22q11 Deletion Research Articles

17q12 Recurrent Deletions and Duplications: Description of a Case Series with Neuropsychiatric Phenotype.

Syndromic neurodevelopmental disorders are usually investigated through genetics technologies, within which array comparative genomic hybridization (Array-CGH) is still considered the first-tier clinical diagnostic test. Among recurrent syndromic imbalances, 17q12 deletions and duplications are characterized by neurodevelopmental disorders associated with visceral developmental disorders, although expressive variability is common. Here we describe a case series of 12 patients with 17q12 chromosomal imbalances, in order to expand the phenotypic characterization of these recurrent syndromes whose diagnosis is often underestimated, especially if only mild traits are present. Gene content and genotype-phenotype correlations have been discussed, with special regard to neuropsychiatric features, whose impact often requires etiologic analysis.

CTEV WITH MEGA URINARY BLADDER: A CASE REPORT

Congenital talipes equino varus (CTEV), also known as congenital club foot is one of the common developmental deformities occurring at ankle, subtalar and metatarsal joints. Three elements comprise this deformity- equinus, inversion of foot and adduction of the forefoot relative to the hind-foot and equinus. The incidence of the deformity is 1 per 1000 live births. 20% of cases are associated with distal arthrogryposis, congenital myotonic dystrophy, myelomeningocele, amniotic band sequence and genetic syndromes such as trisomy 18 or chromosome 22q11 deletion syndrome, in the remaining cases the deformity is isolated and the exact etiology is unknown. We are presenting a case of aborted male fetus of 20 weeks with congenital talipes equino varus in left foot with enlarged urinary bladder. The purpose of this report is to document the association of CTEV with enlarged urinary bladder.

Symptoms of Pediatric Feeding Disorders Among Individuals with 3q29 Deletion Syndrome: A Case-Control Study.

ABSTRACT:Objective:The goal of this study was to evaluate symptoms of pediatric feeding disorder in a sample of individuals with 3q29 deletion syndrome (3q29Del). Previous research has found that individuals with 3q29Del may experience elevated feeding concerns in early childhood; however, the specificity of these feeding concerns is not well understood.Methods:We compared individuals with 3q29Del (N = 83) with controls (N = 59) using an 11-item survey that assessed commonly reported symptoms associated with pediatric feeding disorders. An exploratory analysis also examined individuals with 3q29Del with and without a comorbid global developmental delay (GDD) or an autism spectrum disorder diagnosis.Results:Caregivers of 3q29Del cases reported higher incidences of feeding concerns on 10 of the 11 items included in the survey. This included statistically significant differences in food refusal behaviors, rejection of 1 or more food groups, and a history of failure to thrive. Parents of children with comorbid GDD were more likely to report concerns regarding food selectivity and problem behaviors during mealtime.Conclusion:The results suggest individuals with 3q29Del experience increased symptoms of pediatric feeding disorder that may require targeted evaluation and intervention for optimal outcomes. Future research should include a more thorough multidisciplinary evaluation to further elucidate symptom severity and optimal treatment strategies.

Incidence of New-Onset Obstructive Sleep Apnea After Posterior Flap Pharyngoplasty in Children.

Obstructive sleep apnea (OSA) is a well-recognized complication of velopharyngeal insufficiency (VPI) surgery, but studies assessing OSA by means of a respiratory polygraphy (PG) are scarce. The aim of the study was to evaluate the incidence of new-onset OSA after posterior flap pharyngoplasty (PFP). The postoperative PG of children with VPI who had a normal preoperative PG were analyzed. Eighteen patients (mean age, 9.8 ± 4.8 years; Pierre Robin sequence [n = 5], isolated cleft palate [n = 7], 22q11 deletion [n = 3], and 3 other diagnoses) were included in the study. Mean delay between surgery and the postoperative PG was 11.5 ± 13.5 months. Two patients (11%) developed severe OSA after PFP. One patient with 22q11 deletion developed overt OSA symptoms immediately after surgery with an apnea-hypopnea index (AHI) of 39 events per hour, requiring continuous positive airway pressure (CPAP) therapy. Obstructive sleep apnea improved spontaneously after 10 months, with an AHI of 2 events/h after CPAP weaning. The second patient had a cleft palate associated with a fetal alcohol syndrome and developed OSA symptoms after surgery with an AHI of 18 events/h requiring CPAP therapy. He could be weaned from CPAP 6 months later after a complete section of the pharyngeal flap with an AHI of 6 events/h during spontaneous breathing. New-onset OSA after PFP in children with VPI who had a normal preoperative PG was uncommon (11%) in the present cohort.

