Presentation
The present study suggests that genotoxic damage results from exposure to chronic low doses of ionizing radiation in nuclear medicine departments. [ncbi.nlm.nih.gov]
not present in the STC, was detected (case 19). [karger.com]
Parental consent for photography and diagnostics was obtained for all the children presented in this series upon approval by the study institute ethics committee. 3. Case Presentation 3.1. [hindawi.com]
Entire Body System
- Trisomy 21
Abnormalyties - Nondisjunction and aneuploidy - Trisomy 21 - Trisomy 18 - Trisomy 13 ► THE PROF: Peter J. [youtube.com]
Besides trisomy 21, the major chromosomal aneuploidies seen in live-born babies are: trisomy 18; trisomy 13; 45, X (Turner syndrome); 47, XXY (Klinefelter syndrome); 47, XYY; and 47, XXX. [ncbi.nlm.nih.gov]
Data from New South Wales in 2010 gives rates per 1,000 births (ie without terminations included) of 0.5 for trisomy 21 and 0.1 for trisomies 18 and 13 (CEE 2012). [health.gov.au]
Overview of Chromosome Abnormalities Numerical Abnormalities: Overview of Trisomies and Monosomies Down Syndrome (Trisomy 21) Trisomy 18 & 13 Turner Syndrome Structural Abnormalities: Deletions (Cri du Chat) and Duplications (Pallister Killian) Translocations [stanfordchildrens.org]
- Crying
Again, another deficiency in chromosome no. 5 creates ‘Cri-du-chat’ (cry-of-cat) syndrome where the individuals produce a characteristic mewing cry like cat during childhood. [yourarticlelibrary.com]
[…] spermatogenesis Low serum testosterone, high FSH & LH 34. deletion (the length of which may vary) on the short arm of chromosome 5 small at birth, may have respiratory problems, the larynx doesn't develop correctly, which causes the signature cat-like cry [slideshare.net]
</p><p>Babies with trisomy 18 have low birth weight, have a weak cry, and startle to sound. They have problems feeding and fail to thrive. They have a small head size, with a prominent back of the head (occiput). [aboutkidshealth.ca]
- Multiple Congenital Anomalies
Mokhtar ABSTRACT: Karyotyping was done in 137 children suspected of having chromosomal abnormalities such as genetically uncertain syndromes, multiple congenital anomalies, short stature, dysmorphic features, unclassified mental retardation and Down syndrome [emro.who.int]
Derangement of neuronal migration in a child with multiple congenital anomalies, two congenital neoplasms, without apparent chromosomal abnormalities. J Neuropathol Exp Neurol1979;38:259–85. Perry TL, Hardwick DF, Lowry RB, Hansen S. [jmg.bmj.com]
- Hunting
In fact, trisomies represent about 35% of spontaneous abortions (Figure 1; Hassold & Hunt, 2001). [nature.com]
Hunt, D. Grant, R.P. Martin, et al. Short-term outcome of infants presenting to pediatric intensive care unit with new cardiac diagnoses. Congenit Heart Dis, 5 (2010), pp. 444-449 [6] J. Salvador Peral, S. García-Miñaur Rica, M.R. [analesdepediatria.org]
Psychiatrical
- Fear
Fear C, et al. Familial partial trisomy of the long arm of chromosome 3 (3q). Arch Dis Child. 1979;54:135-138. Yunis E, et al. Partial trisomy 3q. Hum Genet. 1979;48:315-320. Kondo I, et al. A case of trisomy 3q21 leads to qter syndrome. [rarediseases.org]
Neurologic
- Average Intelligence
Early studies of XYY syndrome done in European prisons initially led to the erroneous conclusion that these men were genetically predisposed to antisocial, aggressive behavior, below average intelligence, and homosexuality. [www2.palomar.edu]
Treatment
Significant decreases in MI and PI were concentration dependent at both treatment times. The decrease in NDI was also concentration-dependent at 48-h treatment period. [ncbi.nlm.nih.gov]
Prognosis
The authors point out that some of the chromosomal abnormalities have revealed targets for cancer treatment, and others have clinical application in the diagnosis of certain types of neoplasms and in the formulation of a prognosis. [nejm.org]
