Anxiety disorder is a major symptom of autism spectrum disorder (ASD) with a comorbidity rate of ~40%. However, the neural mechanisms of the emergence of anxiety in ASD remain unclear. In our study, we found that hyperactivity of basolateral amygdala (BLA) pyramidal neurons (PNs) in Shank3 InsG3680 knock-in (InsG3680^+/+) mice is involved in the development of anxiety. Electrophysiological results also showed increased excitatory input and decreased inhibitory input in BLA PNs. Chemogenetic inhibition of the excitability of PNs in the BLA rescued the anxiety phenotype of InsG3680^+/+ mice. Further study found that the diminished control of the BLA by medial prefrontal cortex (mPFC) and optogenetic activation of the mPFC-BLA pathway also had a rescue effect, which increased the feedforward inhibition of the BLA. Taken together, our results suggest that hyperactivity of the BLA and alteration of the mPFC-BLA circuitry are involved in anxiety in InsG3680^+/+ mice.
Animals ; Prefrontal Cortex/metabolism* ; Basolateral Nuclear Complex/metabolism* ; Mice ; Anxiety/metabolism* ; Nerve Tissue Proteins/genetics* ; Male ; Gene Knock-In Techniques ; Pyramidal Cells/physiology* ; Mice, Transgenic ; Neural Pathways/physiopathology* ; Mice, Inbred C57BL ; Microfilament Proteins

OBJECTIVE: To construct a longitudinal trajectory model of arterial oxygen tension (PaO₂) within 24 hours after cardiac arrest (CA). METHODS: A retrospective cohort study was conducted. CA patients admitted to the ICU from 2014 to 2015 were selected from the eICU Collaborative Research Database (eICU-CRD). Data about patients' demographic characteristics, history of comorbidities, laboratory test indicators within 24 hours of intensive care unit (ICU) admission [including all PaO₂ data and arterial carbon dioxide tension (PaCO₂)], vasopressor use, and clinical outcomes were extracted from the database. The primary outcome variable was all-cause in-hospital mortality. Group-based trajectory model (GBTM) were built based on the changes in PaO₂ within 24 hours of ICU admission, and patients were grouped according to their initial static PaO₂ values upon ICU admission. Multivariable adjusted Poisson regression analysis was used to compare the in-hospital mortality risk among patients in different PaO₂ dynamic trajectory groups. Sensitivity analyses were performed using multivariable logistic regression and multivariable adjusted Poisson regression without imputation of missing values. RESULTS: A total of 3 866 CA patients were included. Three GBTM trajectory groups were identified based on PaO₂ changes within 24 hours of ICU admission: Group-1 (low level first increased then decreased, 148 cases), Group-2 (sustained low level, 3 040 cases), and Group-3 (first high level then decreased, 678 cases). Significant differences were found among the three groups in age, body weight, maximum serum potassium, maximum PaCO₂, minimum hemoglobin (Hb), vasopressor use, total hospitalization time, ICU stay, and hospital mortality. After incorporating variables with significant differences into the multivariable adjusted Poisson regression model, results showed that compared to Group-2 patients, patients in Group-1 and Group-3 had an increased risk of all-cause in-hospital mortality [Group-1 adjusted relative risk (aRR) = 1.20, 95% confidence interval (95%CI) was 1.02-1.41; Group-3 aRR = 1.11, 95%CI was 1.01-1.24]. Based on initial static PaO₂ values at ICU admission, patients were divided into four groups: PaO₂ < 100 mmHg (1 mmHg = 0.133 kPa; 1 217 cases), PaO₂ 100-200 mmHg (569 cases), PaO₂ 201-300 mmHg (547 cases), and PaO₂ > 300 mmHg (1 082 cases). Multivariable adjusted Poisson regression analysis indicated a significant upward trend in aRR for the latter three groups compared to the PaO₂ < 100 mmHg group. Sensitivity analyses revealed that compared to Group-2, patients in Group-1 and Group-3 had a significantly increased risk of all-cause in-hospital mortality (both P < 0.05). CONCLUSIONS Within 24 hours after return of spontaneous circulation in CA patients, PaO₂ exhibits different dynamic trajectories, and patients with hyperoxia have an increased risk of in-hospital mortality.
