Vinod C. Shah

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A 5-year-old male with ambiguous external genitalia, hypospadias and microphallus without an urethral orifice was referred for cytogenetic studies. Exploratory laparotomy revealed presence of an infantile uterus and unilateral gonadal dysgenesis with both testes and fallopian tube on the right side. The metaphase cells from peripheral blood culture showed(More)
Peripheral blood lymphocytes of 9 patients under CCNU therapy were examined for frequency of sister-chromatid exchanges (SCEs) and chromosomal aberrations (CAs). 7 out of 9 patients were treated with only CCNU, whereas the remaining 2 were treated with other chemotherapeutic agents in combination with CCNU. Compared to normal individuals, a significantly(More)
The analysis of semen quality and sperm function has added a new dimension to the evaluation of male infertility. In the present investigation, some recent techniques were used to assess the nuclear, membrane, and acrosomal integrity of spermatozoa from semen of 15 subfertile males with low sperm count and motility. In the infertile semen, the live-to-dead(More)
The Harlequin fetus is a distinct genetic entity with a strikingly grotesque appearance. Three siblings (two males, one female) with Harlequin Ichthyosis, a rare form of congenital disorder, born to the same parents are presented. The genetic aspects are discussed and the relevant literature is reviewed.
Preaxial polydactyly was observed in up to five generations of an Indian family living in a village in the Rajkot district (Gujarat). Among the 71 affected members, 45 were males and 26 were females. All these affected members showed preaxial polydactyly manifesting as a well formed, articulated extra digit of the hand or foot. Twenty other cases were also(More)
The present study describes the cytogenetic findings in cases suspected with chromosomal abnormalities, in cases of mental retardation, multiple congenital malformations, clinical features of Down's syndrome, Klinefelter's syndrome, Turner's syndrome, ambiguous sex, sterility, amenorrhea and history of repeated spontaneous abortions in couples. Cytogenetic(More)