Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 14.872
Filtrar
1.
Medicine (Baltimore) ; 99(40): e22496, 2020 Oct 02.
Artigo em Inglês | MEDLINE | ID: mdl-33019446

RESUMO

RATIONALE: 15q11.2 microdeletion syndrome is a relatively rare chromosomal abnormality with incomplete penetrance and phenotypic variability. The reports on prenatal ultrasound abnormalities of fetus with 15q11.2 microdeletion are rare. PATIENT CONCERNS: A 30-year-old woman was referred for genetic counseling and prenatal diagnosis at 19 weeks of gestation because of increased nuchal translucency in prenatal ultrasound findings and a history of spontaneous abortion. DIAGNOSES: The cytogenetic analysis showed the karyotype of the fetus was 46,XY, inv(4)(p15q31) and chromosomal microarray analysis detected a 0.512 Mb deletion in 15q11.2 region. We recalled the parents to determine the origination of these chromosomal abnormalities. INTERVENTIONS: The pregnant woman chose to continue the pregnancies and finally delivered a healthy male infant at 39 weeks. OUTCOMES: The fetus inherited the inv(4)(p15q31) from his mother while the deletion in 15q11.2 was identified as de novo. Given the normal phenotype of the mother, it was reasonable to assume that the maternal inherited inv(4) in the fetus would not increase the risk of his abnormal phenotype. However, the pathogenicity of the microdeletion in 15q11.2 for the infant is unknown and long-term follow-up of progeny should be paid more attention. LESSONS: The combined application of traditional banding technique and molecular cytogenetic techniques can not only detect chromosomal structural abnormalities, but also identify the subchromosomal imbalances, which is beneficial to genetic counselling and would offer more guidance to prenatal diagnosis.


Assuntos
Deficiência Intelectual/diagnóstico , Diagnóstico Pré-Natal/métodos , Adulto , Aberrações Cromossômicas , Cromossomos Humanos Par 15 , Feminino , Aconselhamento Genético , Humanos , Cariotipagem , Medição da Translucência Nucal , Gravidez
2.
Clin Dermatol ; 38(4): 408-420, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32972600

RESUMO

Genodermatoses are inherited disorders presenting with cutaneous manifestations with or without the involvement of other systems. The majority of these disorders, particularly in cases that present with a cutaneous patterning, may be explained in the context of genetic mosaicism. Despite the barriers to the genetic analysis of mosaic disorders, next-generation sequencing has led to a substantial progress in understanding their pathogenesis, which has significant implications for the clinical management and genetic counseling. Advances in paired and deep sequencing technologies in particular have made the study of mosaic disorders more feasible. In this review, we provide an overview of genetic mosaicism as well as mosaic cutaneous disorders and the techniques required to study them.


Assuntos
Mosaicismo , Dermatopatias Genéticas/diagnóstico , Dermatopatias Genéticas/genética , Feminino , Aconselhamento Genético , Testes Genéticos , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Masculino , Fenótipo , Dermatopatias Genéticas/etiologia , Dermatopatias Genéticas/patologia
3.
Artigo em Alemão | MEDLINE | ID: mdl-32816063

RESUMO

BACKGROUND: With the Act on Genetic Testing (GenDG), the German legislator has issued far-reaching regulations for human genetic services, including genetic counseling. This paper presents data on the use of human genetic counseling in the years before and after the entry into force of GenDG in order to provide an informed assessment of the possible effects of the law. MATERIALS AND METHODS: Over a period of 13 years (2005 to 2017), the human genetic counseling services provided within the framework of the statutory health insurance and billable by EBM via the Kassenärztliche associations were recorded via a database query at the Central Institute of the National Association of Statutory Health Insurance Physicians (ZI-KBV) and via individual Kassenärztliche Vereinigungen Deutschlands. For the discussion of the observable development of using genetic counseling and possible future development, additional data on the referral behavior, the waiting times, processing time, and reasons for consultations were extracted from the GenBIn database. RESULTS AND DISCUSSION: Demand for genetic counseling has steadily increased at an average rate of approximately 6% per year since 2009. This increase started well before the enactment of the GenDG and may be attributed to a multiplicity of factors. Change in demand for genetic counseling is characterized by increasing self-referrals and by increasing referrals by specialists other than obstetricians/gynecologists. Waiting times between 2011 and 2016/2017 have increased. While demand has been growing, the number of key service providers, the contracted medical specialists in human genetics, has remained almost constant. It is foreseeable that capacity limits will be reached if both trends continue.


