CASE PRESENTATION Chief complaints An 18-mo girl accompanied by her father and mother, presented to the Ophthalmology Department in August 2018. Her parents complained about her strabismus for more than 6 mo (Figure 1A). [wjgnet.com]

• Inguinal Hernia

  hernia - - - - - - Brain Thinning of the corpus callosum, Bilateral ventricle dilation Corpus callosumagenesis - - Thinning of the corpus callosum and splenium - Cortical atrophy agenesis of the corpus callosum + - Seizures - - - - - - + + - Skeletal [wjgnet.com]

• Tall Stature

  Major features of 19p13.13 deletion syndrome include an unusually large head size (macrocephaly), tall stature, delayed development of speech and motor skills (such as sitting and walking), and intellectual disability that is usually moderate in severity [medlineplus.gov]

  stature − − − − + + + − Follow-up 16 years 15 months 3 years 2 years, 3 months 3 years, 2 months 3 years 14 years* 5 years, 4 months The other two cases reported for a pure 19q duplication, have an incomplete cytogenetics definition or a mosaic duplication [ncbi.nlm.nih.gov]

• Weakness

  From a psycho-dynamic perspective, these events fit into the context of a very weak “Self”, with an affective immaturity and lack of emotional auto-regulation; as a consequence of that, fluctuations between maniacal excitement and anguish states with [ncbi.nlm.nih.gov]

• Tachypnea

  No major medical problems were observed during the neonatal period except for transitory tachypnea. Growth has always been normal in height and weight, while head circumference showed macrocephaly. [ncbi.nlm.nih.gov]

• Macrostomia

  The image of 1 of such patients is shown in figure, A, showing a child with signs of macrostomia, mid-face hypoplasia, and progenia. [ng.neurology.org]

• Malocclusion

  […] months of age showed: a preferential use of onomatopoeic sounds and a few words combined in simple sentences of some terms, without verbs; deficit in articulation movements and coordination; use of gestures to denominate; discrete verbal comprehension; malocclusion [ncbi.nlm.nih.gov]

• Strabismus

  We found that strabismus was present in some of these cases, indicating that the pathogenic genes fundamental for the strabismus phenotype might be associated with chromosome 19q duplications. [wjgnet.com]

• Esotropia

  Bhat et al[10] reported the first case of small de novo duplication of 19q (13.3-13.4) with comitant esotropia, and our patient was also found to have esotropia in 19q (13.2-13.31). [wjgnet.com]

• Small Eyes

  Shaheen et al[21] reported two unrelated consanguineous families of Arab origin in which 5 patients had a heart and brain malformation syndrome, including hypertelorism, small eyes, and poor vision. [wjgnet.com]

• Mid-Face Hypoplasia

  The image of 1 of such patients is shown in figure, A, showing a child with signs of macrostomia, mid-face hypoplasia, and progenia. [ng.neurology.org]

• Suggestibility

  Want to suggest a symptom? Please send suggestions to RareGuru! [rareguru.com]

  The phenotypic features in Class II are suggested to be milder including mild developmental and psychomotor delay [3]. [hindawi.com]

  Figure 3 Array comparative genomic hybridization analysis performed suggests a mosaic gain of 19q. A: Array comparative genomic hybridization (aCGH) data profile in whole chromosomes. [wjgnet.com]

  Array comparative genomic hybridization analysis performed suggests a mosaic gain of 19q. A: Array comparative genomic hybridization (aCGH) data profile in whole chromosomes. [ncbi.nlm.nih.gov]

• Behavior Disorder

  It was proposed that long term follow up analysis should be guaranteed till adulthood to determine whether there will be other emerging clinical symptoms and developmental-behavioral disorders for such carriers. [molecularcytogenetics.biomedcentral.com]

  […] problems as well as social communication, and behavioral disorders of the autism spectrum disorder.5 We considered only DECIPHER entries with positive submitter contact. [ng.neurology.org]

  During adolescence, his capability to interact with peers and parents worsened, due to atypical alteration of his psychological development, characterized by emotional and behavioral disorder (EBD). [ncbi.nlm.nih.gov]

• Aggressive Behavior

  The main features of his disease were an increased level of impulsivity, agitation crisis with aggressive reactions, kleptomania and compulsive behaviors. [ncbi.nlm.nih.gov]

• Compulsive Behavior

  The main features of his disease were an increased level of impulsivity, agitation crisis with aggressive reactions, kleptomania and compulsive behaviors. [ncbi.nlm.nih.gov]

• Neglect

  Comitant esotropia is often accompanied by amblyopia (uniocular visual neglect), a leading cause of visual impairment in children and young adults. The pathogenesis of comitant esotropia remains largely unknown. [wjgnet.com]

• Cerebellar Ataxia

  XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia. Nature. 2017;541:87-91. [wjgnet.com]

  XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia. Nature. 2017;541:87–91. [PMC free article] [PubMed] [Google Scholar] 21. [ncbi.nlm.nih.gov]

• Behavior Problem

  Similarly, we acknowledge that DD, behavioral problems, and learning difficulties may be subject to interobserver variability to some extent. [ng.neurology.org]

  Moreover, toward the end of the school cycle, behavioral problems began, such as oppositional traits, impulsiveness, together with integration and relationship problems among peers. [ncbi.nlm.nih.gov]

• Apathy

  After a short period, the treatment was suspended as the proband showed collateral effects: sedation, apathy, lack of appetite with loss of weight. [ncbi.nlm.nih.gov]

• Febrile Seizures

  Of all the phenotypes evaluated, mild but distinct dysmorphic features were the most frequent (n = 8), followed by seizures (n = 6, including generalized tonic and febrile seizures), ID (n = 5), and DD (n = 4). [ng.neurology.org]

[PubMed] [Google Scholar] Articles from Neuropsychiatric Disease and Treatment are provided here courtesy of Dove Press [ncbi.nlm.nih.gov]

He has been able to catch up in growth without the use of growth hormone treatment. The patient is not currently taking any medications. [frontiersin.org]

She had constipation, which required treatment with a laxative. Otherwise she was a healthy child with no behavioural problems and no history of seizures. [jmg.bmj.com]

TREATMENT She underwent bilateral medial rectus recession of 6.0 mm at the age of 18 mo. Forced duction tests were performed intraoperatively and showed no mechanical force or restriction of the extraocular muscles. [wjgnet.com]

Developmental delay is common (table 1) and the prognosis usually poor owing to the severity of the anomalies. [jmg.bmj.com]

[…] patients were various and included growth retardation, developmental delay, intellectual disability, microcephaly, heart malformations, anomalies of the genito-urinary tract and/or the gastrointestinal system and seizures, which usually led to poor prognosis [molecularcytogenetics.biomedcentral.com]

Muhammad Ayub and Xudong Liu}, journal={Cold Spring Harbor Molecular Case Studies}, year={2020}, volume={6} } Pleiotropy and variable expressivity have been cited to explain the seemingly distinct neurodevelopmental disorders due to a common genetic etiology [semanticscholar.org]

As is known, the zinc finger proteins (ZNFs) are the largest transcription factor family in human genome, which contain finger-like protrusions and play critical roles in physiological and pathophysiological mechanisms [26]. [molecularcytogenetics.biomedcentral.com]