[…] and present case Full size table Table 3 Summary of clinical features from 4 cases of distal 14q duplication from decipher database ( https://decipher.sanger.ac.uk/ ) and present case Full size table The phenotype of the present case is compared with [molecularcytogenetics.biomedcentral.com]

Here, we present the clinical and molecular cytogenetic characteristics of 2 family members with a subtelomeric rearrangement involving chromosome regions 14q32.32q32.33 and 17p13.3. [unboundmedicine.com]

[…] to adult-onset myeloproliferative neoplasm due to 14q32 duplication Trisomy 14q32 Prevalence: <1 / 1 000 000 Inheritance: - Age of onset: Adult ICD-10: D47.1 OMIM: 616604 UMLS: - MeSH: - GARD: - MedDRA: - The documents contained in this web site are presented [orpha.net]

Williams syndrome was ruled out, and presently it is not possible to ascribe this patient's severely symptomatic infantile hypercalcemia to any gene on the deleted or duplicated chromosome segments. [bionity.com]

• Splenomegaly

  This process, called extramedullary hematopoiesis, often leads to an enlarged spleen (splenomegaly) or an enlarged liver (hepatomegaly). People with splenomegaly may feel pain or fullness in the abdomen, especially below the ribs on the left side. [ncbi.nlm.nih.gov]

• Hepatomegaly

  This process, called extramedullary hematopoiesis, often leads to an enlarged spleen (splenomegaly) or an enlarged liver (hepatomegaly). People with splenomegaly may feel pain or fullness in the abdomen, especially below the ribs on the left side. [ncbi.nlm.nih.gov]

  Hepatomegaly, umbilical hernia and asymmetry of lower limbs both in volume and length were also present. Neurological examination showed marked persistent axial hypotonia. [molecularcytogenetics.biomedcentral.com]

• Bone Pain

  People with splenomegaly may feel pain or fullness in the abdomen, especially below the ribs on the left side. Other common signs and symptoms of primary myelofibrosis include fever, night sweats, and bone pain. [ncbi.nlm.nih.gov]

• Sparse Eyebrows

  She carried sparse hair, eyelashes, and eyebrows. She did not develop secondary sexual characteristics, such as breast enlargements or pubic hair, until the age of 18. [proquest.com]

• Sparse Hair

  She carried sparse hair, eyelashes, and eyebrows. She did not develop secondary sexual characteristics, such as breast enlargements or pubic hair, until the age of 18. [proquest.com]

• Sweating

  Other common signs and symptoms of primary myelofibrosis include fever, night sweats, and bone pain.\n\nPrimary myelofibrosis is most commonly diagnosed in people aged 50 to 80 but can occur at any age. [ncbi.nlm.nih.gov]

  A negative sweat test excluded cystic fibrosis. Peroxisomal defects were also excluded on fibroblast culture. He had a nasogastric feeding tube until 15 months of age. [molecularcytogenetics.biomedcentral.com]

• Night Sweats

  Other common signs and symptoms of primary myelofibrosis include fever, night sweats, and bone pain.\n\nPrimary myelofibrosis is most commonly diagnosed in people aged 50 to 80 but can occur at any age. [ncbi.nlm.nih.gov]

• Suggestibility

  Some theories suggest the condition is the result of abnormal blood flow and bleeding that occurs within the early fetus. Other theories have suggested that the cells responsible for forming the face, head, and spine fail to properly develop. [verywellhealth.com]

  Here we report a North American family with an autosomal dominant predisposition to myeloid neoplasms and a duplication of chromosome 14q32 that does not involve the GSKIP and ATG2B genes, suggesting that duplication of GSKIP and ATG2B may not be required [nature.com]

  The presented case supports the previous suggestion of a pure “distal 14q partial duplication” and underlines the clinical variability. [molecularcytogenetics.biomedcentral.com]

  Therefore, it is suggested that this recurrent 14q32.2 microdeletion is mediated by expanded TGG repeats, a novel mechanism of recurrent genomic rearrangement that is shown not to be mediated by low copy repeats. [hindawi.com]

  Indeed, microdeletion in 7q31.1 encompassing the IMMP2L gene has been suggested as a susceptibility factor for neurodevelopmental disorders, such as Tourette syndrome [21,22]. [annlabmed.org]

