[…] 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]

• Disability

  TY - JOUR T1 - A Familial 14q32.32q32.33 Duplication/17p13.3 Deletion Syndrome with Facial Anomalies and Moderate Intellectual Disability. [unboundmedicine.com]

  Tallantyre E, Robertson NP: Autism and intellectual disability. J Neurol 260:936-939 (2013). [karger.com]

  Contact Examen Biomnis Connect Retour à la recherche X-linked Intellectual Disability Due To Gria3 Mutations Division Internationale Lundi-Vendredi : De 8h30 à 18h30 Tél : +33 4 72 80 23 85 Contact par email Code pathologie: ORPHA:364028 Aire(s) thérapeutique [eurofins-biomnis.com]

  Abstract During infancy, this 50‐year‐old man with a previously undiagnosed multiple congenital anomalies/intellectual disability (MCA/MR) syndrome had grossly symptomatic hypercalcemia and was (briefly) thought to have Williams syndrome. [bionity.com]

  We detected a 7q31.1 deletion, including IMMP2L in three unrelated patients with DD, learning disability, ID, and speech delay. [annlabmed.org]

• Multiple Congenital Anomalies

  Abstract During infancy, this 50‐year‐old man with a previously undiagnosed multiple congenital anomalies/intellectual disability (MCA/MR) syndrome had grossly symptomatic hypercalcemia and was (briefly) thought to have Williams syndrome. [bionity.com]

  Monosomy 3pter-p25. 3 and trisomy 1q42.13-qter in a boy with profound growth and developmental restriction, multiple congenital anomalies, and early death. Pediatr Neonatol. 2013;54:202-206. Watanabe S, Shimizu K, Ohashi H, et al. [najms.com]

  In an unbalanced chromosomal aberration, the chromosomal complement carries an incorrect number of chromosomal components, leading to serious and multiple congenital anomalies [3]. [ncbi.nlm.nih.gov]

• Atrial Septal Defect

  Cardiac anomalies included a bicommisural aortic valve, a small atrial septal defect and a patent foramen ovale. Brain MRI showed delayed sulcation, prominence of the subarachnoid spaces and delayed myelination for age. [medcraveonline.com]

  A female neonate with 10q25.3 deletion in our cohort had congenital heart defects, including an atrial septal defect and ventricular septal defect. [annlabmed.org]

• Failure to Thrive

  Statistical analysis Differences in the frequency of clinical features (DD, learning disability, seizures, ID, speech delay, ASD, congenital anomalies, dysmorphic features, failure to thrive, short stature, and hypotonia) and management (pharmacological [annlabmed.org]

• 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]

• Psychomotor Retardation

  Trisomy 1q42.3‐qter and monosomy 21q22.3‐qter associated with ear anomaly, facial dysmorphology, psychomotor retardation, and epilepsy: Delineation of a new syndrome. Am J Med Genet. 2007;143A:2065-2069. Percesepe A, Lugli L, Pierluigi M, et al. [najms.com]

  Despite the rarity of distal 14q duplication, a distinctive phenotype is emerging and is characterized by low birth weight, growth retardation, psychomotor retardation, hypotonia and facial dysmorphisms. [molecularcytogenetics.biomedcentral.com]

  […] midgut malrotation, intestinal dysmotility, pyloric stenosis and laryngomalacia have been identified but there is no consistent phenotype with 14q aberrations.4,8,12-16 Terminal deletion 14q and duplication 14q in a patient with neonatal hypotonia, psychomotor [medcraveonline.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]