Presentation of case: We describe the case of a 23-year-old woman with 12p deletion syndrome who presented with clinical symptoms of occlusion to the emergency department. [repositorio.chporto.pt]

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 This is a case-report of a 4-year-old male who presented the core signs of ASD, which were thought to be related to a rare 12p13.2 deletion. [ncbi.nlm.nih.gov]

Nascimento}, journal={Molecular Cytogenetics}, year={2016}, volume={9} } BackgroundAutism Spectrum Disorders (ASD) now encompass a broad heterogeneous group of people who present in the early developmental years with a wide range of social and communication [semanticscholar.org]

This means that in many cases, chromosomal conditions will present in a family with no previous history of the condition and often be limited to a child presenting with the problem - as for example in 95% of cases of Down syndrome. [geneticalliance.org.au]

• Failure to Thrive

  Individual 2 Individual 2 is a 7-year-old male with pronounced psychomotor retardation, severe intellectual disability and failure to thrive (Figure 1). [frontiersin.org]

• Blue Sclera

  sclera * Strabismus * Optic atrophy * Prominent nasal bridge * Flat nasal bridge * Bulbous nose * Upturned nose tip * Pit at base of nasal septum * Choanal atresia * Epicanthal folds * Delayed dentition * Crowded teeth * Malocclusion * Tooth agenesis [checkorphan.org]

• Pneumoperitoneum

  Analytically, an elevation of inflammatory parameters was confirmed and imaging revealed pneumoperitoneum originated on cecum perforation. The patient was submitted to surgery with favorable evolution. [repositorio.chporto.pt]

• Hypsarrhythmia

  Infantile spasms Severe Not available Lemke et al8 c.1844A>T, p.Asn615Ile De novo Gain of function 5 F West syndrome Not available Hypsarrhythmia Infantile spasms, generalized tonic-clonic seizure Severe Normal Lemke et al8 c.1619G>A, p.Arg540HIs De [ncbi.nlm.nih.gov]

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

Surgery via Ladd's procedure commonly applies and elective treatment may prevent added morbidity. Intestinal malrotation has been associated to certain syndromes but no prior association to chromosome 12p deletion has been described. [repositorio.chporto.pt]

Other treatment is symptomatic and supportive. Investigational Therapies Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. [rarediseases.org]

After genetic counselling, you may have to make decisions about:</p> <ul> <li>whether or not to have genetic testing done</li> <li>who to tell about the results of the test</li> <li>whether you want medical treatment, if it is available</li> <li>how you [geneticalliance.org.au]

What is the Prognosis of Chromosome 12q Deletion Syndrome? (Outcomes/Resolutions) The prognosis of Chromosome 12q Deletion Syndrome is dependent upon the severity of the signs and symptoms and associated complications, if any. [dovemed.com]

[…] described in clinical cases with mild, moderate, and severe neurodevelopmental manifestations as well as impairments, the clinician may determine whether the patient will end up with a more severe or milder end-phenotype, which in turn determines disease prognosis [mdpi.com]

(Etiology) The causes of Chromosome 12q Deletion Syndrome may include the following: A de-novo deletion of genetic material in the long arm (q) of chromosome 12, which is the most common reason for the disorder Rarely, inheritance of the condition from [dovemed.com]

Then, we selected the genes that could potentially be related to one of the etiologies of ASD. [ncbi.nlm.nih.gov]

Careful laboratory and radiology etiologic investigations were performed on the proband and her mother, and all the results were within the normal range. [mdpi.com]

Screening and diagnosis for the fragile X syndrome among the mentally retarded: an epidemiological and psychological survey. Collaborative Fragile X Study Group. Am J Hum Genet1997;61:660–7. ↵ Phelan MC, Crawford EC, Bealer DM. [jmg.bmj.com]

The possibility to address it electively may prevent morbidity in patients with this syndrome. [repositorio.chporto.pt]

How can Chromosome 12q Deletion Syndrome be Prevented? Chromosome 12q Deletion Syndrome may not be preventable since many of these genetic disorders are diagnosed at or following the birth of the child. [dovemed.com]