BACKGROUND Tetrasomy 18p is a rare chromosome abnormality disorder known to have consid-erable variability in clinical features and gathering data from different cases will help clinicians and researchers learn about ...BACKGROUND Tetrasomy 18p is a rare chromosome abnormality disorder known to have consid-erable variability in clinical features and gathering data from different cases will help clinicians and researchers learn about its genotype-phenotype relationship and diagnosis.CASE SUMMARY Herein,we have reviewed the literature on phenotypic features of this disorder and described the phenotypic and cytogenetic features of a girl of early childhood with tetrasomy 18p for the first time from Iran.This patient showed a strong sense of smell(a unique feature not reported previously for this syndrome),had clenched hand,pes planus,forward head posture in walking and hirsutism(dysmorphic features less reported),and showed 10 clinical features that are generally observed in previously reported cases,including developmental delay/intellectual disability,triangular face,smooth philtrum,feeding difficulties,hypotonia,epicanthus,strabismus,history of constipation,growth retardation and foot anomalies.G-banding chromosome analysis from peripheral blood revealed an abnormal female karyotype with a small marker chromosome(47,XX,+mar),and oligo-array comparative genomic hybridization displayed a gain of 14Mb of the 18p arm containing 56 Online Mendelian Inheritance in Man(OMIM)genes in this patient.Overall,this patient seems to have mild phenotypes.CONCLUSION This Iranian tetrasomy 18p child displays a uniquely strong sense of smell,some less reported dysmorphic features and ten features generally reported.展开更多
Cytogenetic abnormalities are the hallmark of leukemias. We report here two cases of unusual cytogenetic abnormalities associated with Philadelphia chromosome, one with mixed phenotypic acute leukemia showing monosomy...Cytogenetic abnormalities are the hallmark of leukemias. We report here two cases of unusual cytogenetic abnormalities associated with Philadelphia chromosome, one with mixed phenotypic acute leukemia showing monosomy 7 and t(9;22)(q34;q11.2) and the other with chronic myeloid leukemia and additional translocation involving chromosomes 10 and 13. Both patients achieved complete remission following imatinib based treatment.展开更多
Background High-risk infants refer to newborns exposed to high-risk factors in the prenatal, natal or postnatal period. High-risk infants are at high risk of developmental retardation, and early identification of deve...Background High-risk infants refer to newborns exposed to high-risk factors in the prenatal, natal or postnatal period. High-risk infants are at high risk of developmental retardation, and early identification of developmental abnormalities plays a vital role in improving high-risk infants' quality of life.Aims To describe the neurodevelopment of high-risk infants aged less than 1 year old, and to analyse the incidences and influencing factors of neurodevelopmental abnormalities in order to provide a basis for neurodevelopment monitoring and management of highrisk infants.Methods High-risk infants born between January 2016 and December 2016 in the maternity and infant health hospitals of three districts in Shanghai were followed up.The Gesell Developmental Scale was used to assess the neurodevelopmental level at the time of recruitment(0-2 months) and at 9 months. Univariate and multivariate analyses of the influencing factors were conducted.Results 484 high-risk infants(male 51 %, female 49%)with an average gestation age of 36.5±2.2 weeks were recruited. At the time of recruitment, the average age was2.1(0.8) months, and the developmental quotient(DQ)scores of full-term high-risk infants in motor(t=3.542,p=0.001), cognitive(t=3.125, p=0.002), language(t=3.189, p=0.002) and social(t=3.316, p=0.001) areas were higher than those of preterm infants. The incidences of developmental abnormalities of full-term high-risk infants in motor(χ~2 =9.452, p=0.002), cognitive(χ~2=6.258, p=0.012), language(χ~2 =12.319, p =0.001) and social(χ~2 =6.811, p=0.009) areas were lower than the preterm infants. At 9 months, there was no difference in the DQ scores and incidences of developmental abnormalities in four areas between full-term and preterm high-risk infants, and the incidence of developmental abnormalities was around 10%.Conclusion The incidence of neurodevelopmental abnormalities in high-risk infants aged less than 1 year old is high. Preterm birth and parental bad habits are significant factors affecting the neurodevelopment.Monitoring and early interventions help to improve highrisk infants' neurodevelopment.展开更多
