ABSTRACT: Reproductive effi ciency is of economic importance in commercial beef cattle production, since failure to achieve pregnancy reduces the number of calves marketed. Identifi cation of genetic markers with predictive merit for reproductive success would facilitate early selection of females and avoid ineffi ciencies associated with sub-fertile cows. To identify regions of the genome harb...

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...

STUDY QUESTION Is there any effect of maternal age on chromosomal anomaly rate and spectrum in recurrent miscarriage? SUMMARY ANSWER There was no significant difference in the chromosome abnormality rate between sporadic and recurrent miscarriage but the chromosome abnormality rate increased significantly with maternal age. WHAT IS KNOWN ALREADY About 50-70% of non-recurrent miscarriages oc...

A woman in a family in which a G group chromosome (No. 21) with deleted short arms (21p-) is present has passed this chromosome to an intellectually deficient son, a normal son, and a daughter with Down's syndrome. Another daughter is chromosomally and phenotypically normal. As in other reports that focus on a concurrence of Gp- chromosomes and Down's anomaly, the possibility is considered that...

A patient with a partial deletion (q23 leads to qter) of the long arm of chromosome 11 presented with craniosynostosis and syndactyly. These characteristics, which have not been previously reported with 11q--, expand the phenotype of this syndrome and emphasise the need for chromosome analysis with banding techniques in multiple congenital anomaly syndromes, even if the patient could be classif...

This report is of a patient with pure trisomy of 15q24-qter who presents with the rare Ebstein anomaly and a previously unreported skeletal anomaly. Chromosome microarray analysis allowed high-resolution identification of the extent of the trisomy and provided a means of achieving higher-resolution breakpoint data. The phenotypic expression of unbalanced chromosomal regions is a complex phenome...

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...

Ebstein anomaly is a rare heterogeneous congenital heart defect (CHD) with largely unknown etiology. We present 6-year-old girl anomaly, atrial septum defect, hypoplastic right ventricle, and persistent left superior vena cava who has de novo intragenic ~403 kb deletion of the GDP-mannose 4,6-dehydratase (GMDS) gene. GMDS located on chromosome 6p25.3 encodes rate limiting enzyme in GDP-fucose s...

We report on a mother and son affected with an unusual skeletal dysplasia and anterior segment eye abnormalities. Their skeletal phenotype overlaps with the SHOX-related skeletal dysplasias and is intermediate between Leri-Weill dyschondrosteosis (LWD) and Langer Mesomelic dysplasia (LMD). The mother has bilateral Peters anomaly of the eye and was reported as having a new syndrome; the son had ...