It is important to note that exceptions may also occur, where individuals with small amount of chromosomal loss, may have disproportionately severe presentations. [dovemed.com]

Case Presentation: The 4-year-old Omani girl presented to the National Genetic Center with the following clinical features: GDD, hypotonia, multiple congenital anomalies, facial dysmorphism, and skeletal anomalies. [bibliomed.org]

The clinical presentation of our patient was compatible with what has been presented in the literature, which is summarized in Table 2 [1,3,6,9-17]. [cureus.com]

Growth parameters, weight and head circumference of both patients have remained below the third centile, recent measurements are presented in table 1. [jmg.bmj.com]

Results: A 4-year-old girl presented to the neurology clinic for evaluation of developmental delay. She had expressive language delay, cognitive delay and poor interpersonal skills. She also showed abnormal behaviors with emotional dysregulation. [n.neurology.org]

• Developmental Delay

  Global developmental delay Psychomotor developmental delay, Psychomotor retardation, Developmental delay, Lack of psychomotor development, Cognitive delay, Delayed intellectual development, Delayed milestones, Psychomotor development deficiency, Developmental [rarediseases.oscar.ncsu.edu]

  delays, overgrowth, and distinctive features with big head appearances. [semanticscholar.org]

  Among the reported cases, common clinical manifestations have included developmental delay, facial dysmorphism, and hypotonia. [go.gale.com]

  Abstract Background: This report provides a molecular cytogenetic characterization of an Omani girl with 19p13.12 microdeletion and compares her clinical features of global developmental delay (GDD) and multiple congenital anomalies with the gene mutations [bibliomed.org]

• Disability

  Evaluating the Role of MAST1 as an Intellectual Disability Disease Gene: Identification of a Novel De Novo Variant in a Patient with Developmental Disabilities. Ben-Mahmoud A, Al-Shamsi AM, Ali BR, Al-Gazali L. Ben-Mahmoud A, et al. [pubmed.ncbi.nlm.nih.gov]

  Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70. [rarediseases.oscar.ncsu.edu]

  Introduction Features commonly associated with this chromosomal change include an unusually large head size (macrocephaly), tall stature, and intellectual disability that is usually moderate in severity. [encyclopedia.pub]

  Features commonly associated with this chromosomal change include an unusually large head size (macrocephaly), tall stature, and intellectual disability that is usually moderate in severity. [medlineplus.gov]

  In addition to developmental disabilities, the microdeletion manifested in overgrowth, macrocephaly, and ophthalmologic and gastrointestinal findings; in contrast, the single microduplication manifested in growth delay and microcephaly. [neuro.unboundmedicine.com]

• Pain

  Abdominal pain Gastro pain, Gastrointestinal pain, Stomach pain, Abdominal discomfort [more] An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen. [rarediseases.oscar.ncsu.edu]

  Many affected individuals have problems with feeding and digestion, including constipation, diarrhea, vomiting, and abdominal pain. Eye problems that can impair vision are also common. [encyclopedia.pub]

  […] difficulties Abnormal facial features that include: Large-sized head and forehead Almond-shaped eyes Eyebrows that meet at the center Low-set ears Upturned nose High-arched palate Small mouth Children are known to grow tall Feeding difficulties Abdominal pain [dovemed.com]

• Abdominal Pain

  Many affected individuals have problems with feeding and digestion, including constipation, diarrhea, vomiting, and abdominal pain. Eye problems that can impair vision are also common. [encyclopedia.pub]

  Abdominal pain Gastro pain, Gastrointestinal pain, Stomach pain, Abdominal discomfort [more] An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen. [rarediseases.oscar.ncsu.edu]

  pain and constipation Hand and foot deformities are very uncommon Vision impairment is generally noted Dental anomalies such as crowding of teeth (occasionally) Heart defects are not commonly seen Low muscle tone (hypotonia) affecting fine motor skills [dovemed.com]

• Constipation

  Many affected individuals have problems with feeding and digestion, including constipation, diarrhea, vomiting, and abdominal pain. Eye problems that can impair vision are also common. [encyclopedia.pub]

  Constipation Costiveness, Dyschezia Infrequent or difficult evacuation of feces. [rarediseases.oscar.ncsu.edu]

  Abnormal facial features that include: Large-sized head and forehead Almond-shaped eyes Eyebrows that meet at the center Low-set ears Upturned nose High-arched palate Small mouth Children are known to grow tall Feeding difficulties Abdominal pain and constipation [dovemed.com]