KOMMERELL DIVERTICULUM: A RARE BUT POTENTIALLY LIFE THREATENING ANOMALY

TOPIC: Cardiovascular Disease TYPE: Medical Student/Resident Case Reports INTRODUCTION: Kommerell diverticulum and aberrant subclavian artery are rare anomalies of the aortic branches in the upper mediastinum. We are presenting a case of a patient incidentally diagnosed with Kommerell diverticulum and aberrant left subclavian artery. CASE PRESENTATION: A 61-year-old male with hypertension and heart failure with preserved ejection fraction, presented to the cardiology clinic after overnight hospitalization for one episode of short-lasting midline chest and left arm pain while resting. He had a history of multiple episodes of non-exertional chest pain and exertional dyspnea, dysphagia and occasional wheezing. Stress test was negative for reversible perfusion defect and showed normal left ventricular ejection fraction. A recently performed transthoracic echocardiogram showed dilated aortic root and possible bicuspid aortic valve. Computed tomography angiogram (CTA) of aorta was performed for further evaluation. CTA aorta revealed a right sided aortic arch and aberrant left subclavian artery with a diverticulum of Kommerell. The patient is being closely followed up outpatient to prevent any potential complications. DISCUSSION: Aberrant left subclavian artery (ALSA) is seen in 0.05-0.1% population and a right aortic arch (aortic arch traversing over the right bronchus) is seen in 0.5% population. These anomalies can be associated with DiGeorge syndrome (deletion of chromosome 22q11.2) and conotruncal congenital heart disease. They can incompletely encircle the trachea and esophagus, creating a partial vascular ring and causing dyspnea, wheezing and dysphagia. In many cases, the ALSA arises from a vascular structure called Kommerell diverticulum (KD), most often derived from a remnant of the fourth aortic arch. KD is similar to the ascending aorta in diameter, and can compress the trachea and esophagus, producing the symptoms mentioned above. It can also cause complications like recurrent pneumonia, aortic dissection or fatal mediastinal hemorrhage from aneurysmal rupture of the diverticulum. CONCLUSIONS: Aneurysms of aberrant subclavian arteries need surgical and/or endovascular resection to decrease mortality. Hence, early diagnosis with close monitoring is crucial in patients with Kommerell diverticulum and aberrant subclavian artery. REFERENCE #1: Adams MT, Wilhelm M, Singh N, Andersen C. Right Aortic Arch With Kommerell Diverticulum: A Rare Cause of Dysphagia. JAMA Otolaryngol Head Neck Surg. 2014;140(6):560-562. doi:10.1001/jamaoto.2014.417 REFERENCE #2: Bhatt TC, Muralidharan CG, Singh G, Jain NK. Kommerell's diverticulum: A rare aortic arch anomaly. Med J Armed Forces India. 2016;72(Suppl 1):S80-S83. doi:10.1016/j.mjafi.2016.09.003 DISCLOSURES: No relevant relationships by surya Aedma, source=Web Response No relevant relationships by Pranav Mahajan, source=Web Response No relevant relationships by Riddhi Upadhyay, source=Web Response No relevant relationships by Karen Wiarda, source=Web Response

