Stereotyped behaviors are also present and these are similar to Rett syndrome or Angelman syndrome. [scielo.br]

Rather, it has a highly variable presentation that may include, as demonstrated in the neuropsychological profile of the present patient, high average intelligence and social cognitive dysfunctions referring to Asperger’s syndrome. [dovepress.com]

Microdeletion 16p11.2 (Group 1) explains all the clinical features presented by our patient. [iris.unimore.it]

Obesity, a major comorbidity present in 50% of the carriers by the age of 7 years, does not correlate with FSIQ or any behavioural trait. Seizures are present in 24% of carriers and occur independently of other symptoms. [jmg.bmj.com]

Despite the limited number of cases described here, presenting the complete developmental history and progression of the symptoms will help better understand the nature and presentation of the syndrome throughout development and thereby assist in accurate [journals.lww.com]

• Disability

  Family history: Fibromyalgic mother, two maternal cousins with psycho-motor delay, paternal uncle with epilepsy and intellectual disability. [iris.unimore.it]

  Most affected individuals do not have intellectual disability (defined as an IQ of <70), but many have below average cognition and learning disabilities in both verbal and nonverbal domains. [ncbi.nlm.nih.gov]

  When last seen, aged 8 years, she had a moderate intellectual disability (ID) and poor speech. She was hyperactive with short attention span and difficulty in concentration, but, based on formal testing, did not have autism. [moh-it.pure.elsevier.com]

  Introduction Developmental delay and intellectual disability can occur in people with a 16p11.2 duplication. Approximately one-third of children with this condition have delays in developing physical skills such as sitting, crawling, or walking. [encyclopedia.pub]

• Developmental Delay

  Motor delay MedGen UID: 381392 •Concept ID: C1854301 • Finding A type of Developmental delay characterized by a delay in acquiring motor skills. [ncbi.nlm.nih.gov]

  Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications. [tremorjournal.org]

  A copy number variation morbidity map of developmental delay. Nat Genet. 2011;43(9):838–846. 18. Kirov G, Pocklington AJ, Holmans P, et al. [dovepress.com]

  Introduction Developmental delay and intellectual disability can occur in people with a 16p11.2 duplication. Approximately one-third of children with this condition have delays in developing physical skills such as sitting, crawling, or walking. [encyclopedia.pub]

• Feeding Difficulties

  The 16p11.2 recurrent deletion phenotype is characterized by motor speech disorder, language disorder, motor coordination difficulties, psychiatric conditions, and autistic features. [ncbi.nlm.nih.gov]

  Patients with this deletion have ID, learning disabilities, growth retardation, thin and sparse hair, feeding difficulties, cleft lip/palate and multiple dysmorphic features. [scielo.br]

• Failure to Thrive

  Patients may have osteopoikilosis, low weight, failure to thrive and learning problems. The HMGA2 gene is involved in the growth deficiency. 12q24.31 Deletion. [scielo.br]

• Macrocephaly

  Vertebral anomalies, hearing impairment, macrocephaly, and cardiovascular malformation have each been observed in some individuals. [ncbi.nlm.nih.gov]

  The deletion is characterized by macrocephaly, overgrowth and ophthalmologic and gastrointestinal disturbances. Duplication has short stature and microcephaly. [scielo.br]

  Obese deletion carriers show an increased frequency of macrocephaly when compared to non-obese carriers (32% and 10%, respectively; p=1.8×10−3). [jmg.bmj.com]

  For example, MAPK3 is a key component of MAPK/ERK pathway associated with ASD-related features in mice models.5 Deficiency of the KCTD13 ortholog in zebrafish resulted in macrocephaly.5 And both Kctd13-deficient and Taok2-deficient mice displayed cognitive [ng.neurology.org]

• Small Hand

  This deletion is characterized by growth retardation, microcephaly, small hands and feet (with brachydactyly), dysmorphic facies, small ears, micrognathia, short nose with bulbous tip and severe ID. [scielo.br]

