A comprehensive bench-to-bed look into the application of gamma-sterilized 3D-printed polycaprolactone/hydroxyapatite implants for craniomaxillofacial defects, an in vitro, in vivo, and clinical study.

This study investigates the safety and efficacy of 3D-printed polycaprolactone/hydroxyapatite (PCL/HA) scaffolds for patient-specific cranioplasty surgeries, employing liquid deposition modeling (LDM) technology. This research is pioneering as it explores the impact of gamma radiation on PCL/HA scaffolds and utilizes printing ink with the highest content of HA known in the composite. The mechanical, morphological, and macromolecular stability of the gamma-sterilized scaffolds were verified before implantation. Subsequent research involving animal subjects was conducted to explore the effects of sterilized implants. Eventually, three clinical cases were selected for the implantation studies as part of a phase 1 non-randomized open-label clinical trial. It was shown that a 25 kGy gamma-ray dose for sterilizing the printed implants did not alter the required geometrical precision of the printed implants. The implants exhibited well-distributed HA and strength comparable to cancellous bone. Gamma radiation reduced hydrophobicity and water uptake capacity without inducing pyrogenic or inflammatory responses. Personalized PCL/HA substitutes successfully treated various craniomaxillofacial defects, including trauma-induced facial asymmetry and congenital deformities. HA nanoparticles in the ink stimulated significant osteoconductive responses within three months of implantation. Moreover, the results revealed that while larger implants may exhibit a slower bone formation response in comparison to smaller implants, they generally had an acceptable rate and volume of bone formation. This clinical trial suggests the application of a sterilized PCL/HA composite for craniomaxillofacial surgery is safe and could be considered as a substitute for autologous bone.

Craniosynostosis in Isfahan, Iran: A Cross-Sectional Study.

Background: Craniosynostosis is the premature closure of cranial sutures. According to the literature, several factors are related to this disorder. Due to the relatively high prevalence in Iran and a lack of related studies in this region, this study was designed to determine the characteristics of a group of these patients in this region. Methods: This cross-sectional study was performed from 2016 to 2019 at two tertiary referral hospitals for children in Isfahan, Iran. Studied variables included: age, sex, birth weight, type of craniosynostosis, concurrent anomalies, parents' age, father's job, fetus position, maternal parity, history of maternal smoking during the pregnancy, use of fertility assistant treatments, and history of maternal endocrine disorders. Results: We had 125 infants, including 82 (65.6%) males and 43 (34.4%) females. The most common type was metopic (29%). The most common concurrent disorder was congenital heart defects (43.2% of patients). The mean age of infants was 0.62SD0.59 years. Gender distribution showed a significant difference (p value = 0.006). While the metopic (n = 31) type was significantly more common in boys, the coronal type was female predominant (n = 14). The mean age of fathers was 33.08SD5.66 and mothers, was 29.02SD5.70 with no significant difference (p value = 0.669 and 0.149, respectively). Other evaluated factors also didn't show a significant difference. Conclusion: Craniosynostosis is more prevalent in boys, especially the metopic type. Coronal type has a female predilection. The most common subtype is metopic. The most common concurrent congenital disorder is congenital heart defects.

Liposuction versus Periareolar Excision Approach for Gynecomastia Treatment.

Background: Gynecomastia (GM) is the increased fibroglandular tissue in the male breast by more than 2 cm, which is palpated under the nipple and areola. An ideal surgical approach aims to reduce the breast size, reach an acceptable breast shape, resect excessive glandular tissue, fatty tissue, and skin fatty tissue and excess skin, relocate the nipple-areolar complex, and avoid scars. Based on its importance, we aimed to compare outcomes of liposuction with and without periareolar incision in patients with GM. Materials and Methods: This was a randomized clinical trial on patients referred for plastic surgery. Patients with GM were allocated into two treatment groups. Group A underwent liposuction without any areolar skin incision and group B had liposuction with the areolar skin incision. Patients were followed-up after surgery. Data were analyzed by Statistical Package for the Social Sciences (SPSS) version 20. Results: Sixty patients aged between 20 and 27 years old participated in this study. Three hematomas, two surgical site infections, one nipple hypopigmentation after surgery, and one seroma formation were noted in group B. On the other hand, one hematoma and one seroma formation were noted in group A. The patients in group A were highly satisfied after the liposuction without skin incision procedure compared with group B (P = 0.01). Conclusions: The management of GM by liposuction, either with the periareolar excision technique or without skin incision, allows the effective removal of fat and glandular tissue of the male breast. Although there was no significant difference regarding postoperation complications between groups, patients' satisfaction should be considered.