17q12 Deletion Syndrome Presenting as Congenital Diaphragmatic Hernia in a 2-Month-Old Infant

17q12 Deletion Syndrome Presenting as Congenital Diaphragmatic Hernia in a 2-Month-Old Infant

Risperidone in non‐epileptic attack disorder and chromosome 15q deletion syndrome

Chromosome 15q11.2 microdeletion is an emerging syndrome identified in individuals with Prader‐Willi syndrome and Angelman syndrome but also found in isolation. Here, the authors present a case of a 19‐year‐old woman with chromosome 15q11.2 microdeletion and her successful treatment with risperidone, a tailored positive behaviour support plan and with staff training around non‐epileptic attack disorder.

Bilateral anterior segment dysgenesis and persistent fetal vasculature associated with terminal 10q26 deletion

Deletion of the 26q position on chromosome 10 results in a syndrome with well-documented systemic phenotypes. There are few reports of ophthalmic manifestations in terminal 10q26 deletion. We report a 4-week-old boy with terminal 10q26 deletion who had extensive ophthalmic abnormalities, including bilateral anterior segment dysgenesis and bilateral persistent fetal vasculature, with microphthalmia, microcornea, iris corectopia, congenital cataracts, and posterior embryotoxon.

Diaphragmatic hernia in an infant with a type II distal deletion of 22q11.2 (LCR22E-F)

Diaphragmatic hernia in an infant with a type II distal deletion of 22q11.2 (LCR22E-F)

Identification of a Rare Case With Nagashima-Type Palmoplantar Keratoderma and 18q Deletion Syndrome via Exome Sequencing and Low-Coverage Whole-Genome Sequencing.

Nagashima-type palmoplantar keratoderma (NPPK) is characterized by non-progressive, diffuse, and cross-gradient hyperkeratosis caused by mutations in the SERPINB7 gene on chromosome 18q21.33. Chromosome 18q deletion syndrome (18q- syndrome) is a terminal deletion or microdeletion syndrome characterized by intellectual disability and congenital malformations. This paper describes an 18-year-old man with palmoplantar keratoderma and diffuse white matter abnormalities in the brain. Trio-based exome sequencing (ES) revealed a suspected mosaic compound heterozygous mutation for c.796C>T (p.Arg266∗) in exon 8 inherited from the mother and a de novo exons 4–6 deletion of SERPINB7. Additional copy number variant (CNV) analysis of the ES data indicated a heterozygous gross deletion of 18q22.3-q23. The two SERPINB7 gene variants were verified by Sanger sequencing and quantitative real-time polymerase chain reaction (qRT-PCR). Finally, low-coverage whole-genome sequencing (WGS) confirmed the 18q22.3-q23 deletion and additionally detected a mosaic 18q21.33-q22.3 deletion, together explaining NPPK and the neurological phenotypes of the proband. The gross deletion of all exons of SERPINB7 was revealed for the first time. More rarely, c.796C>T (p.Arg266∗) was likely to be mosaic, while the exon deletion was mosaic. In conclusion, the combination of multiple molecular genetic testing methods provides comprehensive informative molecular findings and promotes the diagnosis of complex diseases, as in this case.

15q26 deletion in a patient with congenital heart defect, growth restriction and intellectual disability: case report and literature review

