FISH spots microdeletion in heart defects
نویسندگان
چکیده
منابع مشابه
Frequency of 22q11.2 microdeletion in children with congenital heart defects in western poland
BACKGROUND The 22q11.2 microdeletion syndrome (22q11.2 deletion syndrome -22q11.2DS) refers to congenital abnormalities, including primarily heart defects and facial dysmorphy, thymic hypoplasia, cleft palate and hypocalcaemia. Microdeletion within chromosomal region 22q11.2 constitutes the molecular basis of this syndrome. The 22q11.2 microdeletion syndrome occurs in 1/4000 births. The aim of ...
متن کاملDetection of chromosomal abnormalities and the 22q11 microdeletion in fetuses with congenital heart defects.
Chromosomal abnormalities and the 22q11 microdeletion are implicated in congenital heart defects (CHDs). This study was designed to detect these abnormalities in fetuses and determine the effect of genetic factors on CHD etiology. Between January 2010 and December 2011, 113 fetuses with CHD treated at the Beijing Obstetrics and Gynecology Hospital were investigated, using chromosome karyotyping...
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From tiger stripes to the spots on a butterfly wing, we all grow up learning about the beauty and diversity of animal pigment patterns. Such patterns are one of the most obvious traits of animals and serve a variety of functions. Some provide camouflage (zebra stripes) or warnings (the colors of poison arrow frogs). Other patterns have roles in social aggregation and mate choice (guppies), and ...
متن کاملSNP Microarray in FISH Negative Clinically Suspected 22q11.2 Microdeletion Syndrome
The present study evaluated the role of SNP microarray in 101 cases of clinically suspected FISH negative (noninformative/normal) 22q11.2 microdeletion syndrome. SNP microarray was carried out using 300 K HumanCytoSNP-12 BeadChip array or CytoScan 750 K array. SNP microarray identified 8 cases of 22q11.2 microdeletions and/or microduplications in addition to cases of chromosomal abnormalities a...
متن کاملPattern of Congenital Heart Defects in 22q11 Microdeletion Syndrome in India – A Tertiary Care Cardiac Hospital Based Study
The 22q11.2 microdeletion syndrome is one of the common microdeletion syndromes seen among children with Congenital Heart Defects. Population based studies have shown the prevalence of 22q11.2 microdeletion syndrome range from 1 in 4000 to 1 in 6000 live births.1,2 Over 80% of children with 22q11.2 microdeletion syndrome have Congenital Heart Defects.1,3,4 Diagnosis of 22q11.2 microdeletion syn...
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ژورنال
عنوان ژورنال: Microscopy and Microanalysis
سال: 2009
ISSN: 1431-9276,1435-8115
DOI: 10.1017/s1431927609990481