Speech outcomes after palatal closure in 3-7-year-old children / Resultados da fala após o reparo de fenda palatina em crianças de 3 a 7 anos

Abstract Introduction: One of the main goals of the team approach in management of oro-facial clefts is to help the children with cleft palate have adequate speech development. Objective: The present study aimed to investigate the prevalence of articulation and resonance disorders following palate closure in children who were visited for routine examination by the Isfahan Cleft Care Team between 2011 and 2015, and to study the impact of cleft type and age at the time of palatoplasty on speech outcomes. Methods: Clinical records of 180 preschool children with repaired cleft palate were reviewed. The percentage of children demonstrating hypernasality, nasal emission, nasal turbulence, and compensatory misarticulations was calculated. The relationship between cleft type and age at the time of palatal surgery, as independent variables, and speech outcomes were examined. Results: 67.7 and 64.5 percent of the children demonstrated respectively moderate/severe hypernasality and nasal emission, and 71.1 percent produced compensatory misarticulations. Age at the time of palatal repair was significantly associated with compensatory misarticulations and also with moderate/severe hypernasality. The prevalence of compensatory misarticulations, significant hypernasality, nasal emission and also nasal turbulence was not significantly different in various types of cleft. Conclusions: We observed a high prevalence of different speech disorders in preschool children with repaired cleft palate compared to other studies. This can be partly due to late palatal repair in the studied population. Despite many advances in cleft palate management programs in Iran, there are still many children who do not access the interdisciplinary team cares in their early childhood. We should, therefore, try to increase accessibility of appropriate and timely management services to all Iranian children with cleft lip/palate.

Resumo Introdução: Um dos principais objetivos da abordagem em equipe no tratamento das fendas orofaciais é contribuir para que as crianças com fenda palatina tenham um desenvolvimento adequado da fala. Objetivo: Investigar a prevalência de distúrbios de articulação e ressonância após o reparo da fenda palatina em crianças acompanhadas no Isfahan Cleft Care Team entre 2011 e 2015; e avaliar o impacto do tipo de fenda e da idade na época da palatoplastia nos resultados da fala. Método: Os prontuários de 180 pré-escolares com fenda palatina reparada foram revisados para determinação da porcentagem de crianças com hipernasalidade, emissão nasal, turbulência nasal e distúrbios articulatórios compensatórios. A relação entre o tipo de fenda e a idade no momento da cirurgia de palato, como variáveis independentes, e os resultados de fala também foram avaliados. Resultados: Das crianças, 67,7% e 64,5% apresentavam hipernasalidade moderada/grave e emissão nasal, respectivamente, e 71,1% tinham distúrbios articulatórios compensatórios. A idade no momento do reparo do palato foi significantemente associada aos distúrbios articulatórios compensatórios e também à hipernasalidade moderada/grave. A prevalência de distúrbios articulatórios compensatórios, hipernasalidade significativa, emissão nasal, assim como da turbulência nasal, não foi significantemente diferente nos vários tipos de fenda. Conclusão: Observou-se maior prevalência de diferentes alterações de fala em pré-escolares com fenda palatina reparada em comparação a outros estudos. Isso pode ser parcialmente decorrente do reparo palatino tardio na população estudada. Apesar dos muitos avanços nos programas de tratamento de fenda palatina no Irã, ainda existem muitas crianças que não têm acesso aos cuidados de uma equipe interdisciplinar na primeira infância. Devemos, portanto, tentar aumentar a acessibilidade de serviços de tratamento apropriados e oportunos para todas as crianças iranianas com fenda labiopalatina.

Speech outcomes after palatal closure in 3-7-year-old children.

INTRODUCTION: One of the main goals of the team approach in management of oro-facial clefts is to help the children with cleft palate have adequate speech development. OBJECTIVE: The present study aimed to investigate the prevalence of articulation and resonance disorders following palate closure in children who were visited for routine examination by the Isfahan Cleft Care Team between 2011 and 2015, and to study the impact of cleft type and age at the time of palatoplasty on speech outcomes. METHODS: Clinical records of 180 preschool children with repaired cleft palate were reviewed. The percentage of children demonstrating hypernasality, nasal emission, nasal turbulence, and compensatory misarticulations was calculated. The relationship between cleft type and age at the time of palatal surgery, as independent variables, and speech outcomes were examined. RESULTS: 67.7 and 64.5 percent of the children demonstrated respectively moderate/severe hypernasality and nasal emission, and 71.1 percent produced compensatory misarticulations. Age at the time of palatal repair was significantly associated with compensatory misarticulations and also with moderate/severe hypernasality. The prevalence of compensatory misarticulations, significant hypernasality, nasal emission and also nasal turbulence was not significantly different in various types of cleft. CONCLUSIONS: We observed a high prevalence of different speech disorders in preschool children with repaired cleft palate compared to other studies. This can be partly due to late palatal repair in the studied population. Despite many advances in cleft palate management programs in Iran, there are still many children who do not access the interdisciplinary team cares in their early childhood. We should, therefore, try to increase accessibility of appropriate and timely management services to all Iranian children with cleft lip/palate.

