Molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 8 or r(8)(::p12→q13.1::) associated with phenotypic abnormalities
نویسندگان
چکیده
منابع مشابه
A 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 کاملMolecular cytogenetic characterization of a prenatally detected supernumerary minute marker chromosome 8.
The characterization of a prenatally detected very small (approximately half of 18p-(karyotype: 47,XX,+mar[16]/46,XX[7]) supernumerary marker chromosome (SMC) identified by GTG-banding analysis is described. The marker has been identified as derived from chromosome 8 centromeric material using a combination of different cytogenetic (GTG-, NOR-, CBG banding), molecular cytogenetic (24 colour-flu...
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 کاملAnother 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 کاملnewborn with supernumerary marker chromosome derived from chromosomes 11 and 22- a case report
the interpretation of supernumerary chromosome is important for genetic counseling and prognosis. here, we used snp array and conventional karyotyping method to identify a denovo marker chromosome originated from chromosome 22 and 11 in a newborn transferred to the neonatal intensive care unit of shahid sadoughi hospital in 2015. clinical abnormalities identified in the newborn were dysmorphic...
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ژورنال
عنوان ژورنال: Taiwanese Journal of Obstetrics and Gynecology
سال: 2016
ISSN: 1028-4559
DOI: 10.1016/j.tjog.2016.08.002