Humans ; Retrospective Studies ; Hospital Mortality ; Heart Arrest/blood* ; Prognosis ; Oxygen/blood* ; Intensive Care Units ; Cardiopulmonary Resuscitation ; Male ; Female ; Middle Aged

Objective:To investigate the features and influencing factors of language in children with various types of speech disorders.Methods:A case-control study was carried out, 262 children with speech disorder had been diagnosed at the language-speech clinic of the Center of Children′s Healthcare, Children′s Hospital, Capital Institute of Pediatrics from January 2021 to November 2023, the children with speech sound disorder as the speech sound disorder group, the children with developmental stuttering as the stuttering group. There were 100 typically-developed children who underwent physical checkups at the Center of Healthcare during the same period as the healthy group. All children experienced a standardized evaluation of language with diagnostic receptive and expressive assessment of mandarin‐comprehensive(DREAM-C) and questionnaire, One-way ANOVA and LSD test were conducted to compare the differences in overall language, receptive language, expressive language, semantics, and syntax scores among 3 groups of children. According to the results of DREAM-C, the children with speech disorder were divided into language normal group and language delay group. Chi‐square test and multivariate Logistic regression were implemented to analyze the association between the linguistic development of children with speech disorder and potential influential factors.Results:There were 145 children in the speech sound disorder group, including 110 males and 35 females respectively, with an age of (5.9±1.0) years; 117 children in the stuttering group, including 91 males and 26 females, with an age of (5.8±1.0) years; 100 children in the healthy group, including 75 males and 25 females, with an age of (5.7±1.2) years. The variations in overall language, expressive language, and syntax scores among 3 groups of children were statistically significant (92±18 vs.96±11 vs. 98±11, 81±18 vs. 84±14 vs. 88±13, 87±16 vs. 89±11 vs. 91±10, F=5.46, 4.69, 3.68, all P<0.05). Pairwise comparison revealed that the speech sound disorder group had lower scores in overall language, expressive language, and syntactic compared to the healthy group, and the differences were statistically significant (all P<0.01) and the overall language score was lower than that of children with stuttering ( P<0.05). In terms of overall language and expressive language, there was a statistically significant difference in the incidence of language delay among the three groups of children (15.9% (23/145) vs. 20.5% (24/117) vs. 7.0% (7/100), 46.2% (67/145) vs. 39.3% (46/117) vs. 26.0% (26/100); χ2=7.93, 10.28; both P<0.05). In terms of overall language, the stuttering group took up the highest proportion. In terms of expressive language, the speech sound disorder group accounted for the highest amount. The incidence of language delay in children with speech disorder was 44.3% (116/262). Non-parent-child reading, daily screen time ≥1 hour and screen exposure before 1.5 years of age are risk factors for the development of language in children with speech disorder ( OR=1.87, 2.18, 2.01; 95% CI 1.07-3.27, 1.23-3.86, 1.17-3.45; all P<0.01). Negative family history are protective factors for the progress of language ability ( OR=0.37, 95% CI 0.17-0.81, P<0.05). Conclusions:Children with speech disorder tend to have easy access to language delay, especially in expressive language and syntax. The occurrence of language delay in children with speech disorder is tightly connected with factors such as the family medical history, parent-child reading, screen time, etc. Attention should be paid to the development of language in children who suffer from speech disorder.

Pelvic floor muscle training (PFMT) is the first-line intervention for non-surgical treatment of female patients with stress urinary incontinence (SUI). However, due to the particularity of the physiological position of the pelvic floor muscles, 13% to 53% of patients are unable to perform PFMT correctly after the initial visit. In view of this, scholars at China and abroad put forward some other sports rehabilitation methods and achieve good clinical results. In this paper, exercise rehabilitation methods for female SUI patients were reviewed, including PFMT, core muscle training, Pilates, yoga, physical activities, etc., in order to provide reference for medical personnel to formulate scientific and feasible exercise rehabilitation programs for female SUI patients.

