Another Small Supernumerary Marker Chromosome (sSMC) Derived from Chromosome 2: Towards a Genotype/Phenotype Correlation
نویسندگان
چکیده
منابع مشابه
Another small supernumerary marker chromosome derived from chromosome 9 in a Klinefelter patient.
Marker chromosomes are very rare in Klinefelter patients and phenotypic findings are related to the affected chromosomal region. The phenotypic effects of small supernumerary marker chromosomes (sSMC) range from multiple malformations/mental retardation to no effect (ie a normal phenotype). This wide spectrum of phenotypes is due to the origin, structure and gene content of the marker chromosom...
متن کاملOverrepresentation of small supernumerary marker chromosomes (sSMC) from chromosome 6 origin in cases with multiple sSMC.
Small supernumerary marker chromosomes (sSMC) in human are defined as additional centric derivatives smaller than chromosome 20. In the majority of the cases only one sSMC is present, leading to a more or less stable karyotype of 47,XX,+mar or 47,XY,+mar. In approximately 1.4% of sSMC cases two or up to seven markers of different chromosomal origin are reported. According to the literature a sS...
متن کاملPrenatal detection and characterization of a small supernumerary marker chromosome (sSMC) derived from chromosome 22 with apparently normal phenotype.
OBJECTIVE To present prenatal findings and molecular cytogenetic characterization of a small supernumerary marker chromosome (sSMC) derived from chromosome 22 with apparently normal phenotype. CASE AND METHODS An amniocentesis was performed at 15 weeks' gestation and a small marker chromosome in the female fetus of a twin pregnancy was noted. A second amniocentesis was performed at 18 weeks; ...
متن کاملA small supernumerary marker chromosome, derived from chromosome 22, possibly associated with repeated spontaneous abortions.
We report a phenotypically normal couple with repeated spontaneous abortions and without other clinical features. Clinical, hematological, biochemical, and endocrinological aspects of the couple did not reveal any abnormalities. The karyotype of the wife was normal (46,XX), while the husband was found to have an abnormal karyotype, 47,XY,+der(22)mat. The marker chromosome was familial and non-s...
متن کاملSmall supernumerary marker chromosomes (sSMC) in humans.
Small supernumerary marker chromosomes (sSMC), defined as additional centric chromosome fragments too small to be identified or characterized unambiguously by banding cytogenetics alone, are present in 0.043% of newborn children. Several attempts have been made to correlate certain sSMC with a specific clinical picture, resulting in the description of several syndromes such as the i(18p)-, der(...
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ژورنال
عنوان ژورنال: Journal of Histochemistry & Cytochemistry
سال: 2005
ISSN: 0022-1554,1551-5044
DOI: 10.1369/jhc.4b6414.2005