Value of chromosomal microarray analysis for the diagnosis of fetuses with anomalies of central nervous system / 中华医学遗传学杂志

OBJECTIVE@#To assess the value of chromosomal microarray analysis (CMA) for the diagnosis of fetuses with anomalies of the central nervous system (CNS) and summarize the outcome of the pregnancies and follow-up.@*METHODS@#A total of 636 fetuses from June 2014 to December 2020 who were referred to the Prenatal Diagnosis Center of Nanjing Drum Tower Hospital due to abnormal CNS prompted by ultrasound were selected as the research subjects. Based on the ultrasound findings, the fetuses were divided into ventricular dilatation group (n = 441), choroid plexus cyst group (n = 41), enlarged posterior fossa group (n = 42), holoprosencephaly group (n = 15), corpus callosum hypoplasia group (n = 22), and other anomaly group (n = 75). Meanwhile, they were also divided into isolated (n = 504) and non-isolated (n = 132) groups based on the presence of additional abnormalities. Prenatal samples (amniotic fluid/chorionic villi/umbilical cord blood) or abortus tissue were collected for the extraction of genomic DNA and CMA assay. Outcome of the pregnancies and postnatal follow-up were summarized and subjected to statistical analysis.@*RESULTS@#In total 636 fetuses with CNS anomalies (including 89 abortus tissues) were included, and 547 cases were followed up. The overall detection rate of CMA was 11.48% (73/636). The detection rates for the holoprosencephaly group, ACC group, choroid plexus cyst group, enlarged posterior fossa group, ventricular dilatation group and other anomaly group were 80% (12/15), 31.82% (7/22), 19.51% (8/41), 14.29% (6/42), 7.48% (33/441) and 9.33% (7/75), respectively. Compared with the isolated CNS anomaly group, the detection rate for the non-isolated CNS anomaly group was significantly higher (6.35% vs. 31.06%) (32/504 vs. 41/132) (χ² = 62.867, P < 0.001). Follow up showed that, for 52 fetuses with abnormal CMA results, 51 couples have opted induced labor, whilst 1 was delivered at full term with normal growth and development. Of the 434 fetuses with normal CMA results, 377 were delivered at full term (6 had developmental delay), and 57 couples had opted induced labor. The rate of adverse pregnancy outcome for non-isolated CNS abnormal fetuses was significantly higher than that of isolated CNS abnormal fetuses (26.56% vs. 10.54%) (17/64 vs. 39/370) (χ² = 12.463, P < 0.001).@*CONCLUSION@#Fetuses with CNS anomaly should be tested with CMA to determine the genetic cause. Most fetuses with negative CMA result have a good prognosis, but there is still a possibility for a abnormal neurological phenotype. Fetuses with CNS abnormalities in conjunct with other structural abnormalities are at increased risk for adverse pregnancy outcomes.