Giant High-Grade Immature Teratoma of the Central Nervous System (CNS) in an Infant: A Case Report.

BACKGROUND The central nervous system (CNS) is a rare point of origin for mature or immature teratomas. However, immature teratomas are extremely rare. CNS teratomas have been known for poor patient prognosis and recovery and also reduce survival. However, chemoradiotherapy has been reported to increase patient survival. CASE REPORT This study presents a rare giant immature teratoma invading a newborn infant's brain tissue and CNS. The tumor was surgically removed, and in a further 1-year follow-up, it did not need chemotherapy or radiotherapy according to alpha-fetoprotein (aFP) level and other serum markers. The teratoma had affected multiple loci of his brain's left hemisphere, including parietal, frontal, temporal, and occipital lobes. A teratoma was diagnosed lateral to the midline, which is not common in CNS teratomas, as they mainly occur in or near the midline. The tumor was excised completely. The patient was followed up for 1 year, and no further recurrence was observed. CONCLUSIONS Early diagnosis and treatment of immature teratomas are essential in patient prognosis. Chemotherapy is not always needed, but complete surgical removal and patient follow-up are always a necessity. In addition, adequate follow-up of these patients is critical to evaluate their further treatment plan and recurrence risk.

Comparative Experimental Study of Dermal Stability: Acellular Dermal Matrix versus Crayopreserved Dermis.

BACKGROUND: Given the potential usefulness of Acellular Dermal Matrices (ADM) for wound healing, we aimed to evaluate the stability, histological characteristics, and effectiveness of ADM compared with cryopreserved dermis (CPD) in rat models. METHODS: This experimental study was conducted in the Department of Surgery, Isfahan University of Medical Sciences, Isfahan, Iran, from January to March 2015. The prepared ADM and CPD were transplanted to the full-thickness skin defects on the back of Sprague-Dawley rats. Forty-five days after grafting, the tissues were harvested for histological examination. These two types of the dermis' quality and stability were compared with consideration of the following factors; inflammation, fibroblasts migration, vascularization, collagen formation, capsule formation, and microabscess formation. RESULTS: From 19 selected rates, nine received CPD, and ten were treated with ADM. After transplantation, the mean (SD) weight of ADM and CPD grafts were 1.74 (0.07) and 1.45 (0.77), respectively (P<0.001). The frequency of inflammation was significantly higher in CPD grafts (P<0.01). Higher grades of collagen organization, fibroblast spreading, and vascularization were more frequent in ADM grafts (P<0.01). The frequency of capsule and microabscesses formation was not significantly different between studied groups. CONCLUSION: ADM have a superior effect than CPD in the wound healing process. Both samples had a similar effect in capsule and microabscesses formation and higher costs of ADM preparation. According to the physicians' decision and evaluation of the process's cost-effectiveness, CPD could be appropriately used as an alternative to ADM.

Erratum to Assessment of outcomes and complications of posterior pharyngeal wall augmentation with dermal fat graft in patients with Velopharyngeal Insufficiency (VPI) after primary cleft palate repair: A pilot study [JPRAS Open. Volume 19, March 2019, Pages 6-18].

[This corrects the article DOI: 10.1016/j.jpra.2018.10.003.].

Non-syndromic cleft palate: Association analysis on three gene polymorphisms of the folate pathway in Asian and Italian populations.