Objective:To explore the value of amide proton transfer-weighted (APTw) imaging and intravoxel incoherent motion (IVIM) imaging for diagnosing and evaluating the pathological differentiation of cervix squamous cell carcinoma (CSCC).Methods:This study was a diagnostic trial. Totally 56 patients pathologically diagnosed with CSCC at the First Hospital of Lanzhou University from October 2021 to October 2022 were retrospectively collected, as the CSCC group. And 36 female healthy volunteers who underwent physical examinations at the First Hospital of Lanzhou University from October 2021 to October 2023 were recruited as the control group. CSCC patients were divided into well-moderately differentiated ( n=34) and poorly differentiated groups ( n=22). The region of interest was placed in the lesions of CSCC group and normal cervical stroma of control group, and the quantitative parameters for asymmetric magnetization transfer ratio (MTR asym) of APTw imaging and pure diffusion coefficient (D), false diffusion coefficient (D *) and perfusion fraction (f) for IVIM were obtained. The independent sample t test was used to compare the differences in quantitative parameters between the two groups, the logistic regression model was used to establish combined parameters for the quantitative parameters with statistical significance between the two groups. The receiver operator characteristic curve was used to evaluate the diagnostic efficacy of single quantitative parameters and combined parameters to distinguish the CSCC group from the control group, and the well-moderately differentiated group from the poorly differentiated group in CSCC patients. The area under the curve (AUC) was compared using the DeLong test. Results:There were significant differences in MTR asym, D and f between CSCC group and control group ( t=-9.79, 10.09, 11.35, P<0.001). Also, significant differences were found for MTR asym and D between the well-moderately differentiated and poorly differentiated group ( t=4.11, -3.76, P<0.001). There was no significant difference in other quantitative parameters ( P>0.05). When comparing the CSCC group and control group, the AUC (95% CI) of MTR asym, D, f and combined parameter (MTR asym+D+f) were 0.887 (0.804-0.944), 0.940 (0.871-0.979), 0.968 (0.909-0.993), 0.995 (0.950-1.000). The AUC of the combined parameter was higher than those of MTR asym and D, with statistical significance ( Z=3.07, 2.06, P=0.002, 0.040). When comparing the well-moderately differentiated and poorly differentiated group, the AUC (95% CI) of MTR asym, D, and combined parameter (MTR asym+D) were 0.789 (0.660-0.887), 0.775 (0.644-0.876), 0.852 (0.731-0.932). There was no significant difference between each two AUCs ( P>0.05). Conclusion:The quantitative parameters of APTw and IVIM imaging can be used to diagnose and preliminarily evaluate the pathological differentiation of CSCC. Joint parameters can improve the diagnostic efficiency of CSCC.

Objective:To investigate the status of We-Media platforms opened and opera-ted by surgeons in tertiary first-class hospitals nationwide and analyze its influence on patients and surgeons.Methods:The retrospective cross-sectional investigation study was conducted. The investigation was conducted on the surgeons who had opened We-Media platforms in their units or associations through the contact of all members of the second Elite Committee of Chinese Digestive Surgery of the Chinese Journal of Digestive Surgery from November 5 to 30, 2021. Questionnaires were distributed through wechat, and the software platform was Questionnaire Star. Observation indicators: (1) results of questionnaire survey; (2) basic information of surgeons running We-Media platforms; (3) daily workload and research background of surgeons running We-Media platforms; (4) information related to We-Media platforms; (5) influence of running We-Media platforms on patients; (6) influence of running We-Media platforms on surgeons; (7) feelings and suggestion of surgeons after running We-Media platforms. Measurement data with normal distribution were expressed as Mean± SD, and count data were expressed as absolute numbers and percentages. Results:(1) Results of questionnaire survey: a total of 229 complete and valid questionnaires were collected in this survey. (2) Basic information of surgeons running We-Media platforms: of 229 surgeons, there were 195 males and 34 females, aged (40±8)years. There were 120 surgeons aged from 36-45 years, 80 surgeons aged <35 years and 29 surgeons aged >45 years. There were 86.46% (198/229) of surgeons from teaching hospitals and 74.67%(171/229) of surgeons from provincial cities. Of 229 surgeons, junior, intermediate, deputy senior and senior titles accounted for 17.90%(41/229), 27.51%(63/229), 37.12%(85/229) and 17.47%(40/229), respectively. Surgeons with working years ≤5 years, 6-10 years, 11-15 years and ≥16 years accounted for 19.21%(44/229), 22.27%(51/229), 26.64%(61/229) and 31.88%(73/229), respectively. Hepatobiliary and pancreatic surgeons, esophageal and gastrointestinal surgeons were the main specialties, accounting for 48.03%(110/229) and 14.41%(33/229), respectively. The original intentions of opening We-Media