Background15q26 deletion is a relatively rare chromosomal disorder, and it is described only in few cases. Patients with this aberration show many signs and symptoms, particularly pre- and postnatal growth restriction, developmental delay, microcephaly, intellectual disability and various congenital malformations.Case presentationWe report on a girl, 4 years old, of consanguineous parents, with a 15q26 deletion. Clinical manifestations included failure to thrive, developmental delay, microcephaly, dysmorphic facies with broad forehead, hypertelorism, narrowed eyelid slits and protruding columella. The patient also showed skeletal abnormalities, especially clinodactyly of the 5th finger, varus equine right foot and left club foot. Additionally, she had teething delay and divergent strabismus. Heart ultrasound displayed two atrial septal defects with left-to-right shunt, enlarging the right cavities. Routine cytogenetic analysis revealed a shortened 15q chromosome. Subsequent array analysis disclosed a terminal 9.15 Mb deletion at subband 15q26.1-q26.3. Four candidate genes associated with 15q26 deletion phenotype were within the deleted region, i.e. IGF1R, NR2F2, CHD2 and MEF2A.ConclusionWe report on an additional case of 15q26 monosomy, characterized by array-CGH. Molecular cytogenetic analysis allowed us to identify the exact size of the deletion, and four candidate genes for genotype-phenotype correlation. 15q26 monosomy should be considered when growth retardation is associated with hearing anomalies and congenital heart defect, especially atrioventricular septal defects (AVSDs) and/or aortic arch anomaly (AAA).

Cytogenomic characterization of a de novo 4q34.1 deletion in a girl with mild dysmorphic features and a coagulation disorder

Background4q deletion syndrome is a rare chromosomal disorder that mostly arises de novo. The syndrome is characterized by craniofacial dysmorphism, digital abnormalities, skeletal alterations, heart malformations, developmental delay, growth retardation, Pierre Robin sequence, autistic spectrum and attention deficit-hyperactivity disorder, although not every patient shows the same features. Array comparative genomic hybridization (aCGH) use improves the detection of tiny chromosomal deletions and allows for a better understanding of genotype–phenotype correlations in affected patients. We report the case of a 6-year-old female patient showing mild dysmorphic features, mild mental disabilities and a coagulation disorder as a consequence of a de novo del(4)(q34.1) characterized by aCGH.Case presentation A 6-year-old female patient exhibited special craniofacial features, such as backward-rotated ears, upslanted palpebral fissures, broad nasal bridges, anteverted nares, broad nasal alae, smooth philtrums, smooth nasolabial folds, thin lips, horizontal labial commissures, and retrognathia. In the oral cavity, maxillary deformation, a high arched palate, agenesis of both mandibular canines and fusion of two mandibular incisors were observed. She also displayed bilateral implantation of the proximal thumbs, widely spaced nipples, dorsal kyphosis, hyperlordosis, and clitoral hypertrophy. In addition, the patient presented with coagulopathy, psychomotor delay, attention deficit-hyperactivity disorder, and mild mental disability. A chromosomal study showed the karyotype 46,XX,del(4)(q34.1), while an aCGH analysis revealed an 18.9 Mb deletion of a chromosome 4q subtelomeric region spanning 93 known genes.ConclusionThe clinical manifestations of this patient were similar to those reported in other individuals with 4q deletion syndrome. Although most of the patients with a 4q34 terminal deletion share similarities, variations in phenotype are also common. In general, clinical effects of chromosomal deletion syndromes depend on the length of the deleted chromosomal segment and, consequently, on the number of lost genes; however, in all of these syndromes, there is no simple correlation between the phenotype and the chromosomal region involved, particularly in cases of 4q deletion.

22q11 Deletion Syndrome: Neonatal Workup and Childhood Follow-up

The International Journal of Integrated Care (IJIC) is an online, open-access, peer-reviewed scientific journal that publishes original articles in the field of integrated care on a continuous basis.IJIC has an Impact Factor of 5.120 (2020 JCR, received in June 2021)