• Thin Fingers

  On examination, there were a flat face; low-set, posteriorly rotated ears; high-arched palate; hypotonic face; right single palmar crease; long, thin fingers; and a sacral dimple. [moh-it.pure.elsevier.com]

• Hearing Impairment

  Vertebral anomalies, hearing impairment, macrocephaly, and cardiovascular malformation have each been observed in some individuals. [ncbi.nlm.nih.gov]

• Low-Set Posteriorly Rotated Ears

  On examination, there were a flat face; low-set, posteriorly rotated ears; high-arched palate; hypotonic face; right single palmar crease; long, thin fingers; and a sacral dimple. [moh-it.pure.elsevier.com]

• Suggestibility

  The presence of obesity, in absence of involvement of the gene recognized as causative of the same, suggests that the deletion in question affects a gene region involved in the predisposition to obesity, not yet described in the literature. [iris.unimore.it]

  Clinical follow-up data from adults suggests that the greatest medical challenges are obesity and related comorbidities that can be exacerbated by medications used to treat behavioral and psychiatric problems. [ncbi.nlm.nih.gov]

  Parental aCGH analysis indicated that this duplication was paternally inherited, suggesting that it is likely a benign familial copy number variant (CNV). [tremorjournal.org]

  [Ballif et al. (2007); Nat Genet 39:1071-1073], and further characterizes the new microdeletion syndrome of 16p11.2-p12.2. aCGH suggests that the deletions of all cases share the same distal breakpoint. [moh-it.pure.elsevier.com]

  It is suggested that this CNV has pleiotropic effects, given that it intersects multiple genes. [journals.lww.com]

• Hypertelorism

  Hypertelorism MedGen UID: 9373 •Concept ID: C0020534 • Finding Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. [ncbi.nlm.nih.gov]

  The highly recognizable facial features are hypertelorism, midface hypoplasia, prognathism, prominent eyebrows, cupid bow or tented upper lip and everted lower lip. [scielo.br]

• Seizure

  Seizure MedGen UID: 20693 •Concept ID: C0036572 • Sign or Symptom A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal [ncbi.nlm.nih.gov]

  […] or seizures had resolved with age. [journals.lww.com]

  ID, speech delay, behavioral problems, seizures and ASD. [scielo.br]

  Some people with this disorder have recurrent seizures (epilepsy). Some affected individuals have minor physical abnormalities such as low-set ears or partially webbed toes (partial syndactyly). [medlineplus.gov]

• Global Developmental Delay

  […] speech and language development Global developmental delay Motor delay Seizure IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. [ncbi.nlm.nih.gov]

  Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size. J Med Genet. 2010; 47:332–341 Stankiewicz P, Lupski JR. [journals.lww.com]

  Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size. [tremorjournal.org]

• Speech Disorder

  The 16p11.2 recurrent deletion phenotype is characterized by motor speech disorder, language disorder, motor coordination difficulties, psychiatric conditions, and autistic features. [ncbi.nlm.nih.gov]

  Patients with this deletion present with speech delay and ID. The deletion includes CNTNAP2, a gene that has previously been found in children with speech disorders. Chromosome 8 8p21 Deletion. [scielo.br]

• Ataxia

  The patient showed short stature, ID, severe hypotonia, ataxia, premature pubarche and dysmorphic features. 19p13.12 Deletion. [scielo.br]

  Clinical and genetic overview of paroxysmal movement disorders and episodic ataxias. Int J Mol Sci. 2020;21:3603. [PMC free article: PMC7279391] [PubMed: 32443735] Ghebranious N, Giampietro PF, Wesbrook FP, Rezkalla SH. [ncbi.nlm.nih.gov]