platforms (multiple choice) included increasing patient population and improving the income, accumulating cases to facilitate clinical research projects, increasing the popularity of the industry and gain peer recognition, increasing social awareness and improving spiritual satisfaction, passive assignments form units or hospitals, which accounted for 52.84% (121/229), 54.15%(124/229), 64.19%(147/229), 58.08%(133/229), 17.90%(41/229), respectively. (3) Daily workload and research background of surgeons running We-Media platforms: 60.26%(138/229) of surgeons participated in offline social welfare activities 1-3 times per year and 26.64%(61/229) of surgeons participated >3 times per year. There were 47.60% (109/229) of surgeons performing 5-10 operations per week and 33.19%(76/229) of surgeons performing >10 operations per week. In terms of scientific researches, 38.43%(88/229) of surgeons had not published high-quality English articles as the first author or co-first author, 24.89%(57/229) of surgeons had published 1-3 articles and 36.68%(84/229) of surgeons had published >3 articles. There were 51.09%(117/229) of surgeons without any longitu-dinal projects, 13.54%(31/229) of surgeons with national projects, 35.37%(81/229) of surgeons with provincial and ministerial projects. (4) Information related to We-Media platforms: there were 65.50%(150/229) of surgeons running wechat public account, 55.02%(126/229) of surgeons running consultation platform, 31.44%(72/229) of surgeons running TikTok, 21.40%(49/229) of surgeons running wechat video account (some surgeons operated multiple We-Media platforms). The time of operating the platform was <1 year in 35.81%(82/229) of surgeons, 1-3 years in 42.79%(98/229) of surgeons, >3 years in 21.40%(49/229) of surgeons, respectively. The contents of We-Media platforms were updated >2 weeks in 45.85%(105/229) of surgeons. There were 63.32%(145/229) of surgeons with We-Media platforms win-ning emotional support from their department or hospital, 12.66%(29/229) of surgeons with We-Media platforms winning financial support. There were 82.53%(189/229) of surgeons operating We-Media platforms by theirselves. The We-Media plat-form operation was smooth in 47.16%(108/229) of surgeons, unsustainable in 50.22%(115/229) of surgeons and suspended in 2.62%(6/229) of surgeons. On average, it took less than 30 minutes for 60.70%(139/229) of surgeons and 30-60 minutes for 27.07%(62/229) of surgeons to operate the We-Media platforms of surgeons every times, respec-tively. The background message or consulta-tion was allowed in 89.08%(204/229) of surgeons. The number of leaving messages was <5 times in 52.84%(121/229) of surgeons and >50 times in 6.99%(16/229) of surgeons. On average, each content in 59.39%(136/229) of surgeons were "liked" or "viewed" <100 times, and each content in 29.26%(67/229) of surgeons were "liked" or "viewed" 100-300 times. There were 60.26%(138/229) of surgeons having content with the highest "liked" or "viewed" clicks <1 000 times and 6.99%(16/229) of surgeons having content with the highest "liked" or "viewed" clicks >10 million times. On average, each content in 74.67%(171/229) of surgeons were "forwarded" <100 times, and each content in 6.55%(15/229) of surgeons were "forwarded" >300 times, respectively. The number of followers was <1 million in 87.34%(200/229) of surgeons. The We-Media audiences (multiple choices) included related professional peers, related health care professionals, patients of surgeons, general public, accounting for 42.36%(97/229), 31.00%(71/229), 52.40%(120/229), 53.71%(123/229), respectively. (5) Influence of running We-Media platforms on patients: 34.93%(80/229) of surgeons believed that the operation of We-Media platform significantly increased the number of outpatient and inpatient patients of themselves, 29.69%(68/229) of surgeons believed that the operation of We-Media platform significantly increased the number of outpatient and inpatient patients in their departments, respectively. In the view of 75.98%(174/229) of surgeons, the percent of outpatient and inpatient patients by We-Media platforms was <10%. After 6 months of We-Media operation, 39.74%(91/229) and 25.33%(58/229) of surgeons believed that inpatient and outpatient compliance was significantly improved, respectively, and 46.29% (106/229) of surgeons believed that preopera-tive and pre-chemotherapy or pre-radiotherapy conversations saved more time. (6) Influence of running We-Media platforms on surgeons: 20.09%(46/229) and 6.55%(15/229) of surgeons attributed the success to "long-term, sustainable, absorbed operation" and "important contents of We-Media platforms and wide audiences". There were 72.49%(166/229) of surgeons yet to be successful. There were 26.64% (61/229) and 22.27%(51/229) of surgeons believing that opening We-Media platforms was conducive to the association's employment and multicenter clinical research. Operating We-Media platforms was conducive to professional knowledge improvement, clinical research ability enhancement and teaching level of students, which was believed by 54.59%(125/229), 40.17%(92/229) and 48.91%(112/229) of surgeons, respectively. Although the total