Recurrent 16p11.2 microdeletions in autism
نویسندگان
چکیده
منابع مشابه
Recurrent 16p11.2 microdeletions in autism.
Autism is a childhood neurodevelopmental disorder with a strong genetic component, yet the identification of autism susceptibility loci remains elusive. We investigated 180 autism probands and 372 control subjects by array comparative genomic hybridization (aCGH) using a 19K whole-genome tiling path bacterial artificial chromosome microarray to identify submicroscopic chromosomal rearrangements...
متن کامل11p14.1 microdeletions associated with ADHD, autism, developmental delay, and obesity.
Genomic copy number imbalances are being increasingly identified as an important cause of intellectual disability and behavioral abnormalities. The typical deletion in WAGR syndrome encompasses the PAX6 and WT1 genes, but larger deletions have been associated with neurobehavioral abnormalities and obesity. We identified four patients with overlapping interstitial deletions on 11p14.1 and extend...
متن کاملO-7: Y Chromosome Microdeletions Are Not Associated with Spontaneous Recurrent Pregnancy Loss in A Sinhalese Population in Sri Lanka
Background: Many advances have been made in reproductive medicine yet the spontaneous loss of a pregnancy remains the most common complication of pregnancy. The aetiology of spontaneous recurrent pregnancy loss (RPL) is multifactorial. Y chromosome microdeletions are found in approximately 7% of men with low sperm counts and, compared to the general population, a higher frequency of spontaneous...
متن کاملPrevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies.
OBJECTIVES The implementation of chromosomal microarray analysis (CMA) in prenatal testing for all patients has not achieved a consensus. Technical alternatives such as Prenatal BACs-on-Beads(TM) (PNBoBs(TM) ) have thus been applied. The aim of this study was to provide the frequencies of the submicroscopic defects detectable by PNBoBs(TM) under different prenatal indications. METHODS A total...
متن کاملRecurrent Microdeletions at Xq27.3-Xq28 and Male Infertility: A Study in the Czech Population
BACKGROUND Genetic causes of male infertility are hypothesized to involve multiple types of mutations, from single gene defects to complex chromosome rearrangements. Recently, several recurrent X-chromosome microdeletions (located in subtelomeric region of the long arm) were reported to be associated with male infertility in Spanish and Italian males. The aim of our study was to test their prev...
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ژورنال
عنوان ژورنال: Human Molecular Genetics
سال: 2007
ISSN: 0964-6906,1460-2083
DOI: 10.1093/hmg/ddm376