Fifth-finger clinodactyly as well as small hands and/or feet were common features present in all of the 5 previously described cases, however, not present in our patient. [karger.com]

The patient presented spastic hypertonus and brisk tendon reflexes, being unable to walk independently or speak. [scielo.br]

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]

Microarray has also helped to characterize patients that present with a phenotypic combination that has either not been previously documented or documented as an atypical presentation of a similar syndrome that is genotypically different. [oatext.com]

• Fishing

  Interphase FISH revealed mosaicism in cultured peripheral blood lymphocytes. [molecularcytogenetics.biomedcentral.com]

  Fluorescence in situ hybridization (FISH) The FISH procedure and specific probes for the detection of IGH translocations, the 13q14 deletion and chromosome 11 polysomy have been previously described.12,23 Additional copies of chromosome 19 were investigated [haematologica.org]

  The genotype-phenotype correlations in the previous studies may not be reliable due to the standard conventional methods (GTG-banding, FISH analyses). [proquest.com]

  Análisis de las aneuploidías del cromosoma 17 y deleción del gen TP53 en tumores gastrointestinales por FISH-bicolor. Rev Col Gastroenterol. 2008;23:333-42. 12. Herrera JC, Ramírez GC, Muñetón CM. [revistabiomedica.org]

  Patients’ 2 and 7 deletions have been confirmed by BAC—FISH experiments and Figure 2 shows the images for Patient 2. [mdpi.com]

• Feeding Difficulties

  difficulties, use of feeding tubes (temporary), medications, feed thickeners, including special diets and nutritional supplements Surgical correction of physical defects, as assessed by a healthcare expert, such as surgical repair of cleft lip Use of [dovemed.com]

  Moreover, a majority of the patients present with hypotonia, feeding difficulties, and various behavioural abnormalities. [karger.com]

  Feeding difficulties required hospital admission for the first week of life. At 3 months of age developmental delay was first noticed, and at the age of 9 month hypotonia and dysmorphic features were observed. [frontiersin.org]

• Atrial Septal Defect

  Moreover, congenital atrial septal defect was present in one patient reported by Weng et al. [2018], and a dilated aortic root and a slightly thickened ventricular septum were detected in one patient at age 21 month reported by Carlsen et al. [2015]. [karger.com]

  Ogival palate, eye asymmetry. 2–3 toe syndactyly + single palmar crease - - - - - - - Cardiac anomalies - - - Ostium secundum atrial septal defect. - Small oval fossa shunt, interatrial shunt. - Ectodermal abnormalities Dry skin, sparse eyebrows. - + [mdpi.com]

• Malnutrition

  Chromosome 12q Deletion Syndrome may present complications such as malnutrition due to feeding difficulties, delayed achievement of milestones, and reduced quality of life This chromosomal anomaly may develop from sporadic mutations (vast majority of [dovemed.com]

• Weakness

  Other findings include neurologic problems such as developmental delays, dysarthria, neurogenic bladder disturbances, spastic paraperesis, ataxia, anterior tibial muscle weakness, seizures, conductive hearing loss, and cardiac defects and irregularities [oatext.com]

• Chronic Diarrhea

  Here, we report an 18-month-old girl with prenatal and postnatal growth retardation, secundum ASD and PDA, facial dysmorphic features including frontal bossing, arched eyebrows, hypertelorism, wide nasal bridge and chronic diarrhea. [proquest.com]

• Diarrhea

  Here, we report an 18-month-old girl with prenatal and postnatal growth retardation, secundum ASD and PDA, facial dysmorphic features including frontal bossing, arched eyebrows, hypertelorism, wide nasal bridge and chronic diarrhea. [proquest.com]

• Hearing Impairment

  It can result in growth and development delays, abnormal facial features, and vision/hearing impairment. [dovemed.com]

• Long Arm

  An analysis of previously published patients with deletions in this area allowed a proposition of the existence of several clusters within the long arm of chromosome 12. [chromodisorder.org]

  Synonyms Deletion 12q Monosomy 12q 12q deletion 12q monosomy Partial monosomy 12q Overview Chromosome 12q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 12 [rarediseases.org]

  Each chromosome is “X” shaped with a center, called the centromere, and two short arms (termed p arms) and two long arms (termed q arms). Humans have 46 chromosomes in the cell nucleus, in 23 pairs, of which one pair is named the sex chromosome. [dovemed.com]

  The studies about the partial deletion of the long arm of chromosome 10 indicated that the breakpoints are usually seen at the 10q23.310q26.3 chromosomal region (5). [proquest.com]

  Monsomy of the long arm of chromosome 12 is a rare laboratory finding with 11 previous reports. [oatext.com]

• Small Hand

  Small hands and feet are much more common in patients with del12q whereas down-slanting palpebral fissures were only present in 2 cases. [karger.com]

  Flat nose Abnormal and low-set ears Widely-spaced eyes Cleft lip Small hands and feet Poor muscle tone (hypotonia) causing motor delays that can be mild or severe Hearing impairment Vision defects Standing and walking difficulties Seizures Speech and [dovemed.com]

• Hip Dislocation

  Learning difficulties, a triangular face, prominent nose, developmental delay, and hip dislocation were the common characteristics of patients with the deletion covering SRO (6,12) The duplication of the 12q terminal region is a more rare condition as [proquest.com]

• Suggestibility

  The deletion detected in our patient does not involve the previously suggested candidate genes YAF2 and AMIGO2. [karger.com]

  The authors suggest that the involvement of the SMARCC2 gene explains more severe manifestations. Cluster 3 involved mainly the 12q14.3 segment. The authors’ patient 1 (as well as more than 20 previously reported patients) fits into this group. [chromodisorder.org]

  This suggests that the region deleted in this patient may only contain a small number of critical developmental genes. [jmg.bmj.com]

  This finding strongly suggests that haploinsufficiency of the proteins encoded by these genes may play a role in the genomic instability and more adverse outcomes of Δ-positivepatients. [haematologica.org]

  Studies suggest that a loss of one copy of the HNF1B gene in each cell causes the kidney and urinary tract abnormalities, as well as abnormalities of the pancreas that underlie diabetes. [medlineplus.gov]

• Hypertelorism

  Here, we report an 18-month-old girl with prenatal and postnatal growth retardation, secundum ASD and PDA, facial dysmorphic features including frontal bossing, arched eyebrows, hypertelorism, wide nasal bridge and chronic diarrhea. [proquest.com]

  She had bilateral ptosis, hypertelorism, and low set and posteriorly rotated ears (fig1). Her hair was thin, fine, and sparse. Her posterior hairline was trident and low. Her neck was short with mild webbing. [jmg.bmj.com]

  Prominent forehead - - - - + + - Hypertelorism - - + - - + - Low set ears - - - - + - Short nose - + + - - - - Other dysmorphisms Relative macrocephaly. [mdpi.com]

  The daughter presented with failure to thrive, hypertelorism, upturned nose, mild micronathia, and clinodactyly, and was suspected of Silver-Russel syndrome. [frontiersin.org]

• Broad Nasal Bridge

  Five of these share a well-defined phenotype characterised by developmental delay with cognitive impairment, growth retardation, and decreased head circumference as well as a broad forehead, large low-set ears, broad nasal bridge and/or nose, long philtrum [karger.com]

  Other findings included upslanting palpebral fissures, a broad nasal bridge, with midfacial hypoplasia, an open mouth posture, with small irregular implanted teeth, a single café-aut-lait spot on the back and a large naevus on the left upper leg which [frontiersin.org]

• Coarse Face

  Coarse face was not typical for the del12q group, whereas widely spaced nipples were not annotated for the ARID2 SNVs group. Hypotonia and feeding difficulties are features annotated for most of the patients in both groups. [karger.com]

