuses carried TBX1 gene that was clearly associated with congenital heart disease. The 15 fetuses with 22q11.21 microduplication including 14 in the typical region and one in the atypical region. Forty-eight (77.4%) out of the 62 fetuses with 22q11.21 microdeletion were complicated by congenital heart defects, including 28 with conotruncal defects. Five of the 15 fetuses with 22q11.21 microduplication were complicated by congenital heart defects. The cases were followed up on telephone at three to six months after the expected date of delivery. Among the 62 cases with 22q11.21 microdeletion, 52 terminated pregnancies, five were lost to follow-up, and five were delivered (one died after one month of premature delivery, one was born with anal advancement and growth retardation, and three were followed up without obvious abnormality). Among the 15 cases with 22q11.21 microduplication, four terminated pregnancies, two were lost to follow-up, and nine gave birth (eight were followed up without obvious abnormality, one grew slowly). Conclusions:The application of CMA in the prenatal diagnosis of 22q11.21 microdeletion and microduplication fetuses, and the comprehensive analysis of clinical manifestations and pregnancy outcome combined with ultrasonic diagnosis are of great significance in guiding the treatment and rehabilitation after birth of an affected child. Genetic counseling for cases with 22q11.21 microdeletion and microduplication syndrome should be cautious and consider ultrasound findings.

Prenatal diagnosis and genetic analysis of seven fetuses with 16p12.2 microdeletion or microduplication / 中华围产医学杂志

Objective:To investigate the prenatal ultrasonographic features and diagnosis of 16p12.2 copy number variation (CNV).Methods:This retrospective study recruited seven fetuses with 16p12.2 microdeletion/microduplication in the First Affiliated Hospital of Fujian Medical University from January 2017 to December 2021. Data, including the prenatal diagnostic indications, ultrasound findings, karyotypes, genetic testing and mutation tracing results, pregnancy outcomes, and postnatal follow-up data, were summarized with descriptive statistical analysis.Results:Prenatal ultrasound indicated three fetuses with structural abnormalities, including one case each of multiple malformations, interventricular septal defect, and cleft lip and palate. The other four cases were positive for ultrasonic soft markers involving the heart and kidney. The chromosome karyotypes of the seven fetuses were normal. Single nucleotide polymorphism array (SNP array) results showed that four cases had a 381.7-542.4 kb microdeletion containing three genes ( OTOA, METTL9, and IGSF6) in Online Mendelian Inheritance in Man (OMIM) at 16p12.2 (distal region) and three cases had a 484.0-701.7 kb microdeletion/microduplication containing four OMIM genes ( UQCRC2, CDR2, EEF2K, and POLR3E) at 16p12.2 (proximal region). Five (cases 1, 2, 4, 5, and 6) out of the seven fetuses inherited the variants from their phenotypically normal mother/father, and among them, three (cases 2, 4, and 5) were delivered at term and healthy. Two cases (cases 3 and 7) refused to undergo pedigree verification. Case 3, a full-term infant, underwent ventricular septal defect repair three months after birth, and no abnormality was found at 18 months of age. Conclusions:No specific phenotype presents in fetuses with 16p12.2 microdeletion/microduplication in prenatal diagnosis. OTOA gene is the key gene associated with abnormality in the distal region of 16p12.2. Pedigree analysis is conducive to preventing unnecessary termination of pregnancy.

Exome sequencing identifies a cryptic chromosome translocation in a family decades after clinical diagnosis of Cornelia de Lange: Case report.

Clinical genetic evaluations are defined by the knowledge and technology available at the time they occur. In the modern era, microarray and exome sequencing are first line tests for clinical geneticists; however, beginning in the late 1970s and continuing until the turn of the past century, a standard genetic evaluation consisted, in many cases, of an examination by a dysmorphologist as well as a conventional karyotype. In general, once a genetic diagnosis is established, it does not get revisited as more advanced methods become available. Clearly, there will be instances in which new technology can modify or change a prior diagnosis. We present a family in which the recent birth of a baby resulted in the establishment of a cytogenetic diagnosis of a different family member whose initial evaluation and clinical diagnosis had occurred three decades earlier. The new genomic findings have profound implications for other family members, and in addition provided the family with a sense of closure.