• Vomiting

  Many affected individuals have problems with feeding and digestion, including constipation, diarrhea, vomiting, and abdominal pain. Eye problems that can impair vision are also common. [encyclopedia.pub]

  Vomiting Emesis, Throwing up Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions. [rarediseases.oscar.ncsu.edu]

• Failure to Thrive

  […] to thrive Risk of falls and injuries in affected individuals with seizures Brain abnormalities, such as brain atrophy or thinned corpus callosum, may be occasionally noted Reduced quality of life Complications may occur with or without treatment, and [dovemed.com]

  Because of delayed motor and mental development (see below), progressive failure to thrive and feeding problems, intensive physiotherapy and ergotherapy was provided, additional nasogastric tube feeding with formula diet was initiated at 8 months and [jmg.bmj.com]

• Dyschezia

  Constipation Costiveness, Dyschezia Infrequent or difficult evacuation of feces. [rarediseases.oscar.ncsu.edu]

• Strabismus

  Strabismus Squint, Heterotropia, Cross-eyed, Squint eyes [more] Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other. [rarediseases.oscar.ncsu.edu]

  These include eyes that do not point in the same direction (strabismus) and underdevelopment of the optic nerves, which carry visual information from the eyes to the brain. [encyclopedia.pub]

  Patient 1 has strabismus which is typical findings in patients with Malan syndrome. Patinet 2 has congenital microphthalmia and heterochromia. The latter two symptoms are not commonly reported in Sotos syndrome. [molecularcytogenetics.biomedcentral.com]

  Additionally, patient 2 suffers from hypermetropia and divergent concomitant strabismus, largely resembling patient 1; however hearing tests were normal. [jmg.bmj.com]

• Macrocephaly

  In addition to developmental disabilities, the microdeletion manifested in overgrowth, macrocephaly, and ophthalmologic and gastrointestinal findings; in contrast, the single microduplication manifested in growth delay and microcephaly. [neuro.unboundmedicine.com]

  Introduction Features commonly associated with this chromosomal change include an unusually large head size (macrocephaly), tall stature, and intellectual disability that is usually moderate in severity. [encyclopedia.pub]

  Macrocephaly Big skull, Increased size of head, Large head, Increased size of skull, Large head circumference, Big head, Large calvaria, Increased size of cranium, Large skull, Big cranium, Large cranium, Big calvaria, Macrocrania, Megacephaly [more] [rarediseases.oscar.ncsu.edu]

  Background: Sotos syndrome patients exhibit macrocephaly, tall stature, characteristic facial features, intellectual disabilities, and deletions or other mutations involving NSD1 (Nuclear Receptor Binding SET Domain Protein 1). [n.neurology.org]

  Congenital heart defect (PDA), frontal bossing and high forehead, macrocephaly, big toe and also behavior problems (impulsiveness, frequent temper tantrums and outbursts) were observed. [molecularcytogenetics.biomedcentral.com]

• Psychomotor Retardation

  Global developmental delay Psychomotor developmental delay, Psychomotor retardation, Developmental delay, Lack of psychomotor development, Cognitive delay, Delayed intellectual development, Delayed milestones, Psychomotor development deficiency, Developmental [rarediseases.oscar.ncsu.edu]

  The clinical and anatomical features of our patients are similar to reports on partial trisomy 19p13.3 described previously, including IUGR, neurological impairment (profound psychomotor retardation, microcephalus, epilepsy, sensorineural hearing loss [jmg.bmj.com]

• Frontal Bossing

  Congenital heart defect (PDA), frontal bossing and high forehead, macrocephaly, big toe and also behavior problems (impulsiveness, frequent temper tantrums and outbursts) were observed. [molecularcytogenetics.biomedcentral.com]

• Language Delays

  Orpha Number: 254346 Definition 19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism. [rareguru.com]

  National Center for Advancing Translational Sciences Summary 19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss [rarediseases.info.nih.gov]

  Results: A 4-year-old girl presented to the neurology clinic for evaluation of developmental delay. She had expressive language delay, cognitive delay and poor interpersonal skills. She also showed abnormal behaviors with emotional dysregulation. [n.neurology.org]

  The signs and symptoms of 19p13.13 Microdeletion Syndrome may vary from one individual to another and may include: Developmental delays Speech and language delays that may be significant; learning difficulties Abnormal facial features that include: Large-sized [dovemed.com]