Periconceptional folic acid supplementation can reduce the risk of inborn malformations, including orofacial clefts. Polymorphisms of MTHFR, TCN2, and CBS folate-related genes seem to modulate the risk of cleft lip with or without cleft palate (CL/P) in some populations. CL/P and cleft palate only (CPO) are different malformations that share several features and possibly etiological causes. In the present investigation, we conducted a family-based, candidate gene association study of non-syndromic CPO. Three single nucleotide polymorphisms, namely, rs1801133 of MTHFR, rs1801198 of TCN2, and rs4920037 of CBS, were investigated in a sample that included 129 Italian and 65 Asian families. No evidence of association between the three genotyped polymorphisms and CPO was found in the Italian and Asian cases, indeed the transmission disequilibrium test did not detect any asymmetry of transmission of alleles. This investigation, although with some limitation, further supports that CL/P and CPO diverge in their genetic background.

The incidence of velopharyngeal insufficiency and oronasal fistula after primary palatal surgery with Sommerlad intravelar veloplasty: A retrospective study in Isfahan Cleft Care Team.

OBJECTIVES: This study was designed to determine the incidence of velopharyngeal insufficiency (VPI), oronasal fistula development and facial grimace in patients seen by Isfahan Cleft Care Team (ICCT) after primary Sommerlad intravelar veloplasty (SIVV). Furthermore the association of gender, cleft type and age at primary surgery with the incidence of hypernasality and fistula is determined. METHODS: A group of 40 patients with history of cleft palate with or without cleft lip were identified from the records of ICCT between 2011 and 2014. The main outcome measures were the incidence of hypernasality and fistula after primary palate repair with SIVV. Speech recordings were analyzed by consensus by two speech therapists according to the Cleft Audit Protocol for Speech- Augmented (CAPS-A), (Kappa = 82.4). Deciding whether or not to have a fistula was based on the oral examination videos. RESULTS: Severe and moderate hypernasality was observed in 42.5% of patients. Normal resonance and mild/borderline hypernasality was observed in 37.5% and 20% of patients, respectively. The frequency of fistulas was 7.5%. There was a significant association between hypernasality with cleft type and the age at primary surgery (p < 0.05). CONCLUSION: Significant progress has been made in the outcomes of the primary palate surgeries with the SIVV technique compared to the previous study in the ICCT.

Assessment of outcomes and complications of posterior pharyngeal wall augmentation with dermal fat graft in patients with Velopharyngeal Insufficiency (VPI) after primary cleft palate repair: A pilot study.

INTRODUCTION: Materials used for posterior pharyngeal wall augmentation have been associated with important complications (exogenous materials) or variable and unpredictable durability (exogenous and endogenous materials); therefore, introducing a different material for augmenting the posterior pharyngeal wall seems necessary for reviving this relatively forgotten technique.The purpose of this study was to emphasize on the use of a material associated with minimal complications and maximum recovery and durability in correcting VPI and the use of evaluative adjuncts such as nasoendoscopy and videofluoroscopy to assess surgical outcomes. METHODS: In a pilot study, 24 patients underwent posterior pharyngeal wall augmentation with dermal fat graft harvested from the low crease abdominal region. Early and late complications, autologous graft durability in posterior pharynx, and speech improvement were assessed. RESULTS: There was a significant improvement in hypernasality, nasal emission, and nasal grimace after posterior pharyngeal wall augmentation with dermal fat graft (p<0.0001). The authors observed no significant life-threatening complication. The most evident short-term complication was snoring, which occurred in five patients, and all relieved uneventfully. CONCLUSION: The authors believe that augmenting the posterior pharyngeal wall with dermal fat graft is effective in improving hypernasality in patients with moderate velopharyngeal gap size and relatively adequate velar motion. This method has minimal complication profile because of autologous tissue application.

Classic high lateral tension and triangular resection methods to prevent dog ear and elongation scar in patients undergoing abdominoplasty: A comparative open-label clinical trial.

BACKGROUND: One of the most common operations in the plastic surgery curse is abdominoplasty. Several methods were recommended for achieving better results. In the present study, efficacy of a new method compared with classical high lateral tension on preventing dog ear and elongation scar was evaluated. MATERIALS AND METHODS: in an open-label, randomized clinical trial, seventy patients who were candidates for abdominoplasty were selected and randomly divided into two groups. The first group was operated by classic high lateral method and the second group was operated by a new method concentrating on changing incision line and angle. Dog ear prevention, length of scar, improvement, and postoperative complications were compared between the two groups. RESULTS: The mean ± standard deviation (SD) length of scar in treated patients with classical and new abdominoplasty surgical methods was 53.68 ± 6.34 and 41.71 ± 1.78 cm, respectively, and the length of scar in the group treated with the new method was significantly shorter (P < 0.001). The mean ± SD distance between two anterior superior iliac spine in group treated by new method was significantly decreased after surgery (31.3 ± 1.3 cm) compared to before intervention (36.7 ± 3.9 cm) (P < 0.01). CONCLUSION: The new method is more likely to be successful in patients with high lateral tension abdominoplasty. However, according to the lack of similar studies in this regard and the fact that this method was introduced for the first time, it is recommended that further studies in this area are needed and patients in term of complications after surgery need a longer period of follow-up.