Terminal 6q27 Microdeletion Syndrome: A Case Report.

A 10-year-old female with a history of global developmental delay (reduced concentration, cognitive impairment, and difficulty in reading and writing), scoliosis, aggressiveness, toe walking, and brain malformations was observed in the pediatric development outpatient consultation of Hospital de Santo Espírito da Ilha Terceira (HSEIT), Azores, Portugal. A genetic study was carried out and showed a terminal 6q27 microdeletion, a rare disorder. Being so rare, it's important to share with the wider medical community any of such cases so early diagnosis can occur and interventions may be developed.

Generation of sex-reversed female clonal mice via CRISPR/Cas9-mediated Y chromosome deletion in male embryonic stem cells.

Mice derived entirely from embryonic stem (ES) cells can be generated through tetraploid complementation. Although XY male ES cell lines are commonly used in this system, occasionally, monosomic XO female mice are produced through spontaneous Y chromosome loss. Here, we describe an efficient method to obtain monosomic XO ES cells by CRISPR/Cas9-mediated deletion of the Y chromosome allowing generation of female clonal mice by tetraploid complementation. The monosomic XO female mice are viable and able to produce normal male and female offspring. Direct generation of clonal mice in both sexes can significantly accelerate the production of complex genetically modified mouse models.

Novel 12 Mb interstitial deletion of chromosome 8p11.22-p21.2: a case report.

BACKGROUND: The deletion of a short arm fragment on chromosome 8 is a rare cause of Kallmann syndrome and spherocytosis due to deletion of the FGFR1 and ANK1 genes. CASE PRESENTATION: This case study describes a 4-month-old child with growth and psychomotor retardation, auricle deformity, microcephaly, polydactyly, a heart abnormality, and feeding difficulties. An approximately 12.00 MB deletion was detected in the 8p11.22-p21.2 region of chromosome 8. After sequencing, we found that 65 protein genes had been deleted, including FGFR1, which resulted in Kallmann syndrome. There was no deletion of the ANK1 gene associated with spherocytosis, consistent with the phenotype. CONCLUSION: This patient is a new case of short arm deletion of chromosome 8, resulting in novel and previously unreported clinical features.

A Rare Case Report of 17q23.1q23.2 Microdeletion With Homozygosity of 11p11.2q13.4 in a Newborn.

We present the case of a newborn with 17q23.1q23.2 microdeletion and additional homozygosity of 11p11.2q13.4. In the literature, 17q23.1q23.2 microdeletion syndrome is a novel syndrome reported in nine patients. Our patient is a full-term baby boy admitted to a neonatal intensive care unit for hypoglycemia, respiratory distress, presumed sepsis, and thrombocytopenia. General appearance revealed microcephaly, micrognathia, ankyloglossia, small mouth, and high arch palate. The patient also presented with hypotonia, poor feeding, and poor weight gain in the first week of life followed by hypertonia and tremors from the second week of life. The phenotypic and clinical presentation lead to the genetic investigation of microarray which revealed 17q23.1q23.2 microdeletion and additional homozygosity of 11p11.2q13.4.

Terminal deletion of the short arm of chromosome 6 (6P25 3P 243): a literature review and case report of a Brazilian child / Deleção terminal do braço curto do cromossomo 6 (6p25 3p 243): uma revisão de literatura e relato de caso de uma criança brasileira

