Additional chromosomal abnormalities in patients with a previously detected abnormal karyotype, mental retardation, and dysmorphic features

2006 ◽  
Vol 140A (20) ◽  
pp. 2180-2187 ◽  
Author(s):  
Anne-Marie Bisgaard ◽  
Maria Kirchhoff ◽  
Zeynep Tümer ◽  
Birgit Jepsen ◽  
Karen Brøndum-Nielsen ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Chromosomal Abnormalities ◽  
Abnormal Karyotype ◽  
Dysmorphic Features ◽  
Additional Chromosomal Abnormalities

The effects of educator attitudes and expectations on the educational programming for children with Down's Syndrome in the context of integration

1988 ◽  
Vol 2 ◽  
pp. 43-48
Author(s):  
Cam Wright
Keyword(s):  
Mental Retardation ◽  
Chromosomal Abnormalities ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Severe Mental Retardation ◽  
Educational Programming ◽  
Educator Attitudes

Down's Syndrome has long been associated with mental retardation. This has resulted in expectations of moderate or severe mental retardation in individuals with Down's Syndrome (Hopkins, 1983). Although there has been acceptance of the possibility of variability of attainments, a certain predictability of outcome has been assumed since Down's Syndrome is a condition resulting from known chromosomal abnormalities (Springer & Steele, 1980; Hopkins, 1983).

scholarly journals Familial partial trisomy 8p without dysmorphic features and only mild mental retardation

1995 ◽  
Vol 32 (10) ◽  
pp. 792-795 ◽  
Author(s):  
J J M Engelen ◽  
C E M d. Die-Smulders ◽  
J M J Sijstermans ◽  
L E C Meers ◽  
J C M Albrechts ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Partial Trisomy ◽  
Mild Mental Retardation ◽  
Dysmorphic Features

scholarly journals Genetic causes of reproductive problems in the Bosnian women population

2018 ◽  
Vol 9 (5) ◽  
pp. 12-16
Author(s):  
Mirela Mackic-Djurovic ◽  
Dunja Rukavina ◽  
Lejla Ahmetas
Keyword(s):  
Chromosomal Aberrations ◽  
Genetic Factors ◽  
Chromosomal Abnormalities ◽  
Population Sample ◽  
Medical Sciences ◽  
Abnormal Karyotype ◽  
Female Population ◽  
Reproductive Disorder ◽  
The Difference ◽  
Bosnian Women

Background: The causes of infertility and recurrent spontaneous abortions are diverse and numerous – including non-genetic and genetic factors – whereby the importance of genetic factors in pathogenesis of infertility is becoming more and more common. Chromosomal abnormalities and genetic defects can cause reproduction failures, and for this reason genetic analysis can play an important role in reproductive problems research.Aims and Objective: This study aims to determine the type and frequency of chromosomalaberrations in the female population sample, as well as to determine if the difference between groups with and without chromosomal aberrations was statistically significant.Materials and Methods: One hundred women aged 15-46 were included in the study, allhaving different reproductive disorder diagnoses and requiring karyotype analysis in the Sarajevo Medical Faculty Genetic Center. Cytogenetic analysis was performed on the peripheral blood, which was cultured for four days, using GTG banding forchromosomalanalysis.Results: Out of 100 women included in the study, an abnormal karyotype was found in 16 of them (16%). The difference between the frequency of normal and abnormal karyotype in women with reproductive problems identified in this study was found to be statistically significant. The pattern of chromosomal aberrations was similar to that reported in the previous cytogenetic studies with similar inclusion criteria.Conclusion: This fact should be taken in the consideration in order to estimate true etiology of reproductive problems and it is a valuable information in the process of genetic counseling and decision making in assisted reproductive technology.Asian Journal of Medical Sciences Vol.9(5) 2018 12-16

Familial 13p+ chromosome with mental retardation and dysmorphic features in two children

1976 ◽  
Vol 34 (1) ◽  
Author(s):  
C. Stoll ◽  
A. Rohmer ◽  
R. Korn ◽  
G. Heumann
Keyword(s):  
Mental Retardation ◽  
Dysmorphic Features

scholarly journals Distal Partial Trisomy 15q26 and Partial Monosomy 16p13.3 in a 36-Year-Old Male with Clinical Features of Both Chromosomal Abnormalities

2015 ◽  
Vol 145 (1) ◽  
pp. 29-34 ◽  
Author(s):  
Devin M. Cox ◽  
Merlin G. Butler
Keyword(s):  
Intellectual Disability ◽  
Chromosomal Abnormalities ◽  
Receptor Gene ◽  
Partial Trisomy ◽  
Chromosome Translocation ◽  
Fish Analysis ◽  
Partial Monosomy ◽  
Chronic Anemia ◽  
Dysmorphic Features ◽  
History Of

We report a 36-year-old Caucasian male identified with distal partial trisomy 15q and partial monosomy 16p from an unbalanced chromosome translocation detected by microarray and FISH analysis. He had a history of developmental delay and intellectual disability, chronic anemia, tall and slender stature, thoracic scoliosis and lumbar lordosis, and dysmorphic features. The distal partial trisomy 15q included the insulin-like growth factor 1 receptor gene involved with growth, while genes in the distal partial monosomy 16p region are involved with alpha hemoglobin production, intellectual disability, dysmorphic features, and acromegaly. The chromosome derivative found in our patient contains genes known to play a role in his phenotype.

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