Surgical correction of upper lip deficit in patients with cleft lip using dermis fat graft.

BACKGROUND: This study aimed to assess dermis fat graft (DFG) as a choice to correct the tissue deficit in the free border of the upper lip in cleft lip repair surgery. MATERIALS AND METHODS: Thirty-five individuals who referred to Alzahra Hospital at 2013-2014, with lip deformity following the primary repair surgery of cleft lip underwent surgery by DFG technique. Outcomes were assessed 4 months after the surgery based on comparison of preoperative and postoperative photographs. RESULTS: The results in 18 (51.42%) patients were excellent, 10 (28.57%) good, and 7 (20%) intermediate according to the satisfaction of patients and investigators in terms of filling of lip deficit and motion of the upper lip. Moreover, complications and pain were minimal after 4-month follow-up. CONCLUSION: This method introduces an admissible method with 80% good to excellent results based on satisfactory of patients and surgeon.

A comparison of outcome of medical and surgical treatment of migraine headache: In 1 year follow-up.

BACKGROUND: This study was designed to compare the efficacy of the medical treatment versus the surgical treatment approach to decompression of trigger point nerves in patients with migraine headaches. MATERIALS AND METHODS: Fifty volunteers were randomly assigned to the medical treatment group (n = 25) or the surgical treatment group (n = 25) after examination by the team neurologist to ensure a diagnosis of migraine headache. All patients received botulinum toxin type A to confirm the trigger sites. The surgical treatment group underwent surgical deactivation of the trigger site(s). The medical treatment group underwent prophylactic pharmacologic interventions by the neurologist. Pretreatment and 12-month posttreatment migraine headache frequency, duration, and intensity were analyzed and compared to determine the success of the treatments. RESULTS: Nineteen of the 25 patients (76%) in the surgical treatment group and 10 of the 25 patients (40%) in the medical treatment group experienced a successful outcome (at least a 50% decrease in migraine frequency, duration, or intensity) after 1 year from surgery. Surgical treatment had a significantly higher success rate than medical treatment (P < 0.001). Nine patients (36%) in the surgical treatment group and one patient (4%) in the medical treatment group experienced cessation of migraine headaches. The elimination rate was significantly higher in the surgical treatment group than in the medical treatment group (P < 0.001). CONCLUSIONS: Based on the 1-year follow-up data, there is strong evidence that surgical manipulation of one or more migraine trigger sites can successfully eliminate or reduce the frequency, duration, and intensity of migraine headaches in a lasting manner.

Reciprocal 22q11.2 Deletion and Duplication in Siblings with Karyotypically Normal Parents.

The 22q11.2 locus is known to harbor a high risk for structural variation caused by non-allelic homologous recombination, resulting in deletions and duplications. Here, we describe the first family with one sibling carrying the 22q11 deletion and the other carrying the reciprocal duplication. FISH and SNP array analysis of the parents show a maternal origin for both deletion and duplication, without indications of balanced deletions/duplications or mosaicism. We hypothesize that germline mosaicism in the mother underlies the deletion and duplication, which would implicate a high recurrence risk for her offspring.

Prevalence of 22q11.2 microdeletion syndrome in Iranian patients with cleft palate.

BACKGROUND: 22q11.2 microdeletion syndrome is the most common multiple genetic disorder associated with learning disabilities, developmental delays, immune deficiency, hypocalcemia, and cleft palate. Finding some valid criteria for screening of 22q11.2 deletion syndromes in infants would be very helpful in early diagnosis and treatment. MATERIALS AND METHODS: Since 69% of individuals with 22q11.2 deletion have a palatal abnormality, we studied the prevalence of 22q11.2 deletion syndrome in 378 Iranian patients during a 5-year period, including 291 patients affected with cleft palate only without cleft lip (CPO) and 87 patients affected with velopharyngeal incompetence (VPI) and/or submucous cleft palate (SMCP). DNA copy number was analyzed with multiplex ligation-dependent probe amplification (MLPA) technique. RESULTS: In our study, 15/378 (3.97%) patients with palatal anomalies showed 22q11.2 deletion. Interestingly, this prevalence between syndromic patients was 15/104 (14.42%). CONCLUSION: It seems that SMCP or VPI, in addition to one or more another features of 22q11.2 deletions, especially developmental delay, may be good criteria for molecular investigation of 22q11.2 region.

