Anthony P. Amarose

Chimerism as the etiology of a 46,XX/46,XY fertile true hermaphrodite.

OBJECTIVE To determine the conceptional events resulting in a 46,XX/46,XY true hermaphrodite and to report the first pregnancy in a 46,XX/46,XY true hermaphrodite with an ovotestis. DESIGN Chromosome studies were performed on patient lymphocytes and fibroblasts. Red cell antigens, human leukocyte antigens, and presence of Y-chromosome deoxyribonucleic acid were analyzed. Findings were compared with parental and sibling blood group data. SETTING Genetics clinic and laboratories of a university hospital. RESULTS These studies demonstrated that our patient is a chimera, with dual maternal and paternal contributions. In addition, despite the presence of an ovotestis, she conceived and delivered a child. CONCLUSIONS The mechanism for chimerism in this case could be fertilization of (1) the secondary oocyte and first polar body; (2) the ovum and first polar body; (3) the ovum and second polar body; or (4) fusion of two embryos.

Clinical, pathologic, and genetic findings in a case of 46,XY pure gonadal dysgenesis (Swyer's syndrome): II. Presence of H-Y antigen

Evidence that expression of histocompatibility-Y (H-Y) antigen on human cells is determined by a Y-linked gene is provided by data demonstrating that male subjects with two Y chromosomes have higher antigen levels than male subjects with one Y chromosome. The widespread evolutionary conservation of H-Y