Autism with dysphasia accompanied by mental retardation caused by FOXP1 exon deletion:A case report

BACKGROUND Forkhead box protein 1(FOXP1)(OMIM:605515)at chromosomal region 3p14.1 plays an important regulatory role in cell development and functions by regulating genetic expression.Earlier studies have suggested that FOXP1,an oncogene,is capable of initiating tumorigenicity depending on the cell type.FOXP1 also plays an important role in regulating the cell development and functions of the immune system,e.g.,regulating B-cell maturation and mononuclear phagocyte differentiation,and in the occurrence and development of various immune diseases.The mRNA of this gene is widely expressed in humans,and its differential expression is related to numerous diseases.CASE SUMMARY A 5-year-old boy mainly presented with attention deficit and hyperactivity disorder and developmental retardation accompanied by gait instability and abnormal facial features(low-set ears).DNA samples were extracted from the child’s and his parents’peripheral blood to detect whole-exome sequences and whole-genome copy number variations.Results revealed heterozygous deletions of exon 6-21 of FOXP1 gene in the child.Physical examination upon admission showed that the child was generally in good condition,had a moderate nutritional status,a slightly slow response to external stimuli,equally large and equally round bilateral pupils,was sensitive to light reflection,and had poor eye contact and joint attention.He had no meaningful utterance and could not pronounce words properly.He was able to use gestures to simply express his thoughts,to perform simple actions,and to listen to instructions.He had no rash,cafe-au-lait macules,or depigmentation spots.He had thick black hair and low-set ears.He had highly sensitive skin,especially on his face and palms.He had no abnormal palm fingerprint.Cardiopulmonary and abdominal examinations revealed no abnormalities.He had normal limb muscle strength and tension.He showed normal tendon reflexes of both knees.His bilateral Babinski and meningeal irritation signs were negative.He had a normal male vulva.CONCLUSION We report the characteristic features of autism with dysphasia accompanied by mental retardation caused by FOXP1 exon deletion.This study provides a molecular basis for etiological diagnosis and treatment of the child,as well as for genetic counseling for the pedigree.

Autism and Mental Retardation of Young Children in China

To understand the prevalence and rehabilitation status of autism and mental retardation in China. Methods Screening test and clinical assessment were conducted for the diagnosis of autism and mental retardation. The assessment included investigation of the histories of medical conditions and development of these two disorders, utilization and needs for the rehabilitation service, and related intellectual and behavioral appraisal. Results Among the 7345 children investigated, the prevalence of autism disorder was 1.10 cases per 1000 children aged 2-6 years （95% CI=0.34 to 2.54）, and the prevalence of mental retardation was 10.76 cases per 1000 children （95% CI=8.40 to 13.12）. All the children suffering from autistic disorder were intellectually disabled, whereas 31.0% of the non-autism mental retardates had other disabilities. The medical conditions prior to birth and perinatal period were important potential factors for autism. Half of the autistic children and 84% of the children with non-autism mental retardation had never received any rehabilitative service. Conclusions The prevalence of autistic disorder in children aged 2-6 years in Tianjin is rather high. It is urgent to improve the status of the autistic and intelligently disabled young children in China. In order to upgrade the level of early diagnostic and improve the intervention to autism and mental retardation, public awareness and training courses should be heightened.

Correlating fine motor function to cognitive competence in children with mental retardation An analysis of 42 cases