Assuntos
Aconselhamento Genético , Programas Nacionais de Saúde , Testes Genéticos , Alemanha , Humanos , Encaminhamento e Consulta
4.
Breast Cancer Res Treat ; 184(1): 249-254, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-32772225

RESUMO

PURPOSE: The coronavirus disease (COVID-19) pandemic has had a profound impact on cancer care in the US Guidelines focused on the management of COVID-19, rather than healthcare needs of breast cancer patients requiring access to crucial services. This US survey of breast cancer survivors characterizes treatment delays early period in the pandemic. METHODS: We developed a survey and administered it to 609 adult breast cancer survivors in the US. We used snowball sampling with invitations distributed via social media. We used logistic regression to select a model of delay from a pool of independent variables including race, cancer stage, site of care, health insurance, and age. We used descriptive statistics to characterize delay types. RESULTS: Forty-four percent of participants reported cancer care treatment delays during the pandemic. Delays in all aspects of cancer care and treatment were reported. The only variable which had a significant effect was age (97 (.95, 99), p < 0.001) with younger respondents (M = 45.94, SD = 10.31) reporting a higher incidence of delays than older respondents (M = 48.98, SD = 11.10). There was no significant effect for race, insurance, site of care, or cancer stage. CONCLUSIONS: Our findings reveal a pervasive impact of COVID-19 on breast cancer care and a gap in disaster preparedness that leaves cancer survivors at risk for poor outcomes. Delays are critical to capture and characterize to help cancer providers and healthcare systems develop effective and patient-tailored processes and strategies to manage cases during the current pandemic wave, subsequent waves, and future disasters.


Assuntos
Neoplasias da Mama/terapia , Infecções por Coronavirus , Pandemias , Pneumonia Viral , Tempo para o Tratamento/estatística & dados numéricos , Adulto , Idoso , Idoso de 80 Anos ou mais , Antineoplásicos/uso terapêutico , Betacoronavirus , Neoplasias da Mama/diagnóstico por imagem , Assistência à Saúde , Diagnóstico por Imagem/estatística & dados numéricos , Feminino , Aconselhamento Genético/estatística & dados numéricos , Testes Genéticos/estatística & dados numéricos , Humanos , Modelos Logísticos , Masculino , Mamoplastia/estatística & dados numéricos , Mastectomia/estatística & dados numéricos , Pessoa de Meia-Idade , Ovariectomia/estatística & dados numéricos , Radioterapia/estatística & dados numéricos , Inquéritos e Questionários , Estados Unidos , Adulto Jovem
6.
8.
Arch. argent. pediatr ; 118(3): e258-e264, jun. 2020. tab, ilus
Artigo em Inglês, Espanhol | LILACS, BINACIS | ID: biblio-1116915

RESUMO

El síndrome de Silver-Russell se caracteriza por retraso del crecimiento intrauterino asimétrico, con circunferencia craneal normal, barbilla pequeña y puntiaguda, que proporciona un aspecto de rostro triangular. Puede, además, presentar asimetría corporal, entre otros. Tiene una incidencia mundial estimada de 1 en 30 000-100 000 nacimientos, aunque este número es, probablemente, subestimado. En alrededor del 60 % de los casos, se puede identificar una causa molecular y la principal es la hipometilación del alelo paterno en la región de control de impresión 1 localizado en 11p15.5-p15.4. Realizar el diagnóstico de esta entidad, excluir los diagnósticos diferenciales y conocer las correlaciones (epi)genotipo-fenotipo son necesarios para realizar el adecuado seguimiento, brindar las opciones terapéuticas disponibles y el oportuno asesoramiento genético familiar. El objetivo del presente artículo es mostrar el estado actual del síndrome de Silver-Russell, un ejemplo de trastorno de impronta genómica.


Silver-Russell syndrome is characterized by asymmetrical intrauterine growth retardation, with normal head circumference and small, pointed chin, which results in a triangular face. It can also include body asymmetry, among other characteristics. Its global incidence is estimated at 1 in 30 000-100 000 births, even though this figure may be underestimated. In approximately 60 % of cases, a molecular cause can be identified, and the main one is hypomethylation of the paternal allele at the imprinting control region 1 located at 11p15.5-p15.4. It is necessary to make the diagnosis of this entity, exclude differential diagnoses, and know (epi)genotype-phenotype correlations in order to ensure an adequate follow-up, provide available therapeutic options, and offer a timely family genetic counseling. The objective of this article is to describe the current status of the Silver-Russell syndrome, a model of genomic imprinting disorder.