income in 88.65%(203/229) of surgeons increased less than 20% after 6 months of operation, 47.60%(109/229) of surgeons believed that "the sense of achievement or pleasure in work has been significantly improved", and 48.91%(112/229) of surgeons did not have the idea of quitting. There were 7.42%(17/229) of surgeons with the idea of quitting the operation of We-Media platforms. (7) Feelings and suggestions of surgeons after running We-Media platforms: the proportion of surgeons who hoped to get help from departments, hospitals, associations and the society were 61.57%(141/229), 72.05%(165/229), 47.16%(108/229) and 53.28%(122/229), respectively. Only 9.61%(22/229) of surgeons did not require help. Commercial advertisement was allowed by 40.17%(92/229) of surgeons and forbidden by 59.83%(137/229) of surgeons. In terms of alternative suggestion, 70.74%(162/229) of surgeons believed that it was necessary for the We-Media platforms to involve more doctors of different specialties, but 40.61%(93/229) of surgeons believed that relevant departments or associations should strengthen supervision under the current situation. In addition, 32.75%(75/229) of surgeons believed that the operation of We-Media platform requires more investment. The were 27.95%(64/229) of surgeons giving specific suggestions on running We-Media platforms, 7.81%(5/64) of which did not suggest a blind try.Conclusions:Most surgeons who open and operate We-Media platforms in China are faced with problems such as busy work, limited time and energy, low-income increase, and lack of professional promotion and maintenance teams and external support. Even so, there are still many surgeons who have achieved success through long-term persistence and high-quality content output, thus increasing the number of patient visits, improving their own ability and industry influence, and bringing a greater sense of professional achievement.

Objective:To establish a new classification of lateral clavicle fractures and to evaluate its clinical value.Methods:The data of 67 patients with lateral clavicle fractures admitted from January 2016 to December 2020 were included. Thirty-seven cases were from Shanghai First People's Hospital, including 22 males and 15 females, with an average age of 49.1 years (22-78 years). Thirty cases were from the Second Upper Limb Ward of Tianjin Hospital of Tianjin, including 20 males and 10 females, with an average age of 47.6 years (19-76 years). The ligament injury was determined by measuring the coracoclavicular space on Zanca view X-ray and the distance between the fracture fragment on the inferior surface of the 3D-CT and the distal end of the clavicle. All patients were classified according to the new classification (based on the measurement on Zanca view X-ray and 3D-CT reconstruction, the relationship between the fracture and the coracoclavicular ligament footprint, coracoclavicular ligament injury, the injury of the acromioclavicular joint and the stability of the fracture), conservative treatment is preferable for stable fractures, and surgical treatment for unstable fractures. Three experienced orthopaedic surgeons and three radiologists independently observed the imaging data of 67 patients with distal clavicle fractures, determined the fracture type according to the new classification, and randomly reclassified after 4 weeks interval. Finally, 15 cases were randomly selected for internal control (2 junior orthopedic physicians), and the ICC value was used to assess the reliability. Results:The lateral clavicle fractures were divided into 5 types according to the Gongji classification. Type 1: isolated conical tubercle avulsion fracture, and the fracture line is located medial to the coracoid process; Type 2: complete involvement of the trapezoid & conical ligament at the clavicle insertion, and the fracture line extends to the middle of the clavicle, mean while the acromioclavicular joint is intact; Type 3: fracture fragments on the inferior surface involving the trapezoidal/conical ligament, respectively; Type 4: rupture of the conical ligament, and avulsion fracture of the trapezoid ligament; Type 5: conical ligament intact, and avulsion fracture of clavicle insertion of the trapezoid ligament. There were 18 cases of type 1, 4 cases of type 2, 8 cases of type 3, 32 cases of type 4, and 5 cases of type 5. The inter-observer and intra-observer agreement of all included cases was good (inter-group: first ICC=0.764, second ICC=0.778; intra-group: shoulder specialist ICC=0.782, radiologist ICC=0.750, internal control ICC=0.793). Types 1 and 2 fractures were fixed with anatomical plate and coracoid anchor. Type 3 and 4 fractures were fixed with clavicle hook plate and coracoid anchor. And type 5 underwent conservative treatment. At the last follow-up, all patients had no obvious shoulder joint instability and pain, and no internal fixation failure or fixation breakage was found. Conclusion:The Gongji classification has moderate reliability between observers and intra-observers, and the Gongji distal clavicle fracture classification has a good significance for evaluating the stability of the fracture and guiding the selection of the treatment.

