Infertility in a man with oligoasthenozoospermia associated with mosaic chromosome 22q11 deletion
نویسندگان
چکیده
منابع مشابه
Truncus arteriosus communis associated with chromosome 22q11 deletion.
OBJECTIVES The purpose of this study was to clarify characteristics of truncus arteriosus communis associated with chromosome 22q11 deletion (del 22q11). BACKGROUND DiGeorge syndrome and conotruncal anomaly face syndrome are associated with del 22q11 (hemizygosity). In 30% of cases, truncus arteriosus communis is associated with the deletion. METHODS Fifteen consecutive patients with truncu...
متن کاملIsolation of the subclavian artery associated with chromosome 22q11 deletion.
An interesting report on isolation of the subclavian artery appeared in the recent issue of this journal. The authors reported 3 patients with interruption of the aortic arch between the carotid arteries ('type B'), isolation of the subclavian artery, and deletion of the chromosome 22ql l . Isolation of the subclavian artery is a rare anomaly. Although the authors discussed only briefly the eti...
متن کاملMonozygotic twins with chromosome 22q11 deletion and discordant phenotype.
We report monozygotic twins concordant for 22q11.2 deletion but discordant for clinical phenotype. Both boys show the typical dysmorphic features with short palpebral fissures, square nasal tip, small mouth, and both have nasal speech, but only one twin had a heart defect. They show that the phenotypic variability seen in this microdeletion syndrome cannot be explained on the basis of genotypic...
متن کاملConotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11.
The conotruncal anomaly face syndrome was described in a Japanese publication in 1976 and comprises dysmorphic facial appearance and outflow tract defects of the heart. The authors subsequently noted similarities to Shprintzen syndrome and DiGeorge syndrome. Chromosome analysis in five cases did not show a deletion at high resolution, but fluorescent in situ hybridisation using probe DO832 show...
متن کاملChromosome 22q11 deletion in patients with ventricular septal defect: frequency and associated cardiovascular anomalies.
BACKGROUND A ventricular septal defect (VSD) is the most common form of congenital heart disease and is one of the most common cardiovascular anomalies in individuals with chromosome 22q11 deletion syndrome. However, the frequency of a chromosome 22q11 deletion in patients with a VSD is not known. In addition, among patients with a VSD, it is not clear whether particular types of VSD or associa...
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ژورنال
عنوان ژورنال: Molecular Genetics & Genomic Medicine
سال: 2018
ISSN: 2324-9269
DOI: 10.1002/mgg3.487