BACKGROUND： In clinical practice, the degree of cognitive competence damage correlates to fine motor function deficits in children with psychomotor development retardation. Clear correlations between the two can help to develop and perform corresponding functional training for children with mental retardation （MR）. OBJECTIVE： This study was designed to evaluate and analyze the correlation of fine motor function to cognitive competence in MR children using the Peabody Developmental Motor Scale-Fine Motor （PDMS-FM） and Symbolic Play Test. DESIGN： Scale evaluation and correlation analysis. SETTING： Children＇s Rehabilitation Center ＆ Huajing District Hospital, Children＇s Hospital Affiliated to Fudan University. PARTICIPANTS： A total of 42 MR children, 28 males and 14 females, aged 14-69 months, were admitted to the Rehabilitation Center, Children＇s Hospital, Fudan University between June 2003 and April 2006, and were recruited for this study. All children corresponded to MR diagnosis criteria determined by Chinese Neurology and Psychiatry Society in 1989. Written informed consent for participating in the evaluation and for evaluated content was obtained from each child＇s guardian. METHODS： Subsequent to admission and prior to treatment, fine motor function of each MR child was evaluated using PDMS-FM （Chinese version）. The scale captured 98 items that formed the grasping （Gr） and visual-motor integration （Vi） subtests. Cognitive competence was evaluated using the Symbolic Play Test （Chinese version）, which captured four 6-item specific contents. The original score of each subtest was used to evaluate results for statistical analysis. Higher scores from the two evaluations indicated stronger abilities. Pearson correlation analysis was applied for analyzing data correlation. MAIN OUTCOME MEASURES： Fine motor function was evaluated using PDMS-FM. Cognitive competence was measured using the Symbolic Play Test. Correlations between results from the two evaluations were analyzed. RESULTS： All 42 MR children were included in the final analysis. Correlation analysis results demonstrated significant positive correlations of original scores existed between Gr and Vi subtests in the PDMS-FM （r = 0.761, P 〈 0.01）, and between Vi and Gr subtests in PDMS-FM and Symbolic Play Test （r = 0.663, 0.450, P 〈 0.01）. CONCLUSION： Fine motor function closely correlates to cognitive competence in MR children. This indicates fine motor function training should be developed in combination with cognitive competence training.

Molecular Genetic Analysis of Partial 9p Trisomy in Two Chinese Families with Mental Retardation and Facial Anomaly

Mental retardation is defined by significant limitations in intellectual function and adaptive behavior that occur before 18 years of age.Many chromosomal diseases come with mental retardation.We reported two Chinese families with partial trisomy 9p and other chromosome partial monosomy,clinical features of mental retardation and mild facial and pinkie anomalies.In the family 1,we showed that the proband carried a trisomy 9p21.3→pter and monosomy 21q22.3→qter by using fluorescence in situ hybridization analysis.Molecular genetic analysis defined the precise breakpoint on chromosome 9p between markers D9S1846 and D9S171,an interval of about 2.9 Mb on 9p21.3,and the breakpoint on chromosome 21q between markers D21S1897 and D21S1446,a region of about 1.5 Mb on 21q22.3.In the family 2,a patient with trisomy 9p21.3→pter and monosomy 5p15.33→pter,and a de novo maternal balanced translocation between chromosomes 5 and 9 was identified in his mother.Cytogenetic and molecular genetic analysis defined the precise breakpoints on chromosome 9p21.3 and chromosome 5p15.33.Further clinical investigation found that any individual had no refractoriness eczema disease except the proband in this family.These results further implicate that trisomy 9p is associated with mental retardation,and that there may be key gene duplication on chromosome 9p21.3→9pter responsible for mental retardation and mild facial anomaly.This result has been applied successfully in prenatal diagnosis of the second family.

Primed In Situ Labeling Technique for Subtelomeric Rearrangements in 70 Children with Idiopathic Mental Retardation

Subtelomeric rearrangements contribute to idiopathic mental retardation （MR）, but most children with idiopathic MR do not show any chromosome abnormalities with standard cytogenetic analysis. The primed in situ labeling （PRINS） technique, using an oligonucleotide primer complementary to the telemetric repeat sequences （TTAGGG）, can identify chromosome telomeric abnormality （deletion） in idiopathic MR children. In this study, seventy children with idiopathic MR were enrolled and subjected to PR1NS. The results showed normal karyotype in all the children, subtelomeric rearrangements （lq del and 4q del） in 2 cases, which was confirmed by fluorescence in situ hybridization （FISH）. It was concluded that PRINS is effective for the detection of subtelomeric rearrangements and may become a routine technique for cytogenetical abnormality screening.

SUMOylation of Fragile X Mental Retardation Protein: A Critical Mechanism of FMRP-Mediated Neuronal Function

Recently, Khayachi et al.;showed that fragile X mental retardation protein （FMRP） is an active substrate of the small ubiquitin-like modifier （SUMO） pathway in neurons.FMRP SUMOylation is induced by the activation of metabotropic glutamate receptors （mGlu5Rs）. FMRP

Analysis of the Fragile X Mental Retardation 1 Premutation in Han Chinese Women Presenting with Primary Ovarian Insufficiency