OBJECTIVES: Rhinoplasty is one of the most common cosmetic surgeries in China. Septal extension grafts (SEG) have been widely used in rhinoplasty, but there are few reports on SEG derived from ear cartilage. This study aims to explore the effectiveness and stability of auricular cartilage nasal SEG transplantation in Chinese rhinoplasty. METHODS: A retrospective analysis of 35 rhinoplasty patients admitted from September 2019 to March 2022 has been conducted. Among them, 29 patients underwent rhinoplasty for the first time and 6 patients underwent rhinoplasty with the age of 18-32 (average 22.4) years old. The postoperative follow-up was 3-28 (average 18.5) months. The improvement of the nose shape was observed. The changes of the nose tip angle, nasolabial angle, and nasofrontal angle were compared between before and after the operation, and the complications were recorded. RESULTS: All patients who underwent rhinoplasty with a septal extension grafts constructed from the concha cavity and concha cartilage showed significant improvement in nasal contour. The preoperative nasal tip angle, nasolabial angle, and nasofrontal angle were significantly improved compared with 3 months after operation (all P<0.001), and there was no significant difference between 3 months and 14 months after operation (all P>0.05). The appearance of nasal cavity was satisfactory in 32 patients after operation. Columella deviation occurred in 2 patients and 1 patient complained of downward rotation of the nasal tip, which was satisfied after readjustment of the graft. CONCLUSIONS The simplified SEG derived from auricular cartilage can provide stable support for the nasal tip, the nasal shape is natural after operation, and minimal trauma of unilateral auricle cartilage transplantation remains.
Humans ; Young Adult ; Adult ; Rhinoplasty ; Ear Cartilage/transplantation* ; Retrospective Studies ; Nasal Septum/transplantation* ; Plastic Surgery Procedures

cFos is one of the most widely-studied genes in the field of neuroscience. Currently, there is no systematic database focusing on cFos in neuroscience. We developed a curated database-cFos-ANAB-a cFos-based web tool for exploring activated neurons and associated behaviors in rats and mice, comprising 398 brain nuclei and sub-nuclei, and five associated behaviors: pain, fear, feeding, aggression, and sexual behavior. Direct relationships among behaviors and nuclei (even cell types) under specific stimulating conditions were constructed based on cFos expression profiles extracted from original publications. Moreover, overlapping nuclei and sub-nuclei with potentially complex functions among different associated behaviors were emphasized, leading to results serving as important clues to the development of valid hypotheses for exploring as yet unknown circuits. Using the analysis function of cFos-ANAB, multi-layered pictures of networks and their relationships can quickly be explored depending on users' purposes. These features provide a useful tool and good reference for early exploration in neuroscience. The cFos-ANAB database is available at www.cfos-db.net .
Animals ; Fear ; Mice ; Neurons ; Proto-Oncogene Proteins c-fos ; Rats

We report a case of a pregnant woman with 46,XX karyotype and positive sex-determining region on the Y chromosome ( SRY) gene and her female fetus. Ultrasound examination at 12 +6 gestational weeks indicated a thickened fetal nuchal translucency, and 46, XX with a positive SRY gene was detected in the fetus through quantitative fluorescent-polymerase chain reaction and amniotic fluid karyotype. However, the ultrasound showed that the gender of the fetus was female, which was inconsistent with the phenotype of male syndrome with 46, XX combining positive SRY gene. The fluorescent in situ hybridization (FISH) revealed that the short arm of the Y chromosome translocated to the long arm of one of the X chromosomes, namely Yp11.3-Xq28. In addition, a copy number variation at Yp11.31p11.2 copy (about 1 MB) was found by chromosomal microarray analysis, which validated the result of FISH and was consistent with the mother. After genetic counseling, the parents chose to continue the pregnancy to full term, and no abnormalities were found in the infant during the follow-up.