Presentation
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]
Entire Body System
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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]
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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]
Eyes
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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]
Skin
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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]
Ears
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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]
Psychiatrical
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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]
Face, Head & Neck
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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]
Neurologic
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Neglect
However, the rarity of this cytogenetic entity should not allow us to neglect this potential risk. [lidsen.com]
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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]
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]
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]
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]