Presentation
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]
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]
Eyes
- 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]
Face, Head & Neck
- Broad Nasal Bridge
Dysmorphic features included microcephaly, broad nasal bridge, micrognathia, large and poorly folded auricular lobes and long digits. He also present rectus abdominis diastasis and umbilical hernia. [content.sciendo.com]
nasal bridge; and/or an unusually small, triangular mouth. [rarediseases.org]
Urogenital
- Cryptorchidism
In males, such abnormalities may include failure of the testes to descend into the scrotum (cryptorchidism) and/or low levels of testicular function (hypogonadism), resulting in delayed development of secondary sexual characteristics (i.e., deepening [rarediseases.org]
Treatment
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]
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]
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]
Prognosis
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]
Etiology
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]
Epidemiology
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]
Prevention
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]