• Hypertelorism

  The patients had moderate intellectual disability, a high forehead, a broad nasal root, downslanting palpebral fissures, epicanthal folds, retrognathia, hypertelorism, wrinkled skin over the glabella and metopic suture, and mild finger clubbing. [unboundmedicine.com]

  Additional dysmorphic features were noted including midface retrusion, broad forehead, hypertelorism, low-set ears, low nasal bridge with hypoplastic alae nasi, single palmar creases, brachydactyly, nystagmus and hypotonia (Figure 3). [medcraveonline.com]

  Heterozygous mutations in the CCNK gene located on chr14:99,481,408-99,512,439 (OMIM #618147) can lead to DD/ID with hypertelorism and distinctive facies [61]. [proquest.com]

  Conclusions In conclusion, our observation support the existence of a “distal 14q duplication syndrome” characterized by facial dysmorphisms (high/prominent forehead, hypertelorism, downslanted palpebral fissures, wide flattened nasal bridge, broad mouth [molecularcytogenetics.biomedcentral.com]

Are there treatments available for hemifacial microsomia? There are multiple treatment options available for hemifacial microsomia. All treatments focus on surgical correction and restoring the natural appearance of the face. [verywellhealth.com]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Study design The referring physicians were asked to complete a questionnaire to determine whether the CMA results had directly influenced their treatment recommendations. [annlabmed.org]

She was administered enalapril for AR treatment. The proband’s elder brother (II-3 in Figure 1A) visited the Department of Pediatric Neurology, Daejeon St. Mary’s Hospital for genetic counseling and segregation analysis at the age of 19 years. [proquest.com]

PMID: 33313884 Prognosis Pegliasco J, Hirsch P, Marzac C, Isnard F, Meniane JC, Deswarte C, Pellet P, Lemaitre C, Leroy G, Rabadan Moraes G, Guermouche H, Schmaltz-Panneau B, Pasquier F, Colas C, Benusiglio PR, Bera O, Bourhis JH, Brissot E, Caron O, [ncbi.nlm.nih.gov]

Abnormality of blood and blood-forming tissues Myelofibrosis Neoplasm Myeloid leukemia Etiology Pegliasco J, Hirsch P, Marzac C, Isnard F, Meniane JC, Deswarte C, Pellet P, Lemaitre C, Leroy G, Rabadan Moraes G, Guermouche H, Schmaltz-Panneau B, Pasquier [ncbi.nlm.nih.gov]

COMPLEX CONGENITAL MALFORMATIONS/MENTAL RETARDATION (MRA/MR) Articolo in rivista Go to 2013 Intrauterine growth restriction and congenital malformations: a retrospective epidemiological study Articolo in rivista Go to 2013 COPY NUMBER VARIATIONS IN THE ETIOLOGY [unipa.it]

The female patient was the product of a 34 week vaginal delivery to a healthy 19 year old primagravid woman and her unrelated partner with unremarkable prenatal history, no pregnancy complications and unknown etiology for preterm labor. [medcraveonline.com]

Genome-wide oligonucleotide array comparative genomic hybridization for etiological diagnosis of mental retardation: a multicenter experience of 1499 clinical cases. J Mol Diagn 2010;12:204-212. Shin S, Yu N, Choi JR, Jeong S, Lee KA. [annlabmed.org]

[…] swell- ing of the skull Abstract in rivista Go to 2013 DIAGNOSIS AND FOLLOW-UP OF COMPLEX CONGENITAL MALFORMATIONS/MENTAL RETARDATION (MRA/MR) Articolo in rivista Go to 2013 Intrauterine growth restriction and congenital malformations: a retrospective epidemiological [unipa.it]

Human genome epidemiology: a scientific foundation for using genetic information to improve health and prevent disease. New York: Oxford University Press, 2004; 2004:217-233. [annlabmed.org]

Furthermore, thyroid involvement will deserve specific attention in patients affected by triple copy of 14q terminal region, in order to understand its real incidence and pathophysiology. [molecularcytogenetics.biomedcentral.com]

Human genome epidemiology: a scientific foundation for using genetic information to improve health and prevent disease. New York: Oxford University Press, 2004; 2004:217-233. [annlabmed.org]

The patient was managed conservatively with intravenous fluids, mannitol, and dexamethasone and started on aspirin (100 mg daily) for secondary stroke prevention. [proquest.com]