  Burnside RD, Pasion R, Mikhail FM, Carroll AJ, Robin NH, et al: Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay. [karger.com]

• Ataxia

  Ataxia Cerebellar ataxia Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. [rarediseases.oscar.ncsu.edu]

  Weak muscle tone (hypotonia) and problems with coordinating muscle movement (ataxia) contribute to delays in gross motor skills (such as sitting and walking) and fine motor skills (such as holding a pencil). [encyclopedia.pub]

• Global Developmental Delay

  Abstract Background: This report provides a molecular cytogenetic characterization of an Omani girl with 19p13.12 microdeletion and compares her clinical features of global developmental delay (GDD) and multiple congenital anomalies with the gene mutations [bibliomed.org]

  Global developmental delay Psychomotor developmental delay, Psychomotor retardation, Developmental delay, Lack of psychomotor development, Cognitive delay, Delayed intellectual development, Delayed milestones, Psychomotor development deficiency, Developmental [rarediseases.oscar.ncsu.edu]

  Lastly, Peddibhotla et al. have discussed a cohort of eight patients with 19p13.3 microdeletion, a high incidence of learning difficulties, hypotonia, and global developmental delay, along with the considerable presence of congenital anomalies such as [cureus.com]

• Behavior Problem

  For example, de Smith et al. have described a patient with overgrowth, macrocephaly, obesity, mental retardation, and behavioral problems (self-and hetero-aggressions and temper tantrums) [9]. [cureus.com]

  Eur J Hum Genet 17:733-740 (2009). de Smith AJ, van Haelst MM, Ellis RJ, Holder SE, Payne SJ, et al: Chromosome 19p13.3 deletion in a patient with macrocephaly, obesity, mental retardation, and behavior problems. [karger.com]

  ASD (atrial septal defect), tall stature and behavior problems (self-hugging and frequent temper outbursts). Patient 4 This patient was a five-year old boy. [molecularcytogenetics.biomedcentral.com]

• Cerebellar Ataxia

  Ataxia Cerebellar ataxia Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. [rarediseases.oscar.ncsu.edu]

Haemoglobinopathy workup revealed no clinically relevant haemoglobinopathy (normal Hb-electrophoresis, normal HbA, HbF, HbA2), but genetic data (see below) and the microcytic hypochromic anaemia were compatible with α thalassaemia trait (genotype –/αα [jmg.bmj.com]

and in some cases, due to treatment also. [dovemed.com]

Upon immunological investigations hypogammaglobulinaemia was diagnosed and immunoglobulin substitution commenced according to evidence-based guidelines for the treatment of primary antibody deficiencies.18 Intravenous immunoglobulin treatment was used [jmg.bmj.com]

Our study contributes to the diagnosis and treatment of these diseases. [molecularcytogenetics.biomedcentral.com]

What is the Prognosis of Chromosome 19p13.13 Microdeletion Syndrome? (Outcomes/Resolutions) The prognosis of Chromosome 19p13.13 Microdeletion Syndrome is dependent upon the severity of the signs and symptoms and associated complications, if any. [dovemed.com]

Given the broad clinical spectrum, the prognosis and life expectancy will depend on the manifestations in each patient. [cureus.com]

Etiology This interstitial microdeletion was identified by comparative genomic hybridization (CGH) microarray and its size is variable. Visit the Orphanet disease page for more resources. [rareguru.com]

(Etiology) Chromosome 19p13.13 Microdeletion Syndrome is caused by a deletion of genetic material in the short arm (p) of chromosome 19. [dovemed.com]

Picinelli C, Lintas C, Piras IS, Gabriele S, Sacco R, et al: Recurrent 15q11.2 BP1-BP2 microdeletions and microduplications in the etiology of neurodevelopmental disorders. Am J Med Genet B Neuropsychiatr Genet 171:1088-1098 (2016). [karger.com]

Epidemiology It has been reported in 6 patients to date. Clinical description Facial dysmorphism includes brachycephaly, anteverted nares, and ear malformations. [rareguru.com]

How can Chromosome 19p13.13 Microdeletion Syndrome be Prevented? Chromosome 19p13.13 Microdeletion Syndrome may not be preventable since many of these genetic disorders are diagnosed at or following the birth of the child. [dovemed.com]

[…] findings underline that (1) patients with multiple malformations should undergo CGH array analysis and (2) patients with recurrent infections and syndromic features or microdeletions/microduplications should be tested for associated immunodeficiency to prevent [jmg.bmj.com]