Assuntos
Humanos , Masculino , Feminino , Síndrome de Silver-Russell/fisiopatologia , Fenótipo , Impressão Genômica , Diagnóstico Diferencial , Síndrome de Silver-Russell/diagnóstico , Síndrome de Silver-Russell/terapia , Retardo do Crescimento Fetal , Aconselhamento Genético , Genótipo
9.
PLoS One ; 15(6): e0232654, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32559196

RESUMO

Recently DNA sequencing analysis has played a vital role in the unambiguous diagnosis of clinically suspected patients with Duchenne Muscular Dystrophy (DMD). DMD is a monogenic, X-linked, recessive, degenerative pediatric neuromuscular disorder affecting males, invariably leading to fatal cardiopulmonary failure. Early and precise diagnosis of the disease is an essential part of an effective disease management strategy as care guidelines and prevention through counseling need to be initiated at the earliest particularly since therapies are now available for a subset of patients. In this manuscript we report the DMD gene mutational profiles of 961 clinically suspected male DMD patients, 99% of whom were unrelated. We utilized a molecular diagnostic approach which is cost-effective for most patients and follows a systematic process that sequentially involves identification of hotspot deletions using mPCR, large deletions and duplications using MLPA and small insertions/ deletions and point mutations using an NGS muscular dystrophy gene panel. Pathogenic DMD gene mutations were identified in 84% of patients. Our data compared well with the frequencies and distribution of deletions and duplications reported in the DMD gene in other published studies. We also describe a number of rare in-frame mutations, which appeared to be enriched in the 5' proximal hotspot region of the DMD gene. Furthermore, we identified a family with a rare non-contiguous deletion mutation in the DMD gene where three males were affected and two females were deemed carriers. A subset of patients with mutations in the DMD gene who are likely to benefit therapeutically from new FDA and EMA approved drugs were found in our cohort. Given that the burden of care for DMD patients invariably falls on the mothers, particularly in rural India, effective genetic counseling followed by carrier screening is crucial for prevention of this disorder. We analyzed the carrier status of consented female relatives of 463 probands to gauge the percentage of patients with familial disease. Our analysis revealed 43.7% of mothers with DMD gene mutations. Our comprehensive efforts, involving complete genetic testing coupled with compassionate genetic counseling provided to DMD patients and their families, are intended to improve the quality of life of DMD patients and to empower carrier females to make informed reproductive choices to impede the propagation of this deadly disease.


Assuntos
Distrofia Muscular de Duchenne/genética , Adolescente , Adulto , Criança , Pré-Escolar , Estudos de Coortes , Família , Feminino , Aconselhamento Genético , Heterozigoto , Humanos , Lactente , Recém-Nascido , Masculino , Distrofia Muscular de Duchenne/diagnóstico , Distrofia Muscular de Duchenne/prevenção & controle , Distrofia Muscular de Duchenne/terapia , Mutação , Fenótipo , Adulto Jovem
10.
Clin J Oncol Nurs ; 24(3): 244-248, 2020 06 01.
Artigo em Inglês | MEDLINE | ID: covidwho-343094

RESUMO

During the COVID-19 pandemic, in-person provision of cancer genetic counseling and education services was not possible for a prolonged period. This article outlines why such services can continue remotely, despite the disruption of a pandemic, as well as describes the strengths and limitations of remote counseling to individuals and families about their hereditary risk for developing cancer. Considerations for the provision of remote counseling and some of the challenges of telehealth, with potential solutions, are described.


Assuntos
Infecções por Coronavirus/epidemiologia , Aconselhamento Genético/métodos , Neoplasias/enfermagem , Pandemias , Pneumonia Viral/epidemiologia , Telemedicina , Humanos , Neoplasias/genética
11.
Pediatrics ; 145(6)2020 06.
Artigo em Inglês | MEDLINE | ID: mdl-32457214

RESUMO

Achondroplasia is the most common short-stature skeletal dysplasia, additionally marked by rhizomelia, macrocephaly, midface hypoplasia, and normal cognition. Potential medical complications associated with achondroplasia include lower extremity long bone bowing, middle-ear dysfunction, obstructive sleep apnea, and, more rarely, cervicomedullary compression, hydrocephalus, thoracolumbar kyphosis, and central sleep apnea. This is the second revision to the original 1995 health supervision guidance from the American Academy of Pediatrics for caring for patients with achondroplasia. Although many of the previously published recommendations remain appropriate for contemporary medical care, this document highlights interval advancements in the clinical methods available to monitor for complications associated with achondroplasia. This document is intended to provide guidance for health care providers to help identify individual patients at high risk of developing serious sequelae and to enable intervention before complications develop.


Assuntos
Acondroplasia/diagnóstico , Acondroplasia/terapia , Política de Saúde/tendências , Guias de Prática Clínica como Assunto , Acondroplasia/genética , Aconselhamento Genético/métodos , Aconselhamento Genético/tendências , Humanos , Cuidado Pré-Natal/métodos , Cuidado Pré-Natal/tendências
12.
Yakugaku Zasshi ; 140(5): 669-671, 2020.
Artigo em Japonês | MEDLINE | ID: mdl-32378670

RESUMO

Among breast cancer cases, 5-10% are thought to have germline mutations in genes associated with onset. Among these, hereditary breast cancer-ovarian cancer syndrome, which develops from breast cancer susceptibility (BRCA) gene mutation, has become widely known. Since 2018, olaparib has been clinically available for patients with inoperable or recurrent breast cancer. However, to use this medicine, BRCA gene mutation must be confirmed. Our hospital has prepared a BRCA genetic testing procedure, counseling system, and environment for the safe use of olaparib for BRCA genetic mutation positive patients. Until patients get the results of the BRCA gene examination, the attending physician and certified in breast cancer nurse care for the patient. If a positive result is obtained, we have established cooperation with a neighboring hospital, since our hospital cannot provide the genetic counseling. The main role of pharmacists is to develop a description system, as with other therapeutic agents, and to develop measures to help with supportive care for side effects. Also important is the development of a system to provide information to community pharmacies. At this symposium, we will report on how we developed our treatment strategy for patients with hereditary breast cancer syndrome, and the integrated role of pharmacists at Hamamatsu Medical Center.


Assuntos
Neoplasias da Mama/tratamento farmacológico , Neoplasias da Mama/genética , Testes Genéticos , Mutação em Linhagem Germinativa , Assistência ao Paciente , Ftalazinas/uso terapêutico , Piperazinas/uso terapêutico , Ubiquitina-Proteína Ligases/genética , Feminino , Aconselhamento Genético , Humanos , Japão , Neoplasias Ovarianas/genética , Neoplasias Ovarianas/terapia , Farmacêuticos , Papel Profissional , Síndrome
13.
Adv Exp Med Biol ; 1195: 199-204, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32468478

RESUMO

X-linked spinal and bulbar muscular atrophy (SBMA), also known as Kennedy syndrome, is an adult-onset neurodegenerative disorder characterized by slowly progressive muscle atrophy and other severe symptoms gradually leading to reduced mobility and ultimately to death due to respiratory failure. Two decades ago we reported the first prenatal diagnosis of SBMA worldwide. Here we present a Greek family in which we have performed seven prenatal DNA tests for SBMA mutation after extensive genetic counseling. Since there is not yet a cure for SBMA, prenatal testing may be a good choice for couples at risk for prevention of this neurodegenerative disorder in their offspring. The issues addressed during genetic counseling for such a disabling disorder of adult onset are discussed as a paradigm for other conditions with similar characteristics.


Assuntos
Atrofia Bulboespinal Ligada ao X/diagnóstico , Atrofia Bulboespinal Ligada ao X/genética , Saúde da Família , Aconselhamento Genético , Mutação , Diagnóstico Pré-Natal , Adulto , Atrofia Bulboespinal Ligada ao X/complicações , Feminino , Grécia , Humanos , Atrofia Muscular/complicações , Gravidez
14.
Am J Perinatol ; 37(8): 800-808, 2020 06.
Artigo em Inglês | MEDLINE | ID: mdl-32396948

RESUMO

As New York City became an international epicenter of the novel coronavirus disease 2019 (COVID-19) pandemic, telehealth was rapidly integrated into prenatal care at Columbia University Irving Medical Center, an academic hospital system in Manhattan. Goals of implementation were to consolidate in-person prenatal screening, surveillance, and examinations into fewer in-person visits while maintaining patient access to ongoing antenatal care and subspecialty consultations via telehealth virtual visits. The rationale for this change was to minimize patient travel and thus risk for COVID-19 exposure. Because a large portion of obstetric patients had underlying medical or fetal conditions placing them at increased risk for adverse outcomes, prenatal care telehealth regimens were tailored for increased surveillance and/or counseling. Based on the incorporation of telehealth into prenatal care for high-risk patients, specific recommendations are made for the following conditions, clinical scenarios, and services: (1) hypertensive disorders of pregnancy including preeclampsia, gestational hypertension, and chronic hypertension; (2) pregestational and gestational diabetes mellitus; (3) maternal cardiovascular disease; (4) maternal neurologic conditions; (5) history of preterm birth and poor obstetrical history including prior stillbirth; (6) fetal conditions such as intrauterine growth restriction, congenital anomalies, and multiple gestations including monochorionic placentation; (7) genetic counseling; (8) mental health services; (9) obstetric anesthesia consultations; and (10) postpartum care. While telehealth virtual visits do not fully replace in-person encounters during prenatal care, they do offer a means of reducing potential patient and provider exposure to COVID-19 while providing consolidated in-person testing and services. KEY POINTS: · Telehealth for prenatal care is feasible.. · Telehealth may reduce coronavirus exposure during prenatal care.. · Telehealth should be tailored for high risk prenatal patients..


Assuntos
Infecções por Coronavirus , Controle de Infecções/organização & administração , Pandemias , Pneumonia Viral , Complicações na Gravidez , Gravidez de Alto Risco , Cuidado Pré-Natal , Telemedicina , Betacoronavirus/isolamento & purificação , Infecções por Coronavirus/epidemiologia , Infecções por Coronavirus/prevenção & controle , Feminino , Aconselhamento Genético/métodos , Acesso aos Serviços de Saúde/organização & administração , Acesso aos Serviços de Saúde/tendências , Humanos , Cidade de Nova Iorque/epidemiologia , Pandemias/prevenção & controle , Pneumonia Viral/epidemiologia , Pneumonia Viral/prevenção & controle , Gravidez , Complicações na Gravidez/diagnóstico , Complicações na Gravidez/prevenção & controle , Cuidado Pré-Natal/métodos , Cuidado Pré-Natal/organização & administração , Cuidado Pré-Natal/tendências , Diagnóstico Pré-Natal/métodos , Consulta Remota/métodos , Telemedicina/instrumentação , Telemedicina/métodos , Telemedicina/organização & administração
16.
Clin J Oncol Nurs ; 24(3): 244-248, 2020 06 01.
Artigo em Inglês | MEDLINE | ID: mdl-32441683

RESUMO

During the COVID-19 pandemic, in-person provision of cancer genetic counseling and education services was not possible for a prolonged period. This article outlines why such services can continue remotely, despite the disruption of a pandemic, as well as describes the strengths and limitations of remote counseling to individuals and families about their hereditary risk for developing cancer. Considerations for the provision of remote counseling and some of the challenges of telehealth, with potential solutions, are described.


Assuntos
Infecções por Coronavirus/epidemiologia , Aconselhamento Genético/métodos , Neoplasias/enfermagem , Pandemias , Pneumonia Viral/epidemiologia , Telemedicina , Humanos , Neoplasias/genética
17.
Surg Clin North Am ; 100(3): 483-498, 2020 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-32402295

RESUMO

For most individuals, cancer development is multifactorial; however, up to 10% of all cancers are related to an inherited genetic mutation. As health care shifts to having a greater emphasis on prevention, care providers, including general surgeons, will need to play a role in identifying patients at high risk for cancer development. Genetic testing provides a tool to determine those patients with a genetic mutation and to whom appropriate preventive care and treatment may be offered. It is imperative for general surgeons to understand the role genetics plays in the care of individual patients and their relatives.


Assuntos
Neoplasias/genética , Polipose Adenomatosa do Colo/diagnóstico , Polipose Adenomatosa do Colo/genética , Neoplasias da Mama/diagnóstico , Neoplasias da Mama/genética , Neoplasias Colorretais Hereditárias sem Polipose/diagnóstico , Neoplasias Colorretais Hereditárias sem Polipose/genética , Análise Mutacional de DNA , Feminino , Aconselhamento Genético , Testes Genéticos , Humanos , Masculino , Neoplasias/diagnóstico , Síndromes Neoplásicas Hereditárias/diagnóstico , Síndromes Neoplásicas Hereditárias/genética , Neoplasias Ovarianas/diagnóstico , Neoplasias Ovarianas/genética , Linhagem , Cuidado Pré-Concepcional , Medição de Risco , Neoplasias Gástricas/genética
18.
Rev Med Suisse ; 16(695): 1106-1113, 2020 May 27.
Artigo em Francês | MEDLINE | ID: mdl-32462840

RESUMO

Breast cancer is the most frequently diagnosed neoplasm and principal one responsible for most death in women, specially under the age of 40. Hereditary and genetic syndromes are more prevalent among young breast cancer patients and require genetic counseling. Young women also exhibit larger tumors, with more frequent nodal involvement and aggressive features (triple negative, high grade and proliferation rate) than menopausal women. Fertility preservation and pregnancy-associated cancer are issues specific to this age group and need to be addressed accordingly.


Assuntos
Neoplasias da Mama/terapia , Preservação da Fertilidade/métodos , Neoplasias da Mama/genética , Feminino , Aconselhamento Genético , Humanos , Gravidez , Complicações na Gravidez/genética , Complicações na Gravidez/terapia
19.
J Surg Oncol ; 122(2): 134-143, 2020 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-32346886

RESUMO

BACKGROUND AND OBJECTIVES: Many newly diagnosed breast cancer patients do not receive genetic counseling and testing at the time of diagnosis. We examined predictors of genetic testing (GT) in this population. METHODS: Within a randomized controlled trial of proactive rapid genetic counseling and testing vs usual care, patients completed a baseline survey within 6 weeks of breast cancer diagnosis but before a definitive survey. We conducted a multinomial logistic regression to identify predictors of GT timing/uptake. RESULTS: Having discussed GT with a surgeon was a dominant predictor (χ2 (2, N = 320) = 70.13; P < .0001). Among those who discussed GT with a surgeon, patients who had made a final surgery decision were less likely to receive GT before surgery compared with postsurgically (OR [odds ratio] = 0.24; 95% confidence interval [CI] = 0.12-0.49) or no testing (OR = 0.28; 95% CI = 0.14-0.56). Older patients (OR = 0.95; 95% CI = 0.91-0.99) and participants enrolled in New York/New Jersey (OR = 0.22; 95% CI = 0.07-0.72) were less likely to be tested compared with receiving results before surgery. Those with higher perceived risk (OR = 1.02; 95% CI = 1.00-1.03) were more likely to receive results before surgery than to not be tested. CONCLUSIONS: This study highlights the role of patient-physician communication about GT as well as patient-level factors that predict presurgical GT.


Assuntos
Neoplasias da Mama/genética , Testes Genéticos/estatística & dados numéricos , Adulto , Neoplasias da Mama/epidemiologia , Neoplasias da Mama/cirurgia , Tomada de Decisões , Feminino , Aconselhamento Genético/estatística & dados numéricos , Humanos , Modelos Logísticos , Mid-Atlantic Region/epidemiologia , Pessoa de Meia-Idade , Ensaios Clínicos Controlados Aleatórios como Assunto , Inquéritos e Questionários
20.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 37(5): 584-587, 2020 May 10.
Artigo em Chinês | MEDLINE | ID: mdl-32335892

RESUMO

With the application of BACs-on-BeadsTM (BoBs) and array-comparative genome hybridization (aCGH) technologies in prenatal diagnosis, microdeletion/microduplications at Xp22.3 have been frequently detected. However, the relatively high prevalence and lack of knowledge of such disorders have brought difficulties for clinical genetic counseling. Here, recent progress of research on microdeletion/microduplications at Xp22.3, including epidemiology, pathogenesis, clinical manifestation, and prenatal diagnosis, is reviewed.


Assuntos
Cromossomos Humanos X , Diagnóstico Pré-Natal , Cromossomos Humanos X/genética , Hibridização Genômica Comparativa , Feminino , Aconselhamento Genético , Humanos , Cariotipagem , Gravidez , Pesquisa/tendências
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA