Symptoma

Proximal Trisomy 14q

Partial Trisomy 14q

At 18 months, he presented with global developmental delay including delayed sitting; at 2 years delay in speech was recorded. [lidsen.com]

Here, we present the cases of 2 patients with partial trisomy 4p and partial trisomy 14q resulting from a 3:1 segregation of a maternal balanced t(4;14) translocation. [ncbi.nlm.nih.gov]

Case presentation: We present a 3-month-old male patient with dysmorphic features and congenital heart defect associated with a small interstitial deletion of chromosome 14q, identified by cytogenetic analysis as 46,XY,del(14)(q11q12). [content.sciendo.com]

The patient presented with facial dysmorphism and a high‐pitched cry, exhibited severe developmental delay, and developed an aggressive ovarian immature teratoma. [onlinelibrary.wiley.com]

  • Epilepsy

    Partial monosomy Xq(Xq23 qter) and trisomy 4p(4p15.33 pter) in a woman with intractable focal epilepsy, borderline intellectual functioning, and dysmorphic features. Brain Dev. 2008;30:425–429. [PubMed] [Google Scholar] [ncbi.nlm.nih.gov]

  • Infertility

    Infertility in carriers of two bisatellited marker chromosomes. Clin Genet. 1993; 44: 71-75. [CrossRef] Armanet N, Tosca L, Brisset S, Liehr T, Tachdjian G. Small supernumerary marker chromosomes in human infertility. [lidsen.com]

  • Strabismus

    He also had the following clinical features: microcephaly, strabismus, delay in tooth eruption, mild intellectual developmental delay, slender fingers, a micropenis, and bilateral ectopic testicles (Figure 2, Table 1). [lidsen.com]

  • Eruptions

    He also had the following clinical features: microcephaly, strabismus, delay in tooth eruption, mild intellectual developmental delay, slender fingers, a micropenis, and bilateral ectopic testicles (Figure 2, Table 1). [lidsen.com]

  • Low Set Ears

    A few minor phenotypic abnormalities, including short palpebral fissure, low-set ears, a round face, asymmetric eyes, small ears, a short neck, and finger/toe abnormalities were also observed in these patients. CASE REPORT 1. [ncbi.nlm.nih.gov]

  • Behavior Disorder

    The phenotype of trisomy X first described by Jacobs was limited to reduced intelligence in 70% of cases, and sometimes to behavioral disorders. [lidsen.com]

  • Round Face

    A few minor phenotypic abnormalities, including short palpebral fissure, low-set ears, a round face, asymmetric eyes, small ears, a short neck, and finger/toe abnormalities were also observed in these patients. CASE REPORT 1. [ncbi.nlm.nih.gov]

  • Neglect

    However, the rarity of this cytogenetic entity should not allow us to neglect this potential risk. [lidsen.com]

  • Convulsions

    This infant passed away at 1 month old as a consequence of multiple cyanotic incidents due to convulsion and aspiration and no autopsy was performed to determine other eventually potential causes of death. [lidsen.com]

Standard Therapies Treatment The treatment of Chromosome 15, Distal Trisomy 15q is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. [rarediseases.org]

In particular, the strong response to growth hormone therapy, which led to 4 cm of growth after only 4 months of therapy in case 2, could be very informative for developing a treatment strategy for the patient described in case 1 as well as for patients [ncbi.nlm.nih.gov]

Statistics and Research Methods Stem Cell Transplantation Substance Use and Addiction Surgery Surgical Innovation Surgical Pearls Teachable Moment Technology and Finance The Rational Clinical Examination Tobacco and e-Cigarettes Toxicology Trauma and Injury Treatment [jamanetwork.com]

Gene mutation and linkage analysis on human chromosome 14 has demonstrated the association of these genes with various pathologies; sometimes tumoral correlated with a poor prognosis [34,35,36,37,38,39]. [lidsen.com]

An etiology of testicular cancer: Association with congenital abnormalities, age at puberty, infertility, and exercise. BMJ. 1994; 308: 1393–1399. [CrossRef] Gentile M, Susca F, Resta N, Stella A, Cascone A, Guanti G. [lidsen.com]

Ong S, Tonks A, Woodward ER, Wyldes MP, Kilby MD, et al. (2007) An epidemiological study of holoprosencephaly from a regional congenital anomaly register: 1995-2004; p. 340-347. [oatext.com]

Down's syndrome and leukemia: epidemiology, genetics, cytogenetics and mechanisms of leukemogenesis. Cancer Genet Cytogenet. 1987; 28: 55-76. [CrossRef] Secker-Walker LM, Fitchett M. Constitutional and acquired trisomy 8. [lidsen.com]

Transplantation Substance Use and Addiction Surgery Surgical Innovation Surgical Pearls Teachable Moment Technology and Finance The Rational Clinical Examination Tobacco and e-Cigarettes Toxicology Trauma and Injury Treatment Adherence United States Preventive [jamanetwork.com]

In addition, physicians may recommend preventive measures for affected infants and children who may be prone to repeated respiratory infections. [rarediseases.org]