Objective:To guide the pregnancy and delivery of patients with abnormal uterus through analyzing the delivery outcomes of them.Methods:A total of 32 pregnant cases with abnormal uterus were collected in the North Chin...Objective:To guide the pregnancy and delivery of patients with abnormal uterus through analyzing the delivery outcomes of them.Methods:A total of 32 pregnant cases with abnormal uterus were collected in the North China University of Science and Technology Affiliated Hospital from 2011 to 2018.7615 cases with normal uterus who visited the hospital and delivered during the same period were also collected.The rate of abnormal fetal position,premature rupture of membranes,premature delivery,postpartum complications,and caesarean section,were compared between the two groups by the χ^2 test through SPSS.P values less than 0.05 were considered statistically significant.Results:There were significant differences in abnormal fetal position,premature rupture of membranes,premature delivery and spontaneous birth rate between the two groups(P<0.05),but there was no significant difference in the incidence of postpartum hemorrhage between the two groups(P>0.05).In the cause of cesarean section,there was significant difference in abnormal fetal position and scarred uterus(P<0.05),but no significant difference in placenta previa and other causes(P>0.05).Conclusion:Abnormal fetal position,premature rupture of membranes and premature delivery are more likely to occur in pregnant women with abnormal uterus than in normal ones.The rate of cesarean section in patients with abnormal uterus is significantly higher than that of normal uterus,due to the main reason of abnormal fetal position.Abnormal uterus is a high-risk factor for pregnant women,and patients with abnormal uterus should be strengthened the management of pregnancy and relaxed the indications of cesarean section.展开更多
Objective:There is a high incidence of birth defects in China,and prenatal diagnosis is an important method of intervention.This study aims to describe the clinical indications and cytogenetic results of amniocentesis...Objective:There is a high incidence of birth defects in China,and prenatal diagnosis is an important method of intervention.This study aims to describe the clinical indications and cytogenetic results of amniocentesis cases in central China.Methods:We retrospectively reviewed cases at the Maternal and Child Care Service Centre in Henan Province from January 2012 to December 2014.A total of 4497 at-risk mothers(risk factors:advanced maternal age,history of intrauterine fetal death or aborted fetuses,chromosomal abnormality in one of the parents,high-risk maternal serum screening results,and abnormal ultrasonographic findings in the first or second trimester)were recruited for amniocentesis(AS).The subjects included were between 11–14 and 18–22 weeks of gestation.All cases were divided into two groups based on instrument-independent or instrument-dependent indications.Results:A total of 4146 cases were analyzed.Of these,chromosomal abnormalities were detected in 232 cases(5.6%),and autosomal aneuploidy,including trisomy 21 and trisomy 18,was found to be the most common(55.7%)chromosomal abnormality.The mean age of 29.94 years was not expected as all mothers older than 35 years old were routinely offered amniocentesis at the time of the study.Amniocentesis was carried out in 1711 cases because of instrument-independent indications,and 285 of these cases were diagnosed with chromosomal abnormality.In 2376 cases,amniocentesis was conducted because of instrumentdependent indications,and 176 of these were diagnosed with chromosomal abnormality.Thus,5.6%of the cases were diagnosed with chromosomal abnormalities,and autosomal aneuploidy,including trisomy 21 and trisomy 18,were the most common chromosomal abnormalities detected in the present study Conclusion:Our result indicated the significance of instrument-independent indications in the screening of chromosomal abnormalities,especially in developing areas.Birth defects may be reduced by paying more attention to the patients’history of medication.展开更多
Acute myeloid leukemia (AML) is a phenotypically heterogeneous disorder. The M4 subtype of AML is frequently associated with the cytogenetic marker inversion 16 and/or the presence of eosinophilia. Blast crisis is the...Acute myeloid leukemia (AML) is a phenotypically heterogeneous disorder. The M4 subtype of AML is frequently associated with the cytogenetic marker inversion 16 and/or the presence of eosinophilia. Blast crisis is the aggressive phase of the triphasic chronic myeloid leukemia (CML), which is a disease with Philadelphia (Ph) chromosome as the major abnormality. In the present study, we report a 76-year-old patient suspected of having AML with eosinophilic differentiation (AML-M4), which in clinical tests resembles CML blast crisis with multiple chromosomal abnormalities. Isochromosome 21 [i(21)(q10)] was the most recurrent feature noted in metaphases with 46 chromosomes. Ring chromosome, tetraploid endoreduplication, recurrent aneuploid clones with loss of X chromosome, monosomy 17, monosomy 7, and structural variation translocation (9;14) were also observed in this patient. Fluorescent in situ hybridization (FISH) confirmed the absence of Ph chromosome. This report shows how cytogenetic analyses revealed atypical structural aberrations in the M4 subtype of AML.展开更多