Background: The aim of this study is to investigate the prevalence of the fragile X mental retardation 1(FMR1) gene premutation in Han Chinese women with primary ovarian insufficiency(POI) using a rapid and cost-effective method. Methods: A total of 153 Han Chinese women with sporadic POI were systematically analyzed for trinucleotide repeats within the FMR1 gene. We employed an improved strategy to screen for cytosine-guanine-guanine repeats in the 5’ untranslated region of the FMR1 gene. Before using the previously reported Fragil Ease polymerase chain reaction(PCR) method for premutation identification, we developed a new cost-effective PCR-based method to exclude most of the normal allele carriers during the initial screening stage. Results: In our initial screening, 62.1% of women with POI were found to carry heterozygous normal alleles of FMR1, which were recognized by our sensitive and cost-effective method. The remaining women were further screened for the presence of the FMR1 premutation. We identified a Han Chinese woman with a premutation allele of FMR1 out of 153 sporadic POI women(0.7%). Conclusions: The frequent FMR1 premutation in Caucasian individuals with POI may not be a common genetic cause of sporadic POI in the Han Chinese population.

High-grade serous carcinoma of the fallopian tube in a young woman with chromosomal 4q abnormality:A case report

BACKGROUND Few studies have reported an association between an increased risk of acquiring cancers and survival in patients with 4q deletion syndrome.This study presents a rare association between chromosome 4q abnormalities and fallopian tube highgrade serous carcinoma(HGSC)in a young woman.CASE SUMMARY A 35-year-old woman presented with acute dull abdominal pain and a known chromosomal abnormality involving 4q13.3 duplication and 4q23q24 deletion.Upon arrival at the emergency room,her abdomen appeared ovoid and distended with palpable shifting dullness.Ascites were identified through abdominal ultrasound,and computed tomography revealed an omentum cake and an enlarged bilateral adnexa.Blood tests showed elevated CA-125 levels.Paracentesis was conducted,and immunohistochemistry indicated that the cancer cells favored an ovarian origin,making us suspect ovarian cancer.The patient underwent debulking surgery,which led to a diagnosis of stage IIIC HGSC of the fallopian tube.Subsequently,the patient received adjuvant chemotherapy with carboplatin and paclitaxel,resulting in stable current condition.CONCLUSION This study demonstrates a rare correlation between a chromosome 4q abnormality and HGSC.UBE2D3 may affect crucial cancer-related pathways,including P53,BRCA,cyclin D,and tyrosine kinase receptors,thereby possibly contributing to cancer development.In addition,ADH1 and DDIT4 may be potential influencers of both carcinogenic and therapeutic responses.

Missense mutation in DYNC1H1 gene caused psychomotor developmental delay and muscle weakness:A case report

BACKGROUND The DYNC1H1 gene encodes a part of the dynamic protein,and the protein mutations may further affect the growth and development of neurons,resulting in degeneration of anterior horn cells of the spinal cord,and a variety of clinical phenotypes finally resulting in axonal Charcot-Marie-Tooth disease type 20(CMT20),mental retardation 13(MRD13)and spinal muscular atrophy with lower extremity predominant 1(SMA-LED).The incidence of the disease is low,and it is difficult to diagnose,especially in children.Here,we report a case of DYNC1H1 gene mutation and review the related literature to improve the pediatrician’s understanding of DYNC1H1 gene-related disease to make an early correct diagnosis and provide better services for children.CASE SUMMARY A 4-mo-old Chinese female child with adducted thumbs,high arch feet,and epileptic seizure presented slow response,delayed development,and low limb muscle strength.Electroencephalogram showed abnormal waves,a large number of multifocal sharp waves,sharp slow waves,and multiple spasms with a series of attacks.High-throughput sequencing and Sanger sequencing identified a heterozygous mutation,c.5885 G>A(p.R1962H),in the DYNC1H1 gene(NM 001376)of the proband,which was not identified in her parents.Combined with the clinical manifestations and pedigree of this family,this mutation is likely pathogenic based on the American Academy of Medical Genetics and Genomics guidelines.The child was followed when she was 1 year and 2 mo old.The magnetic resonance imaging result was consistent with the findings of white matter myelinated dysplasia and congenital giant gyrus.The extensive neurogenic damage to the extremities was considered,as the results of electromyography showed that the motor conduction velocity and sensory conduction of the nerves of the extremities were not abnormal,and the degree of fit of the children with severe contraction was poor.At present,the child is 80 cm in length and 9 kg in weight,with slender limbs and low muscle strength,and still does not raise her head.She cannot sit or speak.Speech,motor,and mental development was significantly delayed.There is still no effective treatment for this disease.CONCLUSION We herein report a de novo variant of DYNC1H1 gene,c.5885 G>A(p.R1962H),leading to overlapping phenotypes(seizure,general growth retardation,and muscle weakness)of CMT20,MRD13,and SMA-LED,but there is no effective treatment for such condition.Our case enriches the DYNC1H1 gene mutation spectrum and provides an important basis for clinical diagnosis and treatment and genetic counseling.

