[…] 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]

Case Presentation The 14-year-old female proband (II-4 in Figure 1A) presented with acute left arm weakness and was referred to the Department of Pediatric Neurology, Daejeon St. Mary’s Hospital (Daejeon, Korea). [proquest.com]

• Long Arm

  Homepage Rare diseases Search Search for a rare disease Disease definition 14q32 duplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 14 that results in a predisposition to a [orpha.net]

  Each of family members with the myeloid neoplasm also had inherited 14q32 duplication – or a duplication of a region within the long arm of chromosome 14. This duplication region included five genes: TCL1A, GSKIP, ATG2B, BDKRB1, and BDKRB2. [chromodisorder.org]

  Whenever a larger or more distal segment of the long arm was involved, clinical features tended to be more severe. [proquest.com]

  Karyotyping revealed additional material on the distal portion of the long arm of chromosome 14 or 46, XX, add(14)(q31) (Figure 2). Parental cytogenetic studies were normal. [medcraveonline.com]

  14q32 duplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 14 that results in a predisposition to a number of adult-onset myeloproliferative neoplasms, including acute myeloid [ncbi.nlm.nih.gov]

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]