Analysis of genetic etiology and related factors in 1 065 women with spontaneous abortions / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic etiology and related factors in 1 065 women with spontaneous abortions.@*METHODS@#All patients have presented at the Center of Prenatal Diagnosis of Nanjing Drum Tower Hospital from January 2018 to December 2021. Chorionic villi and fetal skin samples were collected, and the genomic DNA was assayed by chromosomal microarray analysis (CMA). For 10 couples with recurrent spontaneous abortions but normal CMA results for abortive tissues, non-in vitro fertilization-embryo transfer (IVF-ET) pregnancies and no previous history of live births and no structural abnormalities of the uterus, peripheral venous blood samples were collected. Genomic DNA was subjected to trio-whole exome sequencing (trio-WES). Candidate variants were verified by Sanger sequencing and bioinformatics analysis. Multifactorial unconditional logistic regression analysis was carried out to analyze the factors that may affect chromosomal abnormality in spontaneous abortions, such as the age of the couple, number of previous spontaneous abortions, IVF-ET pregnancy and history of live birth. The incidence of chromosomal aneuploidies in spontaneous abortions during the first trimester was compared in young or advanced-aged patients by chi-square test for liner trend.@*RESULTS@#Among the 1 065 spontaneous abortion patients, 570 cases (53.5%) of chromosomal abnormalities were detected in spontaneous abortion tissues, which included 489 cases (45.9%) of chromosomal aneuploidies and 36 cases (3.4%) of pathogenic/likely pathogenic copy number variations (CNVs). Trio-WES results have revealed one homozygote variant and one compound heterozygote variants in two pedigrees, both of which were inherited from the parents. One likely pathogenic variant was detected in the patient from two pedigrees. Multifactorial unconditional Logistic regression analysis suggested that age of patient was an independent risk factor of chromosome abnormalities (OR = 1.122, 95%CI: 1.069-1.177, P < 0.001), the number of previous abortions and IVF-ET pregnancy were independent protective factors for chromosomal abnormalities (OR = 0.791, 0.648; 95%CI: 0.682-0.916, 0.500-0.840; P = 0.002, 0.001), whilst the age of husband and history of live birth were not (P > 0.05). The incidence of aneuploidies in the abortive tissues has decreased with the number of previous spontaneous abortions in young patients (χ² = 18.051, P < 0.001), but was not significantly correlated with the number of previous spontaneous abortions in advanced-aged patients with spontaneous abortions (P > 0.05).@*CONCLUSION@#Chromosomal aneuploidy is the main genetic factor for spontaneous abortion, though CNVs and genetic variants may also underlie its genetic etiology. The age of patients, number of previous abortions and IVF-ET pregnancy are closely associated with chromosome abnormalities in abortive tissues.

Follow-up of fetuses with de novo copy number variations of unknown significance detected by chromosomal microarray analysis / 中华医学遗传学杂志

OBJECTIVE@#To analyze the prognosis of fetuses identified with de novo variants of unknown significance (VOUS) by chromosome microarray analysis (CMA).@*METHODS@#A total of 6 826 fetuses who underwent prenatal CMA detection at the Prenatal Diagnosis Center of Drum Tower Hospital from July 2017 to December 2021 were selected as the study subjects. The results of prenatal diagnosis, and outcome of fetuses identified with VOUS of de novo origin were followed up.@*RESULTS@#Among the 6 826 fetuses, 506 have carried VOUS, of which 237 were detected for the parent-of-origin and 24 were found to be de novo. Among the latters, 20 were followed up for 4 to 24 months. Four couples had opted elective abortion, 4 had developed clinical phenotypes after birth, and 12 were normal.@*CONCLUSION@#Fetuses with VOUS should be continuously follow-up, in particular those carrying de novo VOUS, in order to clarify their clinical significance.

Practice of clinical application of noninvasive prenatal testing based on cell-free fetal DNA / 中华医学遗传学杂志

OBJECTIVE@#To assess the application value of noninvasive prenatal testing (NIPT) based on cell-free fetal DNA.@*METHODS@#The results of 2777 cases of basic and extended NIPT were retrospectively analyzed. The clinical data and outcome of pregnancy were analyzed, in addition with the diagnosis rate and testing efficiency.@*RESULTS@#Among the 2777 pregnant women, 1192 (42.9%) had accepted basic NIPT and 1585 (57.1%) accepted extended NIPT. With a failure rate of 0.1%, 8 and 6 cases were reported respectively as high-risk pregnancies for trisomy 21 and sex chromosomal abnormalities. Other genetic abnormalities were detected in 32 cases. The positive predictive value for trisomy 21 was 85.7%, and one case of 47,XXX was diagnosed among 3 women with high risks for sex chromosomal abnormalities. For those with a high risk for other genetic abnormalities, pregnant diagnosis rates of basic and extended NIPT were 71.4% (5/7) and 68.2% (15/22), respectively. Seven copy number variations (CNVs) were confirmed, including one pathogenic CNV, one likely pathogenic CNV and 5 variants of unknown significance. Among 6 cases with high-risk of maternal CNVs, 5 fetuses and the mothers were confirmed to be carriers. No CNV was detected in the remainder fetus by chromosomal microarray analysis, while its mother was a carrier of the corresponding CNV.@*CONCLUSION@#NIPT has shown a relatively high positive predictive value for the screening of trisomy 21 and maternal CNVs but with a limited efficiency for the discovery of fetal CNVs. For other genetic abnormalities signaled by NIPT, informed choice by the pregnant women during pre-testing consultation is recommended. Invasive prenatal diagnosis should be considered in the combination of NIPT reports and fetal ultrasound, while the residual risks should be fully informed.