FISH diagnostics in plasma cell myeloma: recommendations and own experience

Plasma cell myeloma (PCM) is disease with heterogeneous clinical outcomes. It is increasingly evident that the genetic features of the tumor cells largely dictate the clinical heterogeneity of PCM. Primary chromosomal alterations in myeloma can be divided into hyperdiploid and non-hyperdiploid subtypes. Secondary chromosomal changes occur during progression of disease. Cytogenetic abnormalities are important prognostic markers in PCM and some of them were incorporated into the current prognostic staging system of PCM. The presence of t(4;14), t(14;16), t(14;20), gain of 1q or TP53 deletion is considered to be high-risk myeloma. Detection of these alterations can be performed by interphase fluorescence in situ hybridization (FISH) after separation or identification of the plasma cells. The proper FISH examination in myeloma has to meet further requirements regarding aspirating and timing of samples, probe selection and their cut-off levels, the criteria of accurate analysis and reporting. Based on the literature, we here present technical recommendations regarding FISH in PCM. Furthermore, we share our own experience in FISH diagnostics acquired over 12 years. In this period, we have performed nearly 2,050 FISH tests in 603 myeloma patients and used two different methods of myeloma FISH: FISH on immunolabeled plasma cells, and target FISH with the BioView system.

The Spectrum of the Prader-Willi-like Pheno- and Genotype: A Review of the Literature.

Prader-Willi syndrome (PWS) is a rare genetic syndrome, caused by the loss of expression of the paternal chromosome 15q11-q13 region. Over the past years, many cases of patients with characteristics similar to PWS, but without a typical genetic aberration of the 15q11-q13 region, have been described. These patients are often labelled as Prader-Willi-like (PWL). PWL is an as-yet poorly defined syndrome, potentially affecting a significant number of children and adults. In the current clinical practice, patients labelled as PWL are mostly left without treatment options. Considering the similarities with PWS, children with PWL might benefit from the same care and treatment as children with PWS. This review gives more insight into the pheno- and genotype of PWL and includes 86 papers, containing 368 cases of patients with a PWL phenotype. We describe mutations and aberrations for consideration when suspicion of PWS remains after negative testing. The most common genetic diagnoses were Temple syndrome (formerly known as maternal uniparental disomy 14), Schaaf-Yang syndrome (truncating mutation in the MAGEL2 gene), 1p36 deletion, 2p deletion, 6q deletion, 6q duplication, 15q deletion, 15q duplication, 19p deletion, fragile X syndrome, and Xq duplication. We found that the most prevalent symptoms in the entire group were developmental delay/intellectual disability (76%), speech problems (64%), overweight/obesity (57%), hypotonia (56%), and psychobehavioral problems (53%). In addition, we propose a diagnostic approach to patients with a PWL phenotype for (pediatric) endocrinologists. PWL comprises a complex and diverse group of patients, which calls for multidisciplinary care with an individualized approach.

Association of Combined Focal 22q11.22 Deletion and IKZF1 Alterations With Outcomes in Childhood Acute Lymphoblastic Leukemia.