On the Lawful Rights and Interests of Mentally Retarded Children——A case study of a rehabilitation center in Liaoning Province

Mentally retarded children are the most disadvan- taged among disabled children. Since the reform and opening up, with sup- port from the Communist Party of China, the government and the public, the legitimate rights and interests of mentally retarded children have greatly improved. But problems in this respect remain serious, and vari- ous levels of government, relevant departments and the public should attach much importance to these problems. This paper, taking a reha- bilitation center in Liaoning Province for mentally retarded children as a single case, studies the protection of these children＇s lawful rights and in- terests in a systematic manner.

Neonatal isovaleric acidemia in China: A case report and review of literature

BACKGROUND Isovaleric acidemia(IVA)is a rare autosomal recessive inherited organic acidemia caused by a genetic deficiency of isovaleryl-CoA dehydrogenase(IVD).Its morbidity is low,but mortality is high.There is no effective cure for this disease.Early identification of IVA using clinical features can significantly slow disease progression and reduce mortality.Here we report a Chinese neonate with two mutations of IVD and share valuable information on this disease.CASE SUMMARY A 12-day-old male neonate with“poor response for 1 d and repeated convulsions accompanied by high muscle tension for 6 h”was hospitalized.The patient was the first child of nonconsanguineous ethnic Chinese parents.He was delivered by cesarean section due to breech position at 39+1 wk of gestation with a birth weight of 3.27 kg.Initially,he suffered from dyspnea and rhinobyon,and at 10 d after birth the patient suddenly developed poor feeding,low response,lethargy and seizures.Organic acid analysis of blood and urine by tandem mass spectrometry and gas chromatography mass spectrometry showed extremely high concentrations of isovaleryl glycine.The patient had an acute episode of IVA causing severe metabolic stress and eventually died.CONCLUSION A new case of an IVA patient carrying c.1193G>A(p.Arg398Gln)and c.1208A>G(p.Try403Cys)mutations is reported in China.

Novel variant syndrome associated with congenital hepatic fibrosis

Congenital hepatic fibrosis is part of many different malformation syndromes, of which oculo-encephalohepato-renal syndrome is the most common. These syndromes largely overlap, and so accurate classification of individual patients may be difficult. We present herein three syndromic siblings who were products of a consanguineous marriage. We investigated in detail at least six organ systems in these patients, namely the liver, brain, eye, kidneys, skeleton, and gonads. The common features observed in these three cases were congenital hepatic fibrosis, retinitis pigmentosa, truncal obesity, rotatory nystagmus, mental retardation, advanced myopia, and high-arched palate. The clinical dysmorphology in these patients was distinct and lacked the major features of the known syndromes associated with congenital hepatic fibrosis. Although some features of these presented cases are similar to those found in Bardet-Biedl syndrome(BBS), the absence of some major criteria of BBS(polydactyly, renal abnormality, and hypogonadism) suggests that this may be a new syndrome. All three patients remain under follow-up in the departments of Gastroenterology, Ophthalmology, and Neurology at Hacettepe University.

Quantitative and qualitative comparison of neonatal screening plan for the identification of hypothyroid neonates between Nahavand and Kashmar cities in 2016–2017 (respectively in the west and east of Iran)

