Wyniki wyszukiwania

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Recombination aneusomy of subtelomeric regions of chromosome 5, resulting from a large familial pericentric inversion invInstitute of Mother and Child, Kasprzaka 17A, 01-211 Warsaw, Poland[p15.33q35.3]

100%

Bocian E., Suchenek K., Obersztyn E., Nowakowska B., Mazurczak T.

Journal of Applied Genetics

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2005

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tom 46

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nr 1

We present a family with three cases of recombination aneusomy rec(5)dup(5q) originating from a large parental pericentric inversion of chromosome 5. The proband - a 6-year-old girl with mental retardation, speech delay, microcephaly, and slight facial dysmorphism - was referred for subtelomere testing. FISH with a Multiprobe Chromoprobe T System (CytoCell) and with several BAC clones mapping to both subtelomere regions of chromosome 5, revealed a recombinant chromosome rec(5)dup(5q) originating from a paternal pericentric inversion inv(5)(p15.33q35.3). The same inversion was present in the proband’s father’s twin-brother and rec(5)dup(5q) was also identified in his two mentally retarded daughters. The distance of breakpoints from the telomere was: 0.234-1.4 Mb for 5p and 4.1 —4.8 Mb for 5q. HR-CGH analysis confirmed the duplication of the 5q subtelomeric region but did not identify any concomitant deletion in the 5p subtelomere. Precise mapping of the aneusomic regions in the proband enabled mapping the cat cry and speech delay to 5p15.33, making the earlier localizations of these features more precise. Our family shows that the large pericentric inversion with both breakpoints at subtelomeric regions of chromosome 5 is associated with a high risk of rec(5)dup(5q) in the progeny.

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Down syndrome - genetic and nutritional aspects of accompanying disorders

84%

Mazurek D., Wyka J.

Roczniki Państwowego Zakładu Higieny

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2015

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tom 66

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nr 3

Down syndrome (DS) is one of the more commonly occurring genetic disorders, where mental retardation is combined with nutritional diseases. It is caused by having a third copy of chromosome 21, and there exist 3 forms; Simple Trisomy 21, Translocation Trisomy and Mosaic Trisomy. Symptoms include intellectual disability/mental retardation, early onset of Alzheimer’s disease and the appearance of various phenotypic features such as narrow slanted eyes, flat nose and short stature. In addition, there are other health problems throughout the body, consisting in part of cardiac defects and thyroid function abnormalities along with nutritional disorders (ie. overweight, obesity, hypercholesterolemia and deficiencies of vitamins and minerals). Those suffering DS have widespread body frame abnormalities and impaired brain development and function; the latter leading to impaired intellectual development. Many studies indicate excessive or deficient nutrient uptakes associated with making inappropriate foodstuff choices, food intolerance, (eg. celiac disease) or malabsorption. DS persons with overweight or obesity are linked with a slow metabolic rate, abnormal blood leptin concentrations and exhibit low levels of physical activity. Vitamin B group deficiencies and abnormal blood homocysteine levels decrease the rate of intellectual development in DS cases. Zinc deficiencies result in short stature, thyroid function disorders and an increased appetite caused by excessive supplementation. Scientific advances in the research and diagnosis of DS, as well as preventing any associated conditions, have significantly increased life expectancies of those with this genetic disorder. Early dietary interventions by parents or guardians of DS children afford an opportunity for decreasing the risk or delaying some of the DS associated conditions from appearing, thus beneficially impacting on their quality of life.

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Screening of white middle-class US infants with the Wolanski Gross Motor Evaluation

84%

Wurth B. H., Attermeier S.

Studies of Human Ecology

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1992

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tom 10

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Anti-inflammatory plasma cytokines in children and adolescents with Down syndrome

67%

Smigielska-Kuzia J., Bockowski L., Sobaniec W., Sendrowski K., Zelazowska-Rutkowska B., Cholewa M.

Folia Histochemica et Cytobiologica

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2010

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tom 48

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nr 4

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Relationship between molecular, cytogenetic and clinical parameters in 63 individuals with full mutation in FMR1 gene

67%

Milewski M., Bal J., Bocian E., Obersztyn E., Mazurczak T.

Journal of Applied Genetics

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1996

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tom 37

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nr 2

Relationship between selected molecular, cytogenetic and clinical parameters was analysed in a group of 63 individuals (45 males and 18 females) with full fragile X mutation. Significant correlation between the size and somatic instability of fully mutated alleles in both males and females was found. Possible explanations of this result are discussed. With respect to the mutation size, an apparent difference was observed between males with different degree of mental retardation. No such difference appeared when affected and normal females with full mutation were compared. The proportion of mutated active X chromosome was significantly higher in mentally retarded females than in those without any mental impairment.

Ograniczanie wyników

2 Journal of Applied Genetics

1 Folia Histochemica et Cytobiologica

1 Roczniki Państwowego Zakładu Higieny

1 Studies of Human Ecology

2 Bocian E.

2 Mazurczak T.

2 Obersztyn E.

1 Attermeier S.

1 Bal J.

1 Bockowski L.

1 Cholewa M.

1 Mazurek D.

1 Milewski M.

1 Nowakowska B.

1 Sendrowski K.

1 Smigielska-Kuzia J.

1 Sobaniec W.

1 Suchenek K.

1 Wurth B. H.

1 Wyka J.

1 Zelazowska-Rutkowska B.

1 2015

1 2010

1 2005

1 1996

1 1992

Recombination aneusomy of subtelomeric regions of chromosome 5, resulting from a large familial pericentric inversion invInstitute of Mother and Child, Kasprzaka 17A, 01-211 Warsaw, Poland[p15.33q35.3]

Down syndrome - genetic and nutritional aspects of accompanying disorders

Screening of white middle-class US infants with the Wolanski Gross Motor Evaluation

Anti-inflammatory plasma cytokines in children and adolescents with Down syndrome

Relationship between molecular, cytogenetic and clinical parameters in 63 individuals with full mutation in FMR1 gene