文摘BACKGROUND Tetrasomy 18p is a rare chromosome abnormality disorder known to have consid-erable variability in clinical features and gathering data from different cases will help clinicians and researchers learn about its genotype-phenotype relationship and diagnosis.CASE SUMMARY Herein,we have reviewed the literature on phenotypic features of this disorder and described the phenotypic and cytogenetic features of a girl of early childhood with tetrasomy 18p for the first time from Iran.This patient showed a strong sense of smell(a unique feature not reported previously for this syndrome),had clenched hand,pes planus,forward head posture in walking and hirsutism(dysmorphic features less reported),and showed 10 clinical features that are generally observed in previously reported cases,including developmental delay/intellectual disability,triangular face,smooth philtrum,feeding difficulties,hypotonia,epicanthus,strabismus,history of constipation,growth retardation and foot anomalies.G-banding chromosome analysis from peripheral blood revealed an abnormal female karyotype with a small marker chromosome(47,XX,+mar),and oligo-array comparative genomic hybridization displayed a gain of 14Mb of the 18p arm containing 56 Online Mendelian Inheritance in Man(OMIM)genes in this patient.Overall,this patient seems to have mild phenotypes.CONCLUSION This Iranian tetrasomy 18p child displays a uniquely strong sense of smell,some less reported dysmorphic features and ten features generally reported.
文摘Cytogenetic abnormalities are the hallmark of leukemias. We report here two cases of unusual cytogenetic abnormalities associated with Philadelphia chromosome, one with mixed phenotypic acute leukemia showing monosomy 7 and t(9;22)(q34;q11.2) and the other with chronic myeloid leukemia and additional translocation involving chromosomes 10 and 13. Both patients achieved complete remission following imatinib based treatment.
基金funded by the'Three-Year Action Plan for Strengthening the Public Health System in Shanghai(2015-2017)–Management of High-risk infants with Multidisciplinary Cooperation',project number:GWIV-19
文摘Background High-risk infants refer to newborns exposed to high-risk factors in the prenatal, natal or postnatal period. High-risk infants are at high risk of developmental retardation, and early identification of developmental abnormalities plays a vital role in improving high-risk infants' quality of life.Aims To describe the neurodevelopment of high-risk infants aged less than 1 year old, and to analyse the incidences and influencing factors of neurodevelopmental abnormalities in order to provide a basis for neurodevelopment monitoring and management of highrisk infants.Methods High-risk infants born between January 2016 and December 2016 in the maternity and infant health hospitals of three districts in Shanghai were followed up.The Gesell Developmental Scale was used to assess the neurodevelopmental level at the time of recruitment(0-2 months) and at 9 months. Univariate and multivariate analyses of the influencing factors were conducted.Results 484 high-risk infants(male 51 %, female 49%)with an average gestation age of 36.5±2.2 weeks were recruited. At the time of recruitment, the average age was2.1(0.8) months, and the developmental quotient(DQ)scores of full-term high-risk infants in motor(t=3.542,p=0.001), cognitive(t=3.125, p=0.002), language(t=3.189, p=0.002) and social(t=3.316, p=0.001) areas were higher than those of preterm infants. The incidences of developmental abnormalities of full-term high-risk infants in motor(χ~2 =9.452, p=0.002), cognitive(χ~2=6.258, p=0.012), language(χ~2 =12.319, p =0.001) and social(χ~2 =6.811, p=0.009) areas were lower than the preterm infants. At 9 months, there was no difference in the DQ scores and incidences of developmental abnormalities in four areas between full-term and preterm high-risk infants, and the incidence of developmental abnormalities was around 10%.Conclusion The incidence of neurodevelopmental abnormalities in high-risk infants aged less than 1 year old is high. Preterm birth and parental bad habits are significant factors affecting the neurodevelopment.Monitoring and early interventions help to improve highrisk infants' neurodevelopment.