Chromosomal microarray analysis in prenatal diagnosis of women with isolated adverse pregnancy history / 中华围产医学杂志

Objective:To investigate the abnormal results of chromosomal microarray analysis (CMA) in the subsequent pregnancy of women with adverse pregnancy history, and explore the applicability of CMA in women with different genetic etiology.Methods:Out of 5 563 pregnant women who received CMA test in Nanjing Drum Tower Hospital during June 2014 and July 2020, 169 cases that underwent prenatal diagnosis due to isolated adverse pregnancy history were retrospectively collected in this study. All the participants were divided into three groups based on the etiology type of probands, genetic origin and expected CMA outcome: high-risk group ( n=19, including 11 cases with inherited pathogenic copy number variations and eight cases with inherited chromosomal abnormalities), low-risk group ( n=113, including six cases with negative whole exome sequencing and/or CMA findings, 31 cases with confirmed monogenic disease, 47 cases with de novo pathogenic copy number variations and 29 cases with de novo chromosomal abnormalities), and unknown risk group ( n=40, none of the cases underwent genetic testing). Descriptive statistical analysis was used to summarize the abnormal detection of each group. Results:There were 169 mothers with 172 fetuses finally enrolled, including two twins and one woman with two singleton pregnancies. A total of nine cases of abnormal fetuses were detected by CMA, accounting for 5.2% (9/172). Among them, eight were in the high-risk group, which were all caused by parental abnormalities, and one case in the low-risk group was detected with a de novo 22q11.22q11.23 microduplication, which was arr[GRCh37]22q11.22q11.23(22,997,928-25,002,659)×3. No abnormality was detected in the 40 patients of unknown risk group. Conclusions:Clarifying the etiology of isolated adverse pregnancy history is crucial to the rational application of CMA. Monogenic disease, unknown cause or negative finding of CMA in probands may not be an indication for prenatal diagnosis of CMA.

Genetic analysis and prenatal diagnosis of a pedigree with oculo-facio-cardio-dental syndrome: a case report and literature review / 中华围产医学杂志

Objective:To analyze the clinical phenotypes and prenatal diagnosis of a pedigree with oculo-facio-cardio-dental (OFCD) syndrome.Methods:A pregnant woman at 17 gestational weeks was admitted to the Nanjing Drum Tower Hospital, the Affiliated Hospital of Nanjing University Medical School in 2017 for genetic counseling. Genetic tests as performed for the proband (the pregnant woman), her husband, and the induced fetus of last pregnancy genetic test and the detected variants were analyzed and verified by chromosomal microarray analysis (CMA), multiplex ligation-dependent probe amplification (MLPA) and quantitative real time-polymerase chain reaction (Q-PCR). The detection platform established by MLPA and Q-PCR technology was used to perform prenatal diagnosis of the present pregnancy. Other family members were screened for BCOR gene mutation. Related mutation types were retrieved from ClinVar database with term of " BCOR", and related literature from CNKI and PubMed with terms of "OFCD syndrome", " BCOR gene", and "oculo facio cardiac dental syndrome" to summarize the clinical manifestations, mutation type and pathogenesis of this disease. Results:The proband has congenital cataracts, long face, congenital atrial septal defect, and severe dental malformations, which were consistent with the clinical features of OFCD syndrome. WES suggested that the proband and her induced fetus were suspected of having a large submicroscopic deletion of the exons of BCOR gene, which was confirmed by CMA, MLPA and Q-PCR, with a 105 kb deletion containing BCOR exons 1-15. The amniotic fluid genetic analysis of the present pregnancy showed that the fetus has a normal female karyotype, and did not carry the same BCOR gene copy number abnormality as the proband. The child grew and normally developed without any characteristic manifestations of OFCD syndrome during follow-up. Other families of the proband did not show clinical features of OFCD syndrone, and no BCOR gene copy number abnormality was detected. A total of 35 cases of BCOR gene mutation types related to OFCD syndrome were retrieved from ClinVar database. The data analysis revealed that the differences in clinical manifestations between Lenz microphthalmos syndrome and OFCD syndrome were mainly caused by different mutation types of BCOR gene. Among the 90 retrieved cases of OFCD syndrome obtained through literature, only one case was reported in China. Analysis of these 90 cases showed that the characteristic manifestations of OFCD syndrome, involving the eye, face, heart, teeth, and skeletal system. OFCD syndrome were confirmed in the proband and her induced fetus according to the clinical manifestation and the mutation type of BCOR gene. Conclusions:The clinical manifestations of OFCD syndrome are complicated, caused by various mutation types of BCOR. Systematic molecular genetic technology can be effectively applied for gene and prenatal diagnosis of OFCD syndrome.