Alterations in the IKZF1 gene drive B-cell acute lymphoblastic leukemia (B-ALL) but are not routinely used to stratify patients by risk because of inconsistent associations with outcomes. We describe a novel deletion in 22q11.22 that was consistently associated with very poor outcomes in patients with B-ALL with IKZF1 alterations. To determine whether focal deletions within the λ variable chain region in chromosome 22q11.22 were associated with patients with B-ALL with IKZF1 alterations with the highest risk of relapse and/or death. This cohort study included 1310 primarily high-risk pediatric patients with B-ALL who were taken from 6 independent clinical cohorts, consisting of 3 multicenter cohorts (AALL0232 [2004-2011], P9906 [2000-2003], and patients with Down syndrome who were pooled from national and international studies) and 3 single-institution cohorts (University of Utah [Salt Lake City], Children's Hospital of Philadelphia [Philadelphia, Pennsylvania], and St. Jude Children's Hospital [Memphis, Tennessee]). Data analysis began in 2011 using patients from the older studies first, and data analysis concluded in 2021. Focal 22q11.22 deletions. Event-free and overall survival was investigated. The hypothesis that 22q11.22 deletions stratified the prognostic effect of IKZF1 alterations was formulated while investigating nearby deletions in VPREB1 in 2 initial cohorts (n = 270). Four additional cohorts were then obtained to further study this association (n = 1040). This study of 1310 patients with B-ALL (717 male [56.1%] and 562 female patients [43.9%]) found that focal 22q11.22 deletions are frequent (518 of 1310 [39.5%]) in B-ALL and inconsistent with physiologic V(D)J recombination. A total of 299 of 1310 patients with B-ALL had IKZF1 alterations. Among patients with IKZF1 alterations, more than half shared concomitant focal 22q11.22 deletions (159 of 299 [53.0%]). Patients with combined IKZF1 alterations and 22q11.22 deletions had worse outcomes compared with patients with IKZF1 alterations and wild-type 22q11.22 alleles in every cohort examined (combined cohorts: 5-year event-free survival rates, 43.3% vs 68.5%; hazard ratio [HR], 2.18; 95% CI, 1.54-3.07; P < .001; 5-year overall survival rates, 66.9% vs 83.9%; HR, 2.05; 95% CI, 1.32-3.21; P = .001). While 22q11.22 deletions were not prognostic in patients with wild-type IKZF1 , concomitant 22q11.22 deletions in patients with IKZF1 alterations stratified outcomes across additional risk groups, including patients who met the IKZF1plus criteria, and maintained independent significance in multivariate analysis for event-free survival (HR, 2.05; 95% CI, 1.27-3.29; P = .003) and overall survival (HR, 1.83; 95% CI, 1.01-3.34; P = .05). This cohort study suggests that 22q11.22 deletions identify patients with B-ALL and IKZF1 alterations who have very poor outcomes and may offer a new genetic biomarker to further refine B-ALL risk stratification and treatment strategies.

Unilateral acromial dimple in an infant: A case report and review of the literature

Skin depressions overlying the area of the acromion process of the scapula are known as acromial dimples. They are rare in occurrence and usually tend to be bilateral. A unilateral acromial dimple is even rarer and has not been published in the literature so far. Here, we present the case of a unilateral acromial dimple in a 1-month-old male infant who presented to the clinic with a persistent skin lesion on his posterior left shoulder since birth. On examination, he had a solitary dimple overlying the left acromion process. He had a full range of motion of the left upper extremity without weakness or discomfort. Acromial dimples have been described to occur with 18q deletion syndrome, Apert syndrome, and Say syndrome. Acromial dimple when found in isolation without affecting the upper extremity movement does not require further management.

Caregiver Perspectives on a Child's Diagnosis of 3q29 Deletion: "We Can't Just Wish This Thing Away".

Genetic diagnoses are increasingly common in cases of intellectual disability and developmental delay. Although ascertainment of a relatively common, well-studied variant may provide guidance related to treatments and developmental expectations, it is less clear how the diagnosis of a rare variant affects caregivers, especially when the phenotype may include later-onset manifestations such as psychosis. In this study, we sought to identify caregiver concerns in the first qualitative study to assess the psychosocial impact of diagnosis on caregivers of individuals with 3q29 deletion syndrome (3q29Del), which is associated with a 40-fold increase in risk for psychosis. Participants were recruited from the national 3q29Del registry housed at Emory University (3q29deletion.org). Fifteen participants completed a semistructured phone interview during which they were asked about their experiences before, during, and after their child received a diagnosis of 3q29Del. Interview responses were analyzed using the general inductive approach, and overarching themes were identified. We identified the following overarching themes: difficult "diagnostic odyssey," mixed feelings about diagnosis, frustration with degree of uncertainty, and importance of resources. Importantly, our data suggest that future risk for psychosis is often not disclosed by medical professionals, consistent with the experience of individuals with 22q11.2 deletion syndrome. These results highlight potential gaps in how caregivers are informed of risk for adult-onset conditions and indicate key caregiver concerns for consideration in the diagnosis of 3q29Del.

Goyal-Naqvi Syndrome (Concurrent Trisomy 10p and Terminal 14q Deletion): A Review of the Literature.