文摘Objective:To guide the pregnancy and delivery of patients with abnormal uterus through analyzing the delivery outcomes of them.Methods:A total of 32 pregnant cases with abnormal uterus were collected in the North China University of Science and Technology Affiliated Hospital from 2011 to 2018.7615 cases with normal uterus who visited the hospital and delivered during the same period were also collected.The rate of abnormal fetal position,premature rupture of membranes,premature delivery,postpartum complications,and caesarean section,were compared between the two groups by the χ^2 test through SPSS.P values less than 0.05 were considered statistically significant.Results:There were significant differences in abnormal fetal position,premature rupture of membranes,premature delivery and spontaneous birth rate between the two groups(P<0.05),but there was no significant difference in the incidence of postpartum hemorrhage between the two groups(P>0.05).In the cause of cesarean section,there was significant difference in abnormal fetal position and scarred uterus(P<0.05),but no significant difference in placenta previa and other causes(P>0.05).Conclusion:Abnormal fetal position,premature rupture of membranes and premature delivery are more likely to occur in pregnant women with abnormal uterus than in normal ones.The rate of cesarean section in patients with abnormal uterus is significantly higher than that of normal uterus,due to the main reason of abnormal fetal position.Abnormal uterus is a high-risk factor for pregnant women,and patients with abnormal uterus should be strengthened the management of pregnancy and relaxed the indications of cesarean section.
文摘Objective:There is a high incidence of birth defects in China,and prenatal diagnosis is an important method of intervention.This study aims to describe the clinical indications and cytogenetic results of amniocentesis cases in central China.Methods:We retrospectively reviewed cases at the Maternal and Child Care Service Centre in Henan Province from January 2012 to December 2014.A total of 4497 at-risk mothers(risk factors:advanced maternal age,history of intrauterine fetal death or aborted fetuses,chromosomal abnormality in one of the parents,high-risk maternal serum screening results,and abnormal ultrasonographic findings in the first or second trimester)were recruited for amniocentesis(AS).The subjects included were between 11–14 and 18–22 weeks of gestation.All cases were divided into two groups based on instrument-independent or instrument-dependent indications.Results:A total of 4146 cases were analyzed.Of these,chromosomal abnormalities were detected in 232 cases(5.6%),and autosomal aneuploidy,including trisomy 21 and trisomy 18,was found to be the most common(55.7%)chromosomal abnormality.The mean age of 29.94 years was not expected as all mothers older than 35 years old were routinely offered amniocentesis at the time of the study.Amniocentesis was carried out in 1711 cases because of instrument-independent indications,and 285 of these cases were diagnosed with chromosomal abnormality.In 2376 cases,amniocentesis was conducted because of instrumentdependent indications,and 176 of these were diagnosed with chromosomal abnormality.Thus,5.6%of the cases were diagnosed with chromosomal abnormalities,and autosomal aneuploidy,including trisomy 21 and trisomy 18,were the most common chromosomal abnormalities detected in the present study Conclusion:Our result indicated the significance of instrument-independent indications in the screening of chromosomal abnormalities,especially in developing areas.Birth defects may be reduced by paying more attention to the patients’history of medication.
基金supported by a grant from Kerala State Council for Science, Technology and Environment(KSCSTE), Govt. of Kerala, India
文摘Acute myeloid leukemia (AML) is a phenotypically heterogeneous disorder. The M4 subtype of AML is frequently associated with the cytogenetic marker inversion 16 and/or the presence of eosinophilia. Blast crisis is the aggressive phase of the triphasic chronic myeloid leukemia (CML), which is a disease with Philadelphia (Ph) chromosome as the major abnormality. In the present study, we report a 76-year-old patient suspected of having AML with eosinophilic differentiation (AML-M4), which in clinical tests resembles CML blast crisis with multiple chromosomal abnormalities. Isochromosome 21 [i(21)(q10)] was the most recurrent feature noted in metaphases with 46 chromosomes. Ring chromosome, tetraploid endoreduplication, recurrent aneuploid clones with loss of X chromosome, monosomy 17, monosomy 7, and structural variation translocation (9;14) were also observed in this patient. Fluorescent in situ hybridization (FISH) confirmed the absence of Ph chromosome. This report shows how cytogenetic analyses revealed atypical structural aberrations in the M4 subtype of AML.
