BACKGROUND The purpose of this study was to evaluate the gender ratio and incidence of chromosomal anomalies in the products of conception (POC) from recurrent miscarriages. METHODS We determined the karyotypes of POC from patients with recurrent spontaneous miscarriages between 1999 and 2009. RESULTS In total, 313 specimens were successfully karyotyped, with a median gestational age of 10 ...

Turner syndrome is a sex-chromosome disorder; occurring in 1 in 2,500 female births. There are sporadic few case reports of concomitant Turner syndrome with schizophrenia worldwide. Most Turner females had a 45,X monosomy, whereas the majority of comorbidity between Turner syndrome and schizophrenia had a mosaic karyotype (45,X/46,XX). We present a case of a 21-year-old woman with Turner syndro...

BACKGROUND Previous reports of chromosomal aberrations in different forms of congenital diaphragmatic hernia have been described as comprising aneuploidies (for example, trisomy 21), microdeletions, and duplications (for example, monosomy 15q24, 22q11.2). CASE PRESENTATION We describe the first association of a de novo partial tetrasomy 4q35.2 in a father with left-sided, isolated renal agene...

OBJECTIVE To evaluate the feasibility of genetic testing of uveal melanoma using fine-needle aspiration biopsy (FNAB). METHODS We reviewed the clinical records of all patients of the Ocular Oncology Service at Wills Eye Hospital with the diagnosis of uveal melanoma who underwent FNAB for genetic testing for chromosome 3 status between November 1, 2005, and March 1, 2006. The FNAB was performe...

To identify minimal common areas of allelic loss on chromosome 3, we have mapped both arms of the chromosome in 21 uveal melanomas that did not show monosomy 3 in our previous allelotype study. DNA was isolated from microdissected paraffin sections and amplified by PCR. In an initial screening, 14 microsatellite markers on chromosomal arm 3p and 13 on chromosomal arm 3q were used. Loss of heter...

Congenital cardiovascular malformations (CVMs) are the most common birth defect, affecting approximately 8 per 1000 live births. Roughly 25% of CVMs occur in the context of multiple congenital anomalies or as part of a genetic syndrome, while the other 75% of individuals present as an isolated, nonsyndromic CVM.1 Genomic disorders comprise the majority of syndomic CVMs, exemplified by aneuploid...

1. The chromosomal abnormality in Down's syndrome is A. Trisomy 18 B. Trisomy 21 C. 47 XXY D. Monosomy X 2. The commonest congenital cardiovascular abnormality in Down's syndrome is A. Patent ductus arteriosus B. Coarctation of aorta C. Tetralogy of Fallot D. Atrioventricular septal defect 3. A smaller tracheal tube may be required in Down's syndrome due to: A. Inadequate mouth opening B. Sub-g...

Aneuploidies cause gene-dosage imbalances that presumably result in a generalized decreased developmental homeostasis, which is expected to be detectable through an increase in fluctuating asymmetry (FA) of bilateral symmetric traits. However, support for the link between aneuploidy and FA is currently limited and no comparisons among different aneuploidies have been made. Here, we study FA in ...