BACKGROUND: It is known that 22q11.2 microdeletion is a submicroscopic chromosomal anomaly with cardiac and extra-cardiac manifestations. The prevalence and manifestations in north India have not been well characterized. OBJECTIVES: This study was designed to determine the prevalence of 22q11.2 microdeletion in congenital cardiac malformation cases referred for surgery from north India and to a...

B5 fixation achieves superior morphologic detail. However, environmental concerns have led to labor-intensive and costly requirements for disposal of mercury-containing fixatives. We performed a blinded prospective study to find a safe, mercury-free alternative to B5. Morphology was evaluated with 6 fixatives, including B5, in a blinded fashion. Acetic acid-zinc-formalin (AZF) was selected for ...

AZF deletions are genomic deletions in the euchromatic part of the long arm of the human Y chromosome (Yq11) associated with azoospermia or severe oligozoospermia. Consequently, it can be assumed that these deletions remove Y chromosomal genes required for spermatogenesis. However, these 'classical' or 'complete' AZF deletions, AZFa, AZFb and AZFc, represent only a subset of rearrangements in Y...

Y chromosome deletions in the three azoospermia factor (AZF) regions constitute the most common genetic cause of spermatogenic failure. The aim of this study was to estimate the length and boundaries of the AZF deletions and to correlate the AZF deletions with the sperm concentrations, testicular histology, Y haplogroups and the ethnic origin of the men with deletions. PCR analysis of STS loci ...

BACKGROUND In human, about 25% of implanted embryos are losing 1-2 week following attachment to the uterus. A subset of this population will have three or more consecutive miscarriages which define as repeated pregnancy loss (RPL). Introducing the assisted reproductive technologies (ARTS) made a chance for infertile couples to solve their childless problem. OBJECTIVE This study was conducted ...

BACKGROUND & OBJECTIVES Microdeletion syndromes are characterized by small (<5 Mb) chromosomal deletions in which one or more genes are involved. These are frequently associated with multiple congenital anomalies. The phenotype is the result of haploinsufficiency of genes in the critical interval. Fluorescence in situ hybridization (FISH) technique is commonly used for precise genetic diagnosis...

microdeletion syndromes are contiguous gene deletion syndromes of less than 5 megabases.  most often, many of these syndromes are not detectable by  routine chromosomal analysis and require more specific testing techniques such as fish or more accurate general coverage like array comparative genomic hybridization.  as many of these syndromes are phenotypically recognizable and allow for easy cl...

AIM To determine if Yq microdeletion frequency and loci of deletion are similar in two tissues (blood and sperm) of different embryological origin. METHODS The present study included 52 infertile oligozoospermic cases. In each case, DNA was isolated from blood and sperms and polymerase chain reaction (PCR) microdeletion analysis was done from genomic DNA isolated from both the tissues. The PC...