Introduction: Deletion syndromes are rare events in clinical practice. A chromosomal deletion occurs when seg-ments of genetic information are missing on a particular chromosome or more. The absence of some genes implies varied phenotypes, which detailed explanation is not fully elucidated yet. Objective: Report the case of a child with a terminal segment deletion of 8,9 Mb on the short arm of chromosome 6 (in 6p25.3p24.3) Methods: This case report was approved by the Ethics and Research Committee of the institution. For its preparation, the exam data provided by the patient's family were added from prenatal to early childhood and the discussion with professionals related to the case. Results: B.A.G., a two-year-old female child, the only daughter of non-consanguineous par-ents, no family history of similar diseases. She was born by premature cesarean section (GA: 35 weeks), presenting Dandy-Walker malformation, Fallot tetralogy, head circumference in the 97th percentile, and syndromic facies, with hypertelorism, low implantation of the ears, and opacity of both lenses. Conclusion: Deletions on chromosome 6 are a very rare genetic alteration. Until 2004, there were only 43 cases in the medical literature, excluding ring chromosome 6 anomalie31. Regarding the terminal deletions of the short arm, this case specifically - 6p24pter - was associated with developmental delay, brain malformations, abnormalities in the anterior chamber of the eye, hearing loss, and abnormalities in the ear, micrognathia, and heart diseases (AU)

Introdução: As síndromes de deleção são eventos raros na prática clínica. A deleção cromossômica ocorre quando segmentos de informação genética são perdidos em um ou mais cromossomos. A ausência de alguns genes implica em fenótipos variados, cuja explicação detalhada ainda não está totalmente elucidada. Objetivo: Relatar o caso de uma criança com deleção de segmento terminal de 8,9 Mb do braço curto do cromossomo 6 (em 6p25.3p24.3) Métodos: Esse relato de caso foi aprovado pelo Comitê de Ética e Pesquisa da Instituição. Para sua elaboração, foram adicionados os dados de exames fornecidos pela família do paciente desde o pré-natal até a primeira infância e a discussão com profissionais relacionados ao caso. Descrição do Caso: B.A.G., criança de dois anos, sexo femi-nino, filha única de pais não consanguíneos, sem antecedentes na família de doenças similares. Nasceu por cesárea prematura (IG 35 semanas), apresentando Síndrome de Dandy-Walker, tetralogia de Fallot, perímetro cefálico no percentil 97 e fácie sindrômica, com hipertelorismo, baixa implantação das orelhas e opacidades do cristalino bi-lateralmente. Conclusão: As deleções no cromossomo 6 são alterações genéticas de grande raridade. Até 2004, existiam apenas 43 casos na literatura médica, excluindo a anomalia do cromossomo 6 em anal 31. No que se refere às deleções terminais do braço curto, a do caso em questão - 6p24-pter - foram associadas o atraso no desenvol-vimento, malformações cerebrais, anormalidades na câmara anterior do olho, perda auditiva, anormalidades no ouvido, micrognatia e cardiopatias (AU)

Bioinformatics analysis of recurrent deletion regions in neuroblastoma.

Neuroblastoma (NB) is the most common extra-cranial solid tumor in childhood. Very few genes in recurrent deletion regions have been identified as tumor suppressors for NB, and interactions among proteins encoded by genes in these regions have been overlooked. This study aims to identify possible tumor suppressor genes located within regions commonly deleted in NB tumors and to show possible interaction network of proteins encoded by genes in these regions by bioinformatics analysis. The genes localized in the recurrent deletion regions were identified using the Ensembl BioMart web-tool. GSE1824 microarray dataset was analyzed to determine downregulated differently expressed genes (dDEGs) selected from deletion regions using Orange Canvas software. The DAVID v6.8 tool and Reactome database were used to perform gene ontology and pathway enrichment analysis, respectively. The protein-protein interaction (PPI) network and sub-module analysis were conducted by STRING database and Cytoscape plugin MCODE software, respectively. Copy number variation status and mutations of hub genes were examined in TARGET neuroblastoma dataset using UCSC Xena platform. Biological processes of genes were specific to chromosomes. The 219 genes selected from these regions were found to be downregulated. A PPI network was constructed for dDEGs. Copy number losses and mutations were observed for hub genes. Hub genes identified in the current study may act as tumor suppressors in NB tumorigenesis. Disruption of protein-protein interaction network consisting of proteins encoded by genes on various recurrent deletion regions may give rise to NB by interrupting gene regulatory network orchestrating neural crest formation.

