newborn with supernumerary marker chromosome derived from chromosomes 11 and 22- a case report
نویسندگان
چکیده
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 face, intrauterine growth retardation, atrial septal defect (asd), the hypoplasia of corpus callosum and septum pellucidum. these clinical abnormalities can be related to this marker, and it may help genetic counselor for predicting abnormality risk in susceptible individuals as well as prenatal diagnosis.
منابع مشابه
Newborn 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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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; ...
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عنوان ژورنال:
iranian journal of public healthجلد ۴۵، شماره ۳، صفحات ۳۷۶-۳۸۰
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