Goyal-Naqvi syndrome (GNS) is a newly documented clinical entity that comprises trisomy 10p and terminal 14q deletion, though trisomy 10p and terminal 14q deletion have been discovered as distinct conditions in 1974 and 1997, respectively. Nevertheless, to date, the total number of reported cases of each of these conditions is estimated to be in double digits. Both manifest as a constellation of features like craniofacial dysmorphism, hypotonia, intellectual impairment and global developmental delay. Characteristic facies include protruded forehead, hypertelorism, epicanthic folds, down slanting palpebral fissures, flat nasal bridge, long philtrum, thin upper lip, carp-shaped mouth, retro-micrognathia and low set ears. Besides, trisomy 10p is strikingly associated with clinodactyly and camptodactyly which aids in clinical diagnosis, apart from other musculoskeletal deformities like hip dysplasia and pes planus. Intersex conditions have been found to commonly co-exist. As other systems also display involvement frequently, trisomy 10p is a discernible multiple congenital anomalies/mental retardation (MCA/MR) syndrome. On the other hand, with terminal 14q deletion, increased risk of certain types of cancer was predicted as specific tumor suppressor genes are lost in the deletion and thus, screening was recommended. Genetic workup using techniques like fluorescence in situ hybridization (FISH), spectral karyotyping (SKY) and chromosomal microarray-based comparative genomic hybridization (CGH) was found to be helpful in diagnosis of trisomy 10p and 14q deletion. Prenatal diagnosis of these conditions has been well documented too. Intrauterine growth retardation has been observed to be related to trisomy 10p. There is a paucity of literature on the management of children diagnosed with trisomy 10p or with terminal 14q deletion. Although management of a child diagnosed with concomitant occurrence of trisomy 10p and terminal 14q deletion by a multidisciplinary approach emphasizing physiotherapeutic intervention has shown remarkable improvement in motor skills, the care of children diagnosed with these genetic aberrations needs further investigation. Documentation of more such cases will help to expand phenotypic spectrum for early identification and to delineate natural history for a life span approach. Early identification and intervention facilitate tapping of the maximum neuroplastic potential for better neurodevelopmental outcomes. We present a review of current literature on this novel syndrome to identify gaps in knowledge to build future research.

Terminal 10q26.12 deletion is associated with neonatal asymmetric crying facies syndrome: a case report and literature review

BackgroundThe terminal 10q26 deletion syndrome is a clinically heterogeneous disorder without identified genotype–phenotype correlations. We reported a case of congenital asymmetric crying facies (ACF) syndrome with 10q26.12qter deletion and discussed their genotype–phenotype correlations and the potentially contributing genes involving the etiology of ACF.Methods and resultsWe reported a case of neonatal 10q26.12qter deletion and summarized the genotype–phenotype correlations and contributing genes of 10q26.12qter deletion from DECIPHER database and published studies. Meanwhile, we analyzed the potential pathogenic genes contributing to 10q26 deletion syndrome. The female preterm infant harboring 10q26.12qter deletion showed symptoms of abnormal craniofacial appearance with rare congenital asymmetric crying facies, developmental retardation, congenital heart disease, and pulmonary artery hypertension. The deleted region was 13.28 Mb in size as detected by G-banding and array comparative genome hybridization, containing 62 Online Mendelian Inheritance in Man (OMIM) catalog genes. We summarized data from 17 other patients with 10q26.12qter deletion, 11 from the DECIPHER database and 6 from published studies. Patients with monoallelic WDR11 and FGFR2 deletions located in 10q26.12q26.2 were predisposed to craniofacial dysmorphisms, growth retardation, intellectual disability and cardiac diseases.ConclusionACF is a facial dysmorphism frequently accompanied by other systemic deformities. It is a genetic abnormality that may associate with terminal 10q26.12 deletion. Early cardiac, audiologic, cranial examinations and genetic detection are needed to guide early diagnosis and treatment strategy.