Chromosomal analysis is an important etiological investigation in couples with repeated spontaneous abortions as it helps in genetic counseling and deciding about further reproductive options. Abortions ,specially first trimester abortions is a very common complication and a matter of concern for couples planning pregnancy. Balanced chromosomal rearrangements in either parent is an important ca...

Non-isolated congenital diaphragmatic hernia (CDH+) is a severe birth defect that is often caused by de novo chromosomal anomalies. In this report, we use genome-wide oligonucleotide-based array comparative genome hybridization (aCGH) followed by rapid real-time quantitative PCR analysis to identify, confirm and map chromosomal anomalies in a cohort of 26 CDH+ patients. One hundred and five put...

Holoprosencephaly (HPE) and polycystic kidney disease (PKD) are genetically heterogeneous anomalies which can make up part of various syndromes or chromosomal anomalies. Due to the rapid lethality prognosis, early and precise prenatal diagnosis would be of great value. This case report describes extensive PKD involvement, already present in utero, in a patient with HPE and subdural effusion vis...

Pericentric inversion of chromosome 6 (6p+q-) was found in a girl with Rieger's syndrome and in her father. The only ocular signs in the father were prominent iris mounds and Schwalbe's line. The association of chromosomal anomalies with Rieger's syndrome indicates the need for a chromosome banding test in familial or sporadic patients with the syndrome and in patients with mild anomalies of th...

BACKGROUND & OBJECTIVE Chromosomal anomalies have been postulated to be as one of the principal genetic factors in male infertility. Cytogenetic evaluation of men with severely compromised semen parameters reveals an increased incidence of chromosomal aberrations when compared with the normal population. The objective of this study was to determine the chromosomal constitution and sperm charact...

The determination of a baby’s sex begins at the chromosomal level with the insemination of the ovum. Further sexual differentiation follows during the subsequent embryogenesis. However, chromosomal anomalies, gene mutations, and other exogenous or endogenous factors can cause disorders of sexual differentiation. These disorders manifest during childhood or at the latest in puberty, making patie...

The advantage of microarray (array) over conventional karyotype for the diagnosis of fetal pathogenic chromosomal anomalies has prompted the use of microarrays in prenatal diagnostics. In this review we compare the performance of different array platforms (BAC, oligonucleotide CGH, SNP) and designs (targeted, whole genome, whole genome, and targeted, custom) and discuss their advantages and dis...

The determination of a baby’s sex begins at the chromosomal level with the insemination of the ovum. Further sexual differentiation follows during the subsequent embryogenesis. However, chromosomal anomalies, gene mutations, and other exogenous or endogenous factors can cause disorders of sexual differentiation. These disorders manifest during childhood or at the latest in puberty, making patie...

The determination of a baby’s sex begins at the chromosomal level with the insemination of the ovum. Further sexual differentiation follows during the subsequent embryogenesis. However, chromosomal anomalies, gene mutations, and other exogenous or endogenous factors can cause disorders of sexual differentiation. These disorders manifest during childhood or at the latest in puberty, making patie...

The determination of a baby’s sex begins at the chromosomal level with the insemination of the ovum. Further sexual differentiation follows during the subsequent embryogenesis. However, chromosomal anomalies, gene mutations, and other exogenous or endogenous factors can cause disorders of sexual differentiation. These disorders manifest during childhood or at the latest in puberty, making patie...