Background: Congenital hypothyroidism is the result of a reduction in thyroid hormone production or a decrease in the activity of thyroid hormone receptors and is one of the most preventable causes of mental retardation, deafness, and heart problems in the world. This study aimed to compare the prevalence of congenital hypothyroidism between Nahavand in the west of Iran and Kashmar in the east of Iran during the years 2016 2017. Methods: This is a cross-sectional descriptive study on neonates born in April 2016 to March 2018 in two cities of Nahavand and Kashmar. A few drops of blood from a baby's heel in 3 5 birthdays on a special filter paper (S & S903) became blood samples from the pelvic floor were filtered and dried. The valuation of the samples was performed by the enzyme linked immunosorbent assay method by evaluating the thyroid stimulating hormone. Premature infants, underweight (less than 2,500 grams), a weight of over 4 kg, multiple births, or newborns requiring blood transfusions or any newborn needed to be retaken to the test after two weeks. Results: In the city of Nahavand, the incidence of neonatal hypothyroidism in the years 2016 and 2017 were 6.7 and 9.09 per 1,000 live births. And for the city of Kashmar, this number increased to 5.6 and 4.3 per 1,000 births in 2016 and 2017, respectively. The mean rate of participation in the screening program in the first 3 5 days of birth in Nahavand during two years was 2016 and 2017 to 78.7% and in Kashmar about 94%, which indicates the higher participation of Kashmar. In the city of Nahavand, 64.6% of cases of hypothyroidism reported in boys' neonates and 51.5% of male children in the Kashmar city. Conclusion: The results of our survey indicates that the prevalence of hypothyroidism is high in both Kashmar in eastern Iran and Nahavand in western Iran. Especially in Nahavand city of western Iran, where the prevalence of hypothyroidism is higher than global and internal statistics. Further surveys are required to elucidate the role of iodine deficiency and family marriage in the hereafter.

Mao Yuyan Brings New Fortune to Mentally Retarded Children

BEIJING Fortune Training School for Mentally Retarded Children aims at developing the abilities and independence of mentally disabled children. Located at Fourth Ring Road in Chaoyang District, northeast Beijing, the school provides good housing and firstrate teaching facilities for 60 mentally retarded children aged 3 to 10. With a staff of 18, the school finally settled here in 1996 with the assistance of the Beijing municipal government and Chaoyang District government, and funds contributed by organizations in

Deep Learning‑Assisted Quantitative Susceptibility Mapping as a Tool for Grading and Molecular Subtyping of Gliomas

This study aimed to explore the value of deep learning(DL)-assisted quantitative susceptibility mapping(QSM)in glioma grading and molecular subtyping.Forty-two patients with gliomas,who underwent preoperative T2 fluid-attenuated inversion recovery(T2 FLAIR),contrast-enhanced T1-weighted imaging(T1WI+C),and QSM scanning at 3.0T magnetic resonance imaging(MRI)were included in this study.Histopathology and immunohistochemistry staining were used to determine glioma grades,and isocitrate dehydrogenase(IDH)1 and alpha thalassemia/mental retardation syndrome X-linked gene(ATRX)subtypes.Tumor segmentation was performed manually using Insight Toolkit-SNAP program(www.itksnap.org).An inception convolutional neural network(CNN)with a subsequent linear layer was employed as the training encoder to capture multi-scale features from MRI slices.Fivefold cross-validation was utilized as the training strategy(seven samples for each fold),and the ratio of sample size of the training,validation,and test dataset was 4:1:1.The performance was evalu-ated by the accuracy and area under the curve(AUC).With the inception CNN,single modal of QSM showed better perfor-mance in differentiating glioblastomas(GBM)and other grade gliomas(OGG,grade II–III),and predicting IDH1 mutation and ATRX loss(accuracy:0.80,0.77,0.60)than either T2 FLAIR(0.69,0.57,0.54)or T1WI+C(0.74,0.57,0.46).When combining three modalities,compared with any single modality,the best AUC/accuracy/F1-scores were reached in grading gliomas(OGG and GBM:0.91/0.89/0.87,low-grade and high-grade gliomas:0.83/0.86/0.81),predicting IDH1 mutation(0.88/0.89/0.85),and predicting ATRX loss(0.78/0.71/0.67).As a supplement to conventional MRI,DL-assisted QSM is a promising molecular imaging method to evaluate glioma grades,IDH1 mutation,and ATRX loss.