Identification of Proximal and Distal 22q11.2 Microduplications among Patients with Cleft Lip and/or Palate: A Novel Inherited Atypical 0.6 Mb Duplication.

Misalignments of low-copy repeats (LCRs) located in chromosome 22, particularly band 22q11.2, predispose to rearrangements. A variety of phenotypic features are associated with 22q11.2 microduplication syndrome which makes it challenging for the genetic counselors to recommend appropriate genetic assessment and counseling for the patients. In this study, multiplex ligation probe dependent amplification (MLPA) analysis was performed on 378 patients with cleft lip and/or palate to characterize rearrangements in patients suspected of 22q11.2 microduplication and microdeletion syndromes. Of 378 cases, 15 were diagnosed with a microdeletion with various sizes and 3 with duplications. For the first time in this study an atypical 0.6 Mb duplication is reported. Illustration of the phenotypes associated with the microduplications increases the knowledge of phenotypes reported in the literature.

Incidence of velopharyngeal insufficiency and oronasal fistulae after cleft palate repair: A retrospective study of children referred to Isfahan Cleft Care Team between 2005 and 2009.

OBJECTIVE: The purpose of this study is to determine the incidence of velopharyngeal insufficiency (VPI) and fistulae development in patients seen by the Isfahan Cleft Care Team and also determine the association of gender, age at repair, and cleft type with the incidence of each. METHODS: This retrospective study was completed using records of patients referred to Isfahan Cleft Care Team between 2005 and 2009. One hundred thirty-one patients with a history of cleft palate (with or without cleft lip) who had undergone primary palate repair and were at least 4 years of age at the time of the speech evaluation were included in this review. The main outcome of this study was the incidence of fistulae and hypernasality following palatoplasty. A secondary outcome was the association of gender, age at the time of repair, and cleft type on the incidence of fistulae and hypernasality. RESULTS: A post-surgical fistula was present in 23.7% of the patients studied. Fistula rates were significantly higher in patients who had undergone repair of bilateral clefts of the lip and palate (40.9%) than for those patients who had undergone repair of a unilateral cleft lip and palate (16.9%) (p=0.02). Presence of a fistula was not associated with gender (p=0.99) or age at time of primary surgical repair (p=0.71). Mild hypernasality was noted in 15.3% of patients. Moderate or severe hypernasality was present in 66.5% of the patients and the remaining cases presented with normal resonance. Severe hypernasality was significantly higher in patients with a Veau IV type cleft as compared to patients with Veau III cleft types (p=0.04). There was a significantly higher incidence of hypernasality in boys than in girls (p<0.001). The association of age at the time of palatal repair and incidence of hypernasality was not significant (r=0.13, p=0.07). CONCLUSIONS: Overall, post-surgical complications were high in this cohort of patients who had undergone cleft palate repair by Isfahan Cleft Care Team during the study time frame. Therefore, there is a high priority need for increased training of best practices for the surgeons.

Investigation of TBX1 gene deletion in Iranian children with 22q11.2 deletion syndrome: correlation with conotruncal heart defects.

BACKGROUND: DiGeorge syndrome (DGS) is the result of a microdeletion in chromosome 22q11.2 in over 90% of cases. DGS is the second most frequent syndrome after Down syndrome and has an incidence of 1/4000 births. Unequal crossover between low-copy repeats, on the proximal part of the long arm of chromosome 22, usually results in a 3 Mb deletion in one of the chromosome 22 and a reciprocal and similarly sized duplication on the other one. Several studies have indicated that TBX1 (T-box 1) haploinsufficiency is responsible for many of the phenotypic traits of 22q11.2 deletion syndrome. Conotruncal heart defects (CTDs) are present in 75-85% of patients with 22q11.2 deletion syndrome in Western countries. METHODS: Among 78 patients fulfilling the criteria for DGS diagnosed by the fluorescence in situ hybridisation test, 24 had 22q11.2 deletion. Screening for TBX1 gene deletion was performed by multiplex ligation-dependent probe amplification (MLPA). RESULTS: Our results revealed that of 24 patients with TBX1 gene deletion, 12 had CTDs while 12 did not show any heart defects. CONCLUSIONS: Our findings indicate that other genes or gene interactions may play a role in penetrance or the severity of heart disease among patients with DGS.