Prognosis : Only 5–10% of patients survive past 12 months of age. References: [3] [6] [8] Down syndrome (trisomy 21) [amboss.com]
Prognosis The prognosis is variable and depends on the severity of the disease. The infant mortality rate is relatively low (~4%); in adults mortality is higher than that of the rest of the adult population. [orpha.net]
The assay may be used to dichotomize CLL (the 13q-, +12, or normal genotype group versus the 11q- or 17p- group) and may be used as an aid in determining disease prognosis in combination with additional biomarkers, morphology, and other clinical information [molecular.abbott]
- http://www.archive.org/details/radiologicaldefe02arme Bertell, Rosalie: No immediate danger : Prognosis for a radioactive earth. 1985. - 435 s. - ISBN 0-7043-3934-X Chadwick, James: Radioactivity and radioactive substances; an introduction to the [fredsakademiet.dk]
Etiology
Currently, no teratogenic agent, environmental factor, or defective genes have been recognized as etiologic factors for this type of urogenital malformation. [ncbi.nlm.nih.gov]
In a craniofacial clinic it may be important to identify subtle dysmorphism and DD to establish a chromosomal etiology. Conflicts of Interest The authors declare that they have no conflicts of interest. [hindawi.com]
DiGeorge syndrome, velocardiofacial syndrome, cardiofacial syndrome) but are now known to be etiologically identical and are referred to as 22q11.2 DS. [orpha.net]
Thus, cytogenetic analysis of spontaneous miscarriages is essential to establish the etiology of fetal losses and to assess patients with risks of recurrence in future pregnancies. [karger.com]
Karyotype assessment is important to consider in all epilepsies where the etiology is uncertain as dysmorphic features may be subtle or not apparent. Karyotype examination should be extended to 50-100 mitoses to exclude mosaicism. [epilepsydiagnosis.org]
Epidemiology
In the past, epidemiological studies indicated a possible correlation between the exposure to ELF fields and cancer. [ncbi.nlm.nih.gov]
The use of biological markers as predictive early-outcome measures in epidemiological research. In: P. Toniolo, P. Boffetta, D. E. G. Shuker, N. Rothman, B. Hulka, and N. Pearce (eds.), Application of Biomarkers in Cancer Epidemiology, pp. 281–289. [cancerres.aacrjournals.org]
Descriptive epidemiology of congenital heart disease in Northern England. Paediatr Perinat Epidemiol, 23 (2009), pp. 58-65 [25] O. Baspinar, S. Karaaslan, B. Oran, T. Baysal, A.M. Elmaci, A. Yorulmaz. [analesdepediatria.org]
Sydney: NSW Ministry of Health (Centre for Epidemiology and Evidence). Howell S, Endo T, McLeod S-L et al (2011) Congenital Anomalies in Queensland: 1 July 2007 to 30 June 2010. [health.gov.au]
Pathophysiology
Chromosome 21 and Down syndrome: From genomics to pathophysiology. Nature Reviews Genetics 5, 725–738 (2004) doi:10.1038/nrg1448 (link to article) FitzPatrick, D. R. [nature.com]
Prevention
For the purpose of biological dosimetry after partial body exposure, an extension of the lymphocyte culture time is suggested at least for doses > or =3.0 Gy of 200 kV X-rays and > or =0.5 Gy of or =2.1 MeV neutrons in order to prevent a systematic underestimation [ncbi.nlm.nih.gov]
The study highlights the important role of antioxidants as a preventive tool decreasing the level of DNA oxidation, which is a potential cause of human cancer. Received: 24 August 2006 Accepted: 14 December 2006 | Back | [omfi.hu]
For some chromosomal conditions, a cardiologist will prescribe medicines to prevent dilation (enlargement) of your child’s aorta and other blood vessels. [rileychildrens.org]
Now 5, he was born with a genetic chromosomal abnormality that prevents his standing. Its high definition imaging may also detect other less common chromosomal abnormalities. [diki.pl]
In early miscarriage, chromosomal errors can prevent a fetus or embryo from developing normally. [verywellfamily.com]