Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 7 de 7
Filtrar
1.
Chinese Journal of Medical Genetics ; (6): 1425-1429, 2023.
Artículo en Chino | WPRIM | ID: wpr-1009316

RESUMEN

OBJECTIVE@#To carry out genetic analysis for a Chinese pedigree affected with intellectual disability and overgrowth due to a supernumerary marker chromosome (sSMC).@*METHODS@#A pedigree which had presented at Jiaxing Maternity and Child Health Care Hospital on August 31, 2021 was selected as the study subject, for which chromosomal karyotyping, single nucleotide polymorphism-based microarray (SNP-array), and fluorescence in situ hybridization (FISH) were carried out in combination.@*RESULTS@#SNP-array analysis showed that the proband and his sister had both harbored a 16.1 Mb duplication which encompassed the critical region of 15q26 overgrowth syndrome. FISH confirmed that the proband was 47,XX,+neo(15)(qter→q25.3:)mat, her mother was 47,XX,del(15)(q25.3:),+neo(15)(qter→q25.3:), whilst her father was normal.@*CONCLUSION@#Application of multiple genetic techniques has facilitated delineation of the origin of sSMC and reliable genetic counseling for this pedigree.


Asunto(s)
Femenino , Humanos , Masculino , Cromosomas , Pueblos del Este de Asia , Hibridación Fluorescente in Situ , Cariotipificación , Linaje , Polimorfismo de Nucleótido Simple , Discapacidad Intelectual/genética , Duplicación Cromosómica/genética
2.
Chinese Journal of Medical Genetics ; (6): 1069-1073, 2020.
Artículo en Chino | WPRIM | ID: wpr-827742

RESUMEN

OBJECTIVE@#To assess the value of non-invasive prenatal testing (NIPT) for the screening of fetal chromosomal abnormalities.@*METHODS@#For 12 085 pregnant women, the results of NIPT and invasive prenatal diagnosis were compared.@*RESULTS@#The test was successful in 12 067 cases and has detected 179 chromosomal abnormalities, with a positive rate of 1.48%, sensitivity of 98.39% and specificity of 99.02%. Invasive prenatal diagnosis was performed for 3 of 18 patients who had failed NIPT but has detected no karyotypic abnormality. Except for one case of twin Cesarean section which delivered a normal female fetus and a stillbirth of unknown sex, the remainder of the 18 cases all had a normal delivery. The positive rate of NIPT screening for the abnormal ultrasound group was significant higher than that other groups (P< 0.01). Among those with positive results of NIPT, 122 underwent invasive prenatal diagnosis, and 25 trisomy 21, 7 trisomy 18, 3 trisomy 13, 4 aneuploidies of other autosomes, 13 sex chromosomal aneuploidies and 9 microdeletion/microduplications were confirmed, which yielded a positive predictive rate of 86.21%, 50.00%, 23.08%, 21.05%, 46.43%, and 47.36%, respectively.@*CONCLUSION@#NIPT has high sensitivity, specificity and positive predictive value, and is an effective method for prenatal screening. In addition to chromosomes 21, 18 and 13, NIPT has certain predictive value for other autosomal aneuploidies, sex chromosomal aneuploidies, microdeletion/microduplications, and can provide a reference for karyotype analysis and chromosomal microarray verification.

3.
Chinese Journal of Medical Genetics ; (6): 1387-1390, 2020.
Artículo en Chino | WPRIM | ID: wpr-879506

RESUMEN

OBJECTIVE@#To carry out prenatal diagnose for a fetus with ultrasonography abnormalities using multiple genetic techniques.@*METHODS@#Routine G-banding chromosomal analysis and single nucleotide polymorphism array (SNP-array) were applied in conjunction for the prenatal diagnosis of the fetus. The result was confirmed by fluorescence in situ hybridization (FISH).@*RESULTS@#SNP-array detected that the fetus has carried a hemizygous 5.1 Mb deletion at 22q13.31q13.33, which is associated with Phelan-McDermid syndrome, and a hemizygous 4.5 Mb deletion at 21q21.1q21.2. FISH analysis of the fetus and its parents suggested that both deletions were de novo in origin.@*CONCLUSION@#The hemizygous deletions on 21q21.1q21.2 and 22q13.31q13.33 probably underlay the abnormal phenotype of the fetus. Genetic analysis can provide crucial information for the prenatal diagnosis and genetic counseling.


Asunto(s)
Femenino , Humanos , Masculino , Embarazo , Deleción Cromosómica , Trastornos de los Cromosomas/genética , Cromosomas Humanos Par 21/genética , Cromosomas Humanos Par 22/genética , Feto , Hibridación Fluorescente in Situ , Polimorfismo de Nucleótido Simple , Diagnóstico Prenatal , Eliminación de Secuencia/genética
4.
Chinese Journal of Medical Genetics ; (6): 857-860, 2017.
Artículo en Chino | WPRIM | ID: wpr-344160

RESUMEN

<p><b>OBJECTIVE</b>To determine the origin of a supernumerary small marker chromosome found in a fetus using prenatal BACs-on-Beads (BoBs) and single nucleotide polymorphism array (SNP-array) assays.</p><p><b>METHODS</b>The fetal sample was subjected to chromosomal karyotyping and BoBs analysis, and the results were validated with genome-wide scanning using a SNP microarray.</p><p><b>RESULTS</b>The fetus was found to have a 47,XX,+mar karyotype. BoBs analysis indicated that there was an amplification between 18p11.32 and 18p11.21, which was verified by the SNP-array assay as a 18.3 Mb duplication occurring at 18p11.32q11.1.</p><p><b>CONCLUSION</b>The karyotype of the fetus was determined as 47,XX,+der18(18p11.32?18q11.1::18q11.1?18p11.32). The duplication has involved important genes including SMCHD1, LPIN2 and TGIF1, which may result in severe malformations in the fetus.</p>