Investigação Citogenômica de Crianças com Doença Cardíaca Congênita: Experiência de um Centro no Brasil / Cytogenomics Investigation of Infants with Congenital Heart Disease: Experience of a Brazilian Center

Resumo Fundamento Algumas síndromes têm características específicas e facilmente reconhecíveis, enquanto outras podem ser mais complexas de se identificar e podem apresentar diferentes manifestações fenotípicas, por exemplo. Um diagnóstico etiológico é importante para entender a natureza da doença, para estabelecer o prognóstico e para começar o tratamento, permitindo a inclusão de pacientes na sociedade e reduzindo o custo financeiro dessas doenças. Objetivo A proposta inicial deste estudo foi a triagem citogenética para detectar a síndrome de deleção 22q11.2 (SD22q11.2) em recém-nascidos e crianças com doença cardíaca congênita utilizando a técnica da amplificação multiplex de sondas dependente de ligação (MLPA). Assim, por meio da pesquisa, outras mudanças genômicas foram identificadas nesses pacientes cardíacos. Nosso objetivo se estendeu a investigar essas outras mudanças citogenéticas. Métodos Investigamos 118 recém-nascidos com doenças cardíacas congênitas nascidos consecutivamente durante um ano, utilizando a técnica da MLPA. Resultados A técnica da MLPA permitiu a detecção da SD22q11.2 em 10/118 pacientes (8,5%). Outras alterações genômicas foram identificadas em 6/118 pacientes (5%): 1p36 del, 8p23 del (2 casos), 7q dup, 12 dup e 8q24 dup. Conclusão Este estudo ressalta a relevância da detecção de alterações genômicas que estão presentes em recém-nascidos e crianças com doenças cardíacas congênitas por meio de ferramentas citogenômicas.

Abstract Background Some syndromes have specific and easily recognizable features, while others may be more complex to identify and may present different phenotypic manifestations, for example. An etiological diagnosis is important to understand the nature of the disease, to establish the prognosis and to start the treatment, allowing the inclusion of patients in society and reducing the financial cost of such diseases. Objective The initial proposal of this study was cytogenetic screening for the detection of the 22q11.2 deletion syndrome in consecutive newborns and infants with congenital heart disease using the multiplex ligation-dependent probe amplification (MLPA) technique. Therefore, throughout our research, other genomic alterations were identified in these cardiac patients. Thus, our objective was extended to investigate these other cytogenetic alterations. Methods We investigated 118 neonates with congenital heart diseases born consecutively during one year using the MLPA technique. Results The MLPA technique allowed the detection of 22q11.2DS in 10/118 patients (8.5%). Other genomic alterations were also identified in 6/118 patients (5%): 1p36 del, 8p23 del (2 cases), 7q dup, 12 dup and 8q24 dup. Conclusion This study highlights the relevance of detecting genomic alterations that are present in newborns and infants with congenital cardiac diseases using cytogenomic tools.

An Intradermal Spindle Cell Lipoma on the Plantar Hallux in a Patient With Scleroderma and Ehlers-Danlos Syndrome: A Case Report.

Spindle cell lipoma (SCL) is a rare variant of lipomas, which predominantly occurs in the regions of shoulder and posterior neck but rarely on the toes. Epidemiological studies have demonstrated increased incidence of cancers in patients with scleroderma. A 28-year-old female with scleroderma and Ehlers-Danlos syndrome developed a painful, skin colored, raised, polypoid lesion on the plantar side of the left hallux for several years. The lesion was surgically excised. Pathological evaluation showed intradermal bland spindle cells associated with delicate ropey/refractile collagen bundles with strong and diffuse cytoplasmic expression of CD34 but negative expression of Rb and S-100, which are consistent with SCL. We report a first case of SCL on the plantar hallux in a young female patient with scleroderma and Ehlers-Danlos disease with clinical presentations, histopathology, and treatment to raise awareness of clinicians to this rare variant of lipomas.

