![]() ![]() In each case, one was paternal, indicating (since the patient also has a Y chromosome) the involvement of two sperm. For DXS3 (chromosome Xq21.3) and DXS451 (chromosome Xp22.1), the patient had three alleles ( Figure 1A and Figure 1B). We first examined X-chromosome markers, because the results were less likely to be uninformative due to allele sharing between the patient's mother and father (who was not available for testing). In Panel D, the absence of one maternal D7S460 allele (2) from the chimera DNA rules out the possibility of sample mixing. In Panel C, four D17S1178 alleles are present. The thin arrows indicate pairs of peaks with constant height ratios, implying that these alleles are in the same cell line (see the Results section). Since one of the patient's two cell lines has a paternal Y chromosome, there are four different sex chromosomes in the patient (diagnostic of chimerism). For DXS3 (Panel A) and DXS451 (Panel B), three alleles (two maternal and one paternal) are present in the patient's blood and fibroblasts. The broad solid arrows indicate paternal alleles. The number 1 indicates the largest allele, and the number 4 the smallest. For each marker, the patient's blood and skin fibroblasts (three cultures) and maternal blood were analyzed. Demonstration of Chimerism through the Use of DNA Polymorphisms.Īfter amplification by the polymerase chain reaction, the fluorescein-labeled products were separated by electrophoresis with a Pharmacia ALF sequencer. Methodsĭemonstration of Chimerism by Analysis of DNA Polymorphisms Figure 1. He has no neurodevelopmental abnormalities, and he attends a regular school. Subsequently, the child has grown and developed normally, with height at the 90th percentile and weight at the 75th percentile. ![]() At laparoscopy at four years four months, the right vas deferens and testicular vessels appeared to be normal no female genital structures were seen. Ultrasonography at three years eight months revealed an apparently normal right testis in the scrotum and normal kidneys, bladder, and pelvic structures. The basal serum testosterone concentration was normal (<20 ng per deciliter ) and rose normally to 180 ng per deciliter (6.3 nmol per liter) three days after a single intramuscular injection of 2000 IU of human chorionic gonadotropin. Karyotyping of peripheral-blood lymphocytes then revealed two cell lines, one 46,XX and the other 46,XY.Īt the age of 20 months, the infant's serum follicle-stimulating hormone and luteinizing hormone concentrations were normal for his age, both basally and in response to gonadotropin-releasing hormone. These structures were excised they proved on histologic examination to be an ovary with a fallopian tube attached to a horn of uterus. Surgical exploration at the age of 15 months revealed a hernial sac containing an abnormal gonad and vas deferens. At the age of six months, the left testis was palpable at the inguinal ring. A 3.46-kg infant was delivered vaginally at term he had a normal right testis and an undescended left testis, with otherwise normal male genitalia. Ultrasonography 36 days after transfer showed a single fetus and sac. Two days after insemination (the four-cell stage), three embryos were transferred to the woman. The woman was given buserelin and human menopausal gonadotropins, after which 18 oocytes were harvested, of which 15 were fertilized in vitro with anonymous donor sperm and maintained in separate dishes. Her partner, who was 41 years old, had had a child by another partner but was severely oligozoospermic. Hormonal and laparoscopic investigation indicated a normal pelvis and normal ovulation. The mother was a 31-year-old woman with primary infertility. The most trusted, influential source of new medical knowledge and clinical best practices in the world. Information and tools for librarians about site license offerings. Valuable tools for building a rewarding career in health care. The authorized source of trusted medical research and education for the Chinese-language medical community. The most advanced way to teach, practice, and assess clinical reasoning skills. Information, resources, and support needed to approach rotations - and life as a resident. The most effective and engaging way for clinicians to learn, improve their practice, and prepare for board exams. NEW! Peer-reviewed journal featuring in-depth articles to accelerate the transformation of health care delivery.Ĭoncise summaries and expert physician commentary that busy clinicians need to enhance patient care. NEW! A digital journal for innovative original research and fresh, bold ideas in clinical trial design and clinical decision-making. ![]()
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