Effect of multidisciplinary cooperation model on perioperative nursing of chronic ulcer of diabetes mellitus patients following lower extremity trauma / 中华创伤杂志

Objective:To explore the effect of multidisciplinary collaboration（MDT）mode on perioperative nursing of chronic ulcer of diabetes mellitus patients following lower extremity trauma.Methods:A retrospective case-control study was conducted to analyze the clinical data of 122 diabetes mellitus patients combined with chronic ulcer following lower extremity trauma admitted to Sir Run Run Shaw Hospital affiliated to Zhejiang University School of Medicine from January 2015 to December 2019. There were 58 males and 64 females at age of 40-76 years［（56.0 ± 4.7）years］. The wounds were located at the heel in 10 patients，at the lateral ankle in 12，at the toe in 22，at the calf in 59 and at the thigh in 19. Sixty patients received MDT care（collaborative care group），and 62 patients received traditional care（traditional care group）. Visual analogue scale（VAS）and level of fasting plasma glucose were measured at days 1 and 3 postoperatively and on the day of discharge. Mental status of the patients was evaluated using self-evaluation of anxiety scale（SAS）and self-rating depression scale（SDS）after nursing. Area and depth of wounds was detected at postoperative 2 weeks and 1 month，and level of fasting glucose was measured again within 1 month after operation. The rate of amputation，incidence of debridement and direct suture rate were documented while hospitalized again at postoperative 1 month.Results:All patients were followed up for 0.5-3 months［（1.2 ± 0.7）months］. VAS was 1.0（1.0，2.0）points，1.0（0.0，1.0）points and 1.0（0.0，1.0）points in collaborative care group at days 1 and 3 postoperatively and on the day of discharge，compared to 2.0（2.0，2.3）points，2.0（2.0，2.0）points and 1.0（1.0，2.0）points in traditional care group（ P < 0.05）. Level of fasting blood glucose was（7.2 ± 0.8）mmol/L，（6.9 ± 0.8）mmol/L and（6.9 ± 0.7）mmol/L in collaborative care group on days 1 and 3 postoperatively and on the day of discharge，compared to（7.8 ± 0.8）mmol/L，（7.8 ± 0.8）mmol/L and（7.7 ± 0.9）mmol/L in traditional care group（ P < 0.05）. Scores of SAS and SDS were（8.4 ± 0.8）points and（11.2 ± 1.0）points in collaborative care group after nursing，compared to（8.7 ± 0.7）points and（12.3 ± 1.0）points in traditional care group（ P < 0.05）. Area and depth of wounds were（29.4 ± 3.9）cm 2 and（1.4 ± 0.4）cm in collaborative care group at postoprative 2 weeks，compared to（33.3 ± 3.6）cm 2 and（1.5 ± 0.5）cm in traditional care group（ P < 0.05）. Area and depth of wounds were（24.5 ± 3.8）cm 2 and（0.9 ± 0.4）cm in collaborative care group at postoprative 1 month，compared to（30.6 ± 4.8）cm 2 and（1.2 ± 0.5）cm in traditional care group（ P < 0.05）. Level of fasting blood glucose in collaborative care group was significantly lower than that in traditional care group at postoprative 1 month（ P < 0.05）. During hospital re-admission 1 month after operation，rate of amputation and incidence of re-debridement were 5%（3/60）and 7%（4/60）in collaborative care group，significantly lower than those in traditional care group［18%（11/62），22%（13/62）］（ P < 0.05），and direct repair suture rate was 88%（53/60）in collaborative care group，significantly higher than that in traditional care group［61%（38/62）］（ P < 0.05）. Conclusion:For chronic ulcer of diabetes mellitus patients following lower extremity trauma，MDT model is superior over traditional nursing for alleviated pain，controlled blood glucose，improved psychological state，promoted wound healing and reduced rate of amputation and incidence of re-debridement.