Mono-allelic loss of YTHDF3 and neurodevelopmental disorder: clinical features of four individuals with 8q12.3 deletions.

The YTH domain family member 3 gene (YTHDF3) encodes a reader of the abundant N6-methyladenosine (m6 A) modification of eukaryotic mRNA, which plays an essential role in regulating mRNA stability and is necessary to achieve normal development of the central nervous system in animal models. YTHDF3 has not previously been implicated in Mendelian disease despite a high probability of loss of function intolerance and statistical evidence of enrichment for gene-disruptive de novo variants in large-scale studies of individuals with intellectual disability and/or developmental delay. We report four individuals with deletion of 8q12.3, deletion size 1.38-2.60 Mb, encompassing YTHDF3, three of them were de novo, and in one case, the inheritance was unknown. Common features of the individuals (age range, 4-22 years) were developmental delay and/or intellectual disability. Two individuals underwent squint surgery. We suggest that haploinsufficiency of YTHDF3 causes a neurodevelopmental disorder with developmental delay and intellectual disability of variable degree.

Malaria prevalence in Commune 5 in Tumaco (Nariño, Colombia).

Background Urban malaria is a public health problem in Colombia and there is still lack of knowledge about its epidemiological characteristics, which are key to the implementation of control measures. The presence of urban malaria cases and disease diagnosis are some of the challenges faced by malaria elimination programs. The objective of this research was to estimate malaria prevalence, explore associated factors and detect pfhrp 2/3 genes, in the urban area of Tumaco between July and December 2019. Methods A prevalence study was conducted by using a stratified random probability sample. Structured surveys were administered and blood samples were taken and examined through optical microscopy, rapid diagnostic tests (RDT) and polymerase chain reaction (PCR). A logistic regression model was used to explore associated factors. Results 1,504 people living in 526 households were surveyed. The overall prevalence was 2.97% (95% CI: 2.1 - 4.3%). It was higher in males, in the 10-19 age group and in asymptomatic cases. The prevalence of pfhrp2 amplification was 2.16% (95% CI: 1.6 - 2.9%). Households with three or more people had a higher risk of malaria infection (adjusted odds ratio (ORa) 4.05; 95% confidence interval (CI) 1.57-10.43). All cases were due to P. falciparum. Conclusions The prevalence of urban malaria was low. Strategies to eliminate malaria in urban areas should be adjusted considering access to early diagnosis, asymptomatic infection, and the RDTs used to detect the presence of the pfhrp2 gene.

Prenatal diagnosis and genetic analysis of 9p24 microdeletion in six fetuses / 中华围产医学杂志

Objective:To investigate the prenatal diagnosis and genetic analysis of 9p24 microdeletion in six fetuses.Methods:Genetic data of six pregnant women with positive results of serological Down's syndrome screening at Henan Provincial People's Hospital from January 2018 to January 2020 were retrospectively collected and analyzed. Amniotic fluid and the parents' peripheral blood samples were subjected to G banding and array comparative genomic hybridization (aCGH) analysis. Detected copy number variation (CNV) were classified based on the American College of Medical Genetics and Genomics (ACMG) scoring standard.Results:Six fetuses showed no abnormalities in ultrasound during the second trimester as well as in karyotyping. A chromosome deletion of 1 019~6 001 kb at 9p24 was found in all six fetuses by aCGH, referring to disease-related genes DMRT1, SMARCA2, DOCK8, etc. The deletion of case 3 was inherited from the asymptomatic father, and the other fetal five were all de novo mutations. Cases 1, 2, 5, and 6 were pathogenic/likely pathogenic CNV carriers and cases 3 and 4 were CNV of unknown clinical significance carriers. After genetic counseling, cases 1, 2, 5, and 6 chose to terminate the pregnancies; cases 3 and 4 continued and gave birth to normal offspring. Conclusions:Fetuses with 9p24 microdeletion lack specific phenotypes before born. DMRT1 and SMARCA2 may be the key genes in this region.