FMR1 allele frequencies in 51,000 newborns:a large-scale population study in China

Background Fragile X syndrome(FXS).caused by CGG-repeat expansion in FMR1 promoter,is one of the most common causes of mental retardation.Individuals with full mutation and premutation alleles have a high risk of psychophysiological disorder and of having affected offspring.Frequencies of FMR1 alleles in general newborns have been reported in Caucasians but have not been investigated in the large-scale population in the mainland of China.Methods The sizes of FMRI CGG-repeats were analyzed in 51,661 newborns(28,114 males and 23,547 females)and also in a cohort of 33 children diagnosed with developmental delay using GC-rich polymerase chain reaction(PCR)and triple repeat primed PCR.Results The frequency of CGG repeats>100 was 1/9371 in males and 1/5887 in females,and the frequency of CGG repeats>54 was 1/1561 in males and 1/1624 in females.FMRJ full mutation and premutation were identified in 27.27%of children who had Ages and Stages Questionnaire scores less than two standard deviations from the cutoff value.Conclusions Our study revealed the prevalence of FXS in China and improved the sample databases of FXS,suggesting that the prevalence of FXS in Chinese is higher than estimated previously and that FXS screening can be advised to high-risk families.

Newborn screening for galactosemia:a 30-year single center experience

Background:Galactosemia due to complete or near-complete galactose-l-phosphate uridyltransferase(GALT)deficiency was the first disorder added to the pioneering newborn screening panel besides phenylketonuria.In the last 50 years,many criticisms have been focused on the opportunity of its inclusion.Consequently,long-term single center experiences with this issue are generally lacking.Methods:We reviewed the outcome of newborn screening for hypergalactosemia performed at our department since 1982 and the correspondent long-term clinical outcome.Results:Among 1123909 newborns screened for hypergalactosemia,33 showed abnormal results confirmed at second tier test.Thirteen patients were affected with classic galactosemia,8 partial GALT deficiency,3 severe galactokinase deficiency,7 transient galactosemia,one congenital porto-systemic shunt,and one glucose transporter 2 deficiency.Acute neonatal liver failure in the late first week of life(5.8±1.1 days)unavoidably complicated the clinical course of classic galactosemia,unless in three second-born siblings treated on the basis of presumptive diagnosis immediately after newborn screening sample collection on day 3.Despite early treatment and long­term steadily normal peripheral blood galactose,77%of patients with severe GALT deficiency present mild to severe intellectual disabilities.All patients with partial GALT deficiency showed normal intellectual development on a regular diet,as well as patients with galactokinase deficiency under treatment.Conclusions:Availability of screening results within the fifth day after birth would allow the prevention of acute decompensation in classic galactosemia.A systematic diagnostic work-up in all positive newborns is essential to unravel the etiology of hypergalactosemia.

Normalization of auditory evoked potential and visual evoked potential in patients with idiot savant

Objective To investigate the variations of auditory evoked potentials (AEP) and visual evoked potentials (VEP) of patients with idiot savant (IS) syndrome. Methods Both AEP and VEP were recorded from 7 patients with IS syndrome, 21 mentally retarded (MR) children without the syndrome and 21 normally age matched controls, using a Dantec concerto SEEG 16 BEAM instrument. Results Both AEP and VEP of MR group showed significantly longer latencies (P1 and P2 latencies of AEP, P<0.01; N1 and N2 latencies of VEP, P< 0.01/0.05), lower P2 amplitudes (P<0.01) and higher P3 amplitudes (P<0.01), as compared with normal controls. But none of above mentioned changes was found with IS group. Almost all MR patients (90.1%) presented P4 component in both AEP and VEP, which was also in sharp contrast with its incidence in other 2 groups (IS: 14.3%; normal controls: 9.5%). Conclusion Patients with idiot savant syndrome presented normalized AEP and VEP.

Partial trisomy 4q:a case report

The clinical findings frequently presented in trisomy 4q syndrome including mental retardation, developmental delay and multiple abnormalities such as microcephaly, acrocephaly, as well as malformed ears, high/broad/depressed nasal bridge, teeth and thumb anomalies. It has been proposed that trisomy 4q is caused by a familial balanced translocation or a de novo imbalance. We reported a new case of trisomy 4q with a karyotype of 46, XY, der（5）t（4;5）（q27;q35） and this karyotye was reported for the first time. His phenotype included severe mental retardation, growth retardation, facial and thumb anomalies. Detected by cytogenetic investigation, comparative genomic hybridization, multicolor fluorescence in situ hybridization, the duplicated region from 4q27 to 4qter was confirmed. Trisomy 4q is a rare clinical finding. To our knowledge, this is the eighth case with duplicated fragment spanning from 4q27 to 4qter. Comparing the karyotypic and phenotypic correlation with those previously described, we reported a new case with partial trisomy 4q syndrome.