  Table 1 Clinical summary of cytogenetic abnormalities involving 12q telomere deletions Our patient has some phenotypic findings that match from those presented in other patients with 12q deletions, as developmental delay, coarse face, growth failure, [scielo.br]

• Frontal Bossing

  Here, we report an 18-month-old girl with prenatal and postnatal growth retardation, secundum ASD and PDA, facial dysmorphic features including frontal bossing, arched eyebrows, hypertelorism, wide nasal bridge and chronic diarrhea. [proquest.com]

  In 1989 Watson et al. described an infant with an interstitial deletion from 12q15 to q21.2 with frontal bossing, small sunken eyes, a beaked nose, low-set ears, thin upper lip, high-arched palate, syndactyly of the 2nd and 3rd toes of the left foot, [oatext.com]

• Seizure

  […] prominent forehead Flat nose Abnormal and low-set ears Widely-spaced eyes Cleft lip Small hands and feet Poor muscle tone (hypotonia) causing motor delays that can be mild or severe Hearing impairment Vision defects Standing and walking difficulties Seizures [dovemed.com]

  Microdeletion of 12q24.31: report of a girl with intellectual disability, stereotypies, seizures and facial dysmorphisms. Am J Med Genet A. 2015; 167A(2):438-44. Review. [scielo.br]

  Other findings include neurologic problems such as developmental delays, dysarthria, neurogenic bladder disturbances, spastic paraperesis, ataxia, anterior tibial muscle weakness, seizures, conductive hearing loss, and cardiac defects and irregularities [oatext.com]

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

Treatment is based on the signs and symptoms present in each person.[9765] For more information, visit GARD. [rarediseases.org]

National Center for Advancing Translational Sciences Home Browse by Disease Chromosome 12q Deletion Chromosome 12q Deletion About the Disease Diagnosis & Treatment Living with the Disease Research Disease at a Glance Symptoms Causes Summary This section [rarediseases.info.nih.gov]

Banding pattern analysis of human chromosomes by use of a urea treatment technique. [link.springer.com]

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]

A MicroRNA signature associated with prognosis and progression in chronic lymphocytic leukemia. N Engl J Med. 2005; 353:1793-801. Google Scholar [haematologica.org]

Association of poor prognosis with loss of 12q, 17p, and 18q, and concordant loss of 6q/17p and 12q/18q in human pancreatic ductal adenocarcinoma. Am J Gastroenterol. 2000; 95: 2080-2085 Vogelstein B. Gillespie D. [cancergeneticsjournal.org]

TP53 mutations in human cancers: functional selection and impact on cancer prognosis and outcomes. Oncogene. 2007;26:2157-65. 11. Ramírez GC, Herrera JC, Muñetón CM, Márquez JR, Isaza LF. [revistabiomedica.org]

These detailed analyses contribute to the development of genotype/phenotype correlations for 12q deletions that will aid in better diagnosis and prognosis of this deletion. [scielo.br]

(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]

These observations suggest that chromosome mosaicism is not uncommon in pregnancies; although the etiology is unknown it might be a "rescue mechanism" for a trisomic cell line. [molecularcytogenetics.biomedcentral.com]

Further single gene deletions and functional studies could help to assess the sensitivity of different tissues to the loss of either gene, and to further investigate their role in clinical signs etiology. [mdpi.com]

DISCUSSION Technological advances in epidemiological and molecular genetics have led recently to new findings in the field of the genetics of neuropsychiatric disorders. [scielo.br]

Nada AbuDheim, Tarfa A Alshidi, Ali Al-Odaib, Brian Meyer, Pinar T Ozand & Namik Kaya Department of Zoology, School of Basic Sciences, King Saud University, Riyadh, 11211, Saudi Arabia Jawaher Al-Zahrani & Ola Al-Habit Department of Biostatistics, Epidemiology [molecularcytogenetics.biomedcentral.com]

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]