A patient with constitutional ring 1 chromosome characterized by SNP array CGH
نویسندگان
چکیده
منابع مشابه
A patient with constitutional ring 1 chromosome characterized by SNP array CGH
We present a male patient with constitutional ring 1 chromosome and subsequent 6 Mb deletion at 1q43q44. The patient displays overlapping clinical features with reported patients with ring 1 chromosome and 1q43q44 microdeletion syndrome. To our knowledge, this is the first patient with ring 1 chromosome characterized by comparative genomic hybridization.
متن کاملMetachromatic leucodystrophy (MLD) in a patient with a constitutional ring chromosome 22.
Received 15 March 1995 Revised version accepted for publication 24 May 1995 Abstract Metachromatic leucodystrophy (MLD) is an autosomal recessive lysosomal storage disease resulting from a severe deficiency of arylsulphatase A. The arylsulphatase A gene is located on chromosome 22 at q13.3. An MLD patient is described who carries a common splicing mutation ("I" allele) and a de novo ring 22 del...
متن کاملSNP Microarray Characterization and Genotype-Phenotype Analysis in a Patient with a Ring Chromosome 22
Ring chromosome 22 is a rare cytogenetic anomaly. The aim of this study was to present a case carrying ring chromosome 22 in a 9-year-old Chinese girl with long face, thick eyebrows, large and low-set ears, mental retardation, severe speech delay, autistic disorders and talipes equinovarus (TEV). A chromosome analysis of the proband revealed a de novo 46,XX,r(22)(p13;q13) karyotype and the dele...
متن کاملPrenatal Diagnosis of a Fetus with de novo Supernumerary Ring Chromosome 16 Characterized by Array Comparative Genomic Hybridization
A fetus with de novo ring chromosome 16 is presented. At 20 weeks' gestation, ultrasound examination demonstrated bilateral clubfoot, bilateral renal pyelectasis, hypoplasia of the corpus callosum, and transposition of the great vessel. Amniocentesis was performed. Chromosome analysis identified a ring chromosome 16 [47,XY,r(16)] and array comparative genomic hybridization (a-CGH) demonstrated ...
متن کاملRing chromosome 13 syndrome characterized by high resolution array based comparative genomic hybridization in patient with 47, XYY syndrome: a case report
INTRODUCTION The co-occurrence of ring chromosome 13 syndrome and 47, XYY syndrome in the same individual is rare. To the best of our knowledge, this is the first report of the co-existence of this kind of chromosome aberrations. At present, the deletion 13q syndrome is divided into three groups based on the deletion's location relative to chromosomal band 13q32. Group 1 (proximal to q32) and g...
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ژورنال
عنوان ژورنال: Clinical Case Reports
سال: 2016
ISSN: 2050-0904,2050-0904
DOI: 10.1002/ccr3.522