Analysis of related phenotype of prenatal cases with copy number variations in various region of 22q11.2 / 中华医学遗传学杂志

OBJECTIVE@#To analyze the prenatal ultrasound phenotypes of copy number variations (CNVs) in different regions of 22q11.2, their parental original, and pregnancy outcome.@*METHODS@#Prenatal phenotypes of 25 cases with CNVs of the 22q11.2 region detected by chromosomal microarray analysis (CMA) was reviewed, which including There were 13 deletions and 12 duplications. Multiplex ligation-dependent probe amplification(MLPA) was carried out to determine their parental origin. All cases were followed up for their pregnancy outcome and postnatal growth.@*RESULTS@#Among the 25 cases, the ultrasound phenotypes of those involving the TBX1 gene were mostly cardiovascular system abnormalities, the ultrasound phenotypes of cases involving CRKL gene are mostly polycystic renal dysplasia. The ultrasound phenotypes of CNVs in the distal region (involving the SMARCB1 gene) are nervous system abnormalities. 12 cases (48%) of CNVs were de novo in origin. Five cases were lost during follow-up,12 had opted to terminate the pregnancy, 8 fetuses were born,7 with normal growth and development, 1 case with CNV in A-D region was abnormal.Prenatal ultrasound showed abnormalities in the cardiovascular system consistent with postnatal ultrasound, in addition with dysphagia and growth retardation.@*CONCLUSION@#Prenatal phenotypes of the 22q11.2 region CNVs are diverse, which may be related to gene function. NT thickening may be used as an early ultrasound finding of proximal 22q11.2 CNV. More research is still required to delineate the nature of CNVs and gene function, so as to facilitate genetic counseling.

Application of chromosomal microarray analysis in prenatal diagnosis of fetuses with increased nuchal translucency / 中华医学遗传学杂志

OBJECTIVE@#To determine the frequency of chromosomal abnormalities and outcome of pregnancy for fetuses with increased nuchal translucency (NT).@*METHODS@#Between July 2014 and February 2018, 247 fetuses with increased NT (>95th centile)were analyzed by chromosome microarray analysis (CMA). The fetuses were divided into ones with isolated increased NT (168 cases), increased NT with cystic hygroma (20 cases), increased NT with edema (12 cases) or increased NT with other abnormalities (47 cases). All couples were followed up by telephone calls.@*RESULTS@#The rate of chromosomal abnormalities was 31.6% (78/247), which included 66 cases with chromosomal aneuploidies and 12 with copy number variants (CNVs). CNVs accounted for 31.4% (11/35) of total abnormalities among fetuses with isolated increased NT, whilst only 2.3% (1/43) of the total abnormalities among fetuses with non-isolated increased NT. Three fetuses with a normal CMA result had mental and physical retardation. Two of them were diagnosed with single gene disorders by whole exome sequencing.@*CONCLUSION@#CMA can detect more chromosomal microdeletion/microduplications among fetuses with isolated increased NT. Furthermore, fetuses with increased NT and anegative CMA result during pregnancy cannot exclude all adverse outcomes.