  […] which patients are unable to relax their muscles during exercise,26 and its homologue, ATP2A2, has been implicated in neuropsychiatric phenotypes.27 In addition, ATXN2L (although unknown in function) encodes a protein belonging to the spinocerebellar ataxia [jamanetwork.com]

• Delayed Speech and Language Development

  speech and language development Global developmental delay Motor delay Seizure IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. [ncbi.nlm.nih.gov]

A case report Articolo in rivista Vai 2019 GH successful treatment in a female with a de novo 46,XX,add(X)(p36),t(X;Y)(p36.3;p11.2), growth impairment and SHOX-haploinsufficiency Lettera Vai 2019 Fetal growth restriction: A growth pattern with fetal, [unipa.it]

Treatment data were available in two cases, both of which had a very good response to carbamazepine. Parkinsonism in the first case responded well to low dose levodopa (200 mg/day). [tremorjournal.org]

Early identification is therefore vital to allow appropriate medical and neuropsychiatric screening, support and treatment throughout the lifespan. [journals.lww.com]

Treatment with antidepressants and antipsychotics was given, without any effect. [dovepress.com]

Patients have abnormalities in pituitary hormones similar to the hypothalamic Laron syndrome but are unresponsive to GH treatment. 3q13.31 Deletion. [scielo.br]

PMID: 27861764 Prognosis Hempel M, Rivera Brugués N, Wagenstaller J, Lederer G, Weitensteiner A, Seidel H, Meitinger T, Strom TM Am J Med Genet A 2009 Oct;149A(10):2106-12. doi: 10.1002/ajmg.a.33042. [ncbi.nlm.nih.gov]

Articolo in rivista Vai 2018 SLIT’s Prevention of the Allergic March Articolo in rivista Vai 2018 Symptomatic seizures in preterm newborns: a review on clinical features and prognosis Review essay (rassegna critica) Vai 2018 An Appeal for Implementing [unipa.it]

[…] difficulties in infancy Abnormality of the eye Hypertelorism Abnormality of the musculoskeletal system Macrocephaly Micrognathia Abnormality of the nervous system Delayed speech and language development Global developmental delay Motor delay Seizure Etiology [ncbi.nlm.nih.gov]

[…] recently identified to cause PKD.3 The proximal ∼600 kb breakpoints 4 and 5 16p11.2 microdeletion (16p11.2MD) (29.6–30.2 Mb–hg19, including PRRT2) could be a cause of PKD accompanied by other clinical features.4 The 16p11.2MD is one of the most common etiologies [ng.neurology.org]

Neocortical neurogenesis and the etiology of autism spectrum disorder. Neurosci Biobehav Rev. 2016; 64:185–195 Pucilowska J, Vithayathil J, Tavares EJ, Kelly C, Karlo JC, Landreth GE. [journals.lww.com]

Articolo in rivista Vai 2018 Etiological heterogeneity and clinical variability in newborns with esophageal atresia Articolo in rivista Vai 2017 Impact of Candida species colonization and azoles resistance in a neonatal intensive care unit Proceedings [unipa.it]

Articolo in rivista Vai 2021 Epidemiology, Clinical Features and Prognostic Factors of Pediatric SARS-CoV-2 Infection: Results From an Italian Multicenter Study Articolo in rivista Vai 2021 Prognostic factors and predictors of outcome in children with [unipa.it]

This deletion includes the MBD5 gene, which is implicated in the pathophysiology of seizures. Stereotyped behaviors are also present and these are similar to Rett syndrome or Angelman syndrome. [scielo.br]

Lettera Vai 2017 Preventive Effect of Cow's Milk Fermented with Lactobacillus paracasei CBA L74 on Common Infectious Diseases in Children: A Multicenter Randomized Controlled Trial. [unipa.it]

The dashed lines represent the 3rd and 97th Center for Disease Control and Prevention (CDC) centile, while the dotted lines pinpoint the thresholds for underweight (BMI=18.5), obesity (30), and morbid obesity (40). [jmg.bmj.com]