Asunto(s)
Adulto , Femenino , Humanos , Embarazo , Aneuploidia , Cromosomas Artificiales Bacterianos , Genética , Cromosomas Humanos Par 18 , Genética , Cariotipificación , Análisis por Micromatrices , Métodos , Polimorfismo de Nucleótido Simple , Diagnóstico Prenatal , Métodos
5.
Chinese Journal of Medical Genetics ; (6): 682-685, 2016.
Artículo en Chino | WPRIM | ID: wpr-345380

RESUMEN

<p><b>OBJECTIVE</b>To explore the origin of a supernumerary small marker chromosome (sSMC) in a fetus, and to assess the feasibility of single nucleotide polymorphism array (SNP-array) for prenatal diagnosis.</p><p><b>METHODS</b>The fetal sample was subjected to karyotyping analysis. The identified sSMC was subjected to genome-wide scan using a SNP microarray chip. The results were validated with fluorescence in situ hybridization (FISH).</p><p><b>RESULTS</b>The karyotype of the fetus was determined as 47,XX,+mar, which was verified by SNP microarray chip analysis as a 34.6 Mb duplication in 12p13.33p11.1. FISH analysis confirmed that the sSMC has originated from chromosome 12p.</p><p><b>CONCLUSION</b>The karyotype of the fetus was determined as 47,XX,+i(12)(p10). Tetrasomy 12p is reported to be a marker for Pallister-Killian syndrome, which may result in multi-system anomalies. SNP-array analysis can simultaneously detect microdeletions and microduplications, which may be used for prenatal diagnosis of suspected cases.</p>


Asunto(s)
Adulto , Femenino , Humanos , Embarazo , Aberraciones Cromosómicas , Bandeo Cromosómico , Trastornos de los Cromosomas , Diagnóstico por Imagen , Embriología , Genética , Cromosomas Humanos Par 12 , Genética , Feto , Anomalías Congénitas , Diagnóstico por Imagen , Metabolismo , Estudio de Asociación del Genoma Completo , Métodos , Hibridación Fluorescente in Situ , Cariotipo , Cariotipificación , Análisis de Secuencia por Matrices de Oligonucleótidos , Métodos , Polimorfismo de Nucleótido Simple , Ultrasonografía Prenatal , Métodos
6.
Chinese Journal of Medical Genetics ; (6): 501-504, 2016.
Artículo en Chino | WPRIM | ID: wpr-247648

RESUMEN

<p><b>OBJECTIVE</b>To explore the genetic causes for a child with multiple congenital malformations and epilepsy through analysis of copy number variations, and to correlate the genotype with the phenotype.</p><p><b>METHODS</b>G-banding karyotyping was performed on the child and her parents. Single nucleotide polymorphisms array (SNP-array) was used to map the exact chromosomal breakpoints in the proband. The result was validated with fluorescence in situ hybridization (FISH).</p><p><b>RESULTS</b>G banding analysis suggested that the proband had a karyotype of 46,XX,del(4)(p15), while both of his parents had a normal karyotype. SNP-array has identified a hemizygous deletion of 13.3 Mb on chromosome 4p16.3p15.33, which has been implicated in Wolf-Hirschhorn syndrome. FISH assay has confirmed the de novo origin of the deletion, with the karyotype and clinical phenotype of both parents taken into consideration.</p><p><b>CONCLUSION</b>A case of Wolf-Hirschhorn syndrome has been diagnosed by clinical manifestation and karyotyping analysis. Compared with conventional karyotyping analysis, SNP-array has greater resolution and accuracy, and can provide useful information for genetic counseling.</p>


Asunto(s)
Femenino , Humanos , Recién Nacido , Bandeo Cromosómico , Hibridación Fluorescente in Situ , Cariotipificación , Análisis de Secuencia por Matrices de Oligonucleótidos , Polimorfismo de Nucleótido Simple , Síndrome de Wolf-Hirschhorn , Genética
7.
Chinese Journal of Medical Genetics ; (6): 529-532, 2015.
Artículo en Chino | WPRIM | ID: wpr-288037

RESUMEN

<p><b>OBJECTIVE</b>To explore the genetic cause for a child with mental retardation, developmental delay and multi-systemic developmental disorders by analyzing the copy number variations (CNVs) and correlating the genotype with the phenotype.</p><p><b>METHODS</b>Routine G-banding was performed to analyze the karyotype of the patient and her parents. In addition, single nucleotide polymorphisms array (SNP-array) was used to determine the CNVs, which was confirmed by fluorescence in situ hybridization (FISH).</p><p><b>RESULTS</b>No karyotypic abnormality was detected upon chromosome analysis. However, SNP-array has identified a de novo hemizygous deletion of 1673 kb on chromosome region 7q11.23, which has been associated with Williams-Beuren syndrome. The microdeletion was confirmed by FISH testing.</p><p><b>CONCLUSION</b>A child with Williams-Beuren syndrome has been diagnosed by SNP-array and FISH. The de novo 7q11.23 microdeletion probably underlies the clinical manifestation of the patient. Compared with routine karyotype analysis, SNP-array is more useful for diagnosing children with multiple congenital anomalies with unclear etiology.</p>


Asunto(s)
Adulto , Preescolar , Femenino , Humanos , Masculino , Pueblo Asiatico , Genética , China , Bandeo Cromosómico , Cromosomas Humanos Par 7 , Genética , Variaciones en el Número de Copia de ADN , Cariotipificación , Linaje , Polimorfismo de Nucleótido Simple , Síndrome de Williams , Diagnóstico , Genética
SELECCIÓN DE REFERENCIAS
DETALLE DE LA BÚSQUEDA