Genetic study of a pedigree affected with oculodentodigital dysplasia / 中华医学遗传学杂志

Objective@#To explore the genetic basis of a pedigree affected with oculodentodigital dysplasia.@*Methods@#Genomic DNA was extracted from peripheral blood or amniotic fluid samples derived from the pedigree. Exon 2 of the GJA1 gene was amplified for sequencing.@*Results@#Two pedigree members were found to carry heterozygous missense variation of the GJA1 gene, c. 221A>C (p.H74P).@*Conclusion@#The missense c. 221A>C variation of the GJA1 gene probably underlies the oculodentodigital dysplasia in this pedigree.

Application of chromosomal microarray analysis in prenatal diagnosis of fetuses with increased nuchal translucency / 中华医学遗传学杂志

Objective@#To determine the frequency of chromosomal abnormalities and outcome of pregnancy for fetuses with increased nuchal translucency (NT).@*Methods@#Between July 2014 and February 2018, 247 fetuses with increased NT (>95th centile)were analyzed by chromosome microarray analysis (CMA). The fetuses were divided into ones with isolated increased NT(168 cases), increased NT with cystic hygroma(20 cases), increased NT with edema(12 cases) or increased NT with other abnormalities(47 cases). All couples were followed up by telephone calls.@*Results@#The rate of chromosomal abnormalities was 31.6% (78/247), which included 66 cases with chromosomal aneuploidies and 12 with copy number variants(CNVs). CNVs accounted for 31.4% (11/35) of total abnormalities among fetuses with isolated increased NT, whilst only 2.3% (1/43)of the total abnormalities among fetuses with non-isolated increased NT. Three fetuses with a normal CMA result had mental and physical retardation. Two of them were diagnosed with single gene disorders by whole exome sequencing.@*Conclusion@#CMA can detect more chromosomal microdeletion/microduplications among fetuses with isolated increased NT. Furthermore, fetuses with increased NT and anegative CMA result during pregnancy cannot exclude all adverse outcomes.

Genetic study of a pedigree affected with oculodentodigital dysplasia / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis of a pedigree affected with oculodentodigital dysplasia.@*METHODS@#Genomic DNA was extracted from peripheral blood or amniotic fluid samples derived from the pedigree. Exon 2 of the GJA1 gene was amplified for sequencing.@*RESULTS@#Two pedigree members were found to carry heterozygous missense variation of the GJA1 gene, c.221A>C (p.H74P).@*CONCLUSION@#The missense c.221A>C variation of the GJA1 gene probably underlies the oculodentodigital dysplasia in this pedigree.

Chromosomal microarray analysis of 85 fetus with growth restriction / 中华围产医学杂志

Objective To investigate the clinical value of chromosomal microarray analysis (CMA) in identifying the genetic etiology of fetal growth restriction (FGR).Methods Eighty-five FGR cases were recruited from Nanjing Drum Tower Hospital,the Affiliated Hospital of Nanjing University Medical School from January 2014 to October 2016.Samples ofamniotic fluid (n=74),skin tissues from aborted fetuses (n=9),umbilical cord blood (n=1) and peripheral blood from a premature infant (n=1) were collected.Affymetrix CytoScan 750K Array was used to detect copy number variation (CNV) in fetal samples.Microarray analysis.or fluorescence quantitative polymerase chain reaction was further recommended for the parents if fetal CMA result was variants of unknown significance (VOUS).Karyotype analysis of umbilical cord blood was further recommended if fetal CMA result was chromosome mosaicism.Chromosome analysis of peripheral blood was further recommended for the parents if fetal CMA result of a fetus was submicroscopic CNVs.Adjusted Chi-square test was used as the statistical method.Results CMA was successful in all samples in identifying chromosomal abnormalities.Among the 36 isolated FGR cases (42.4％,36/85),CMA identified in four cases of chromosome imbalance recombination and four cases of VOUS,and the rest 28 cases were normal.Besides,no CNV was detected.Among the other 49 FGR cases (57.6％,49/85) with ultrasound abnormalities,there were five cases of VOUS,and five cases of chromosome imbalance recombination and nine cases of CNVs.No significance difference in the detection rate of chromosome imbalance recombination was observed between the isolated and non-isolated FGR groups [11％ (4/36) vs 10％ (5/49),adjusted x2=0.000,P＞0.999].Parents of six cases of VOUS were further examined and the same variants was found in either one.One case of sex chromosome mosaicism was validated by cord blood karyotyping.One case of chromosome imbalance recombination was due to the paternal balanced translocation.Conclusions CMA is helpful in detecting the chromosome imbalance recombination in FGR cases.

The best time to remeasure temperature after cooling：an evidence-based practice / 中国实用护理杂志

Objective To find the best time to remeasure temperature after cooling with evidence-based practice. Methods Used Johns Hopkins′ Evidence Based Practice Tool to find the best time to remeasure temperature after cooling. That tool included three steps which were establish problem, evidence synthesis and transfer evaluation. Results The best time to remeasure temperature after physical cooling was 30 minutes. The best time to remeasure temperature after drug cooling was 60 minutes. The best time to remeasure temperature after physical and drug combination cooling was 30 minutes after physical cooling and 60 minutes after using drug. Conclusion The best time to remeasure temperature after cooling was different because of the different cooling methods.

Phenotypic and genetic analysis of a child with blepharophimosis, ptosis, epicanthus inverses syndrome and tetralogy of Fallot / 中华医学遗传学杂志

OBJECTIVE To determine the genetic cause of a child with blepharophimosis, ptosis, and epicanthus inverses syndrome and tetralogy of Fallot, and to correlate the phenotype with the genotype. METHODS Routine G-banding has been previously performed on the patient and her parents. Chromosome microarray analysis (CMA) was performed for the three individuals and the fetus. RESULTS Chromosomal analysis has suggested normal karyotypes for the child and her parents. However, a de novo 8.9 Mb deletion on chromosome 3q22.1-q23 was detected by CMA. The deleted region has encompassed 74 genes including 41 disease-related genes, and this is also the most frequent region involved in interstitial 3q deletion. Patients with deletion of this region often have a common feature of dysplasia of eyelids, as well as a spectrum of other anomalies according to different breakpoints, including microcephaly, skeletal anomalies, congenital heart defects, cranial anomalies, intellectual disability and developmental delay. The patient's phenotype was in accordance with such spectrum. Her parents and sib did not show this variation by CMA. CONCLUSION The de novo interstitial deletion of 3q22.1-q23 probably underlies the main clinical manifestation in this child. CMA can provide more detailed information and allow further investigation of the genotype-phenotype correlation.

Analysis of naphtha in Semen Persicae,Flos carthami and its couplet medicines by GC-MS / 中成药

AIM: To discuss the GC analysis of naphtha of Semen Persicae,Flos carthami and its couplet medicine(Semen Persicae plus Flos carthami). METHODS: To determine the relative content of naphtha by vapour distill,Gas Chromatography-Mass Spectrometry and Chemometric Resolution Method and GC unitary area method. RESULTS: The obtained naphtha of Flos carthami consisted of 54 constitutes such as dodecanoic acid and n-Hexadecanoic acid.The obtained naphtha of Semen Persicas comprised 6 constitutes such as benzaldehyde.And the obtained naphtha of Semen Persicae plus Flos carthami possessed 40 coustitutes,such as dodecanoic acid,n-Hexadecanoic acid and benzaldehyde. CONCLUSION: The constitutes Semen Persicae plus Flos carthami are basical the linear addition of constitutes Semen Persicae and Flos carthami but 21 kinds of constitutes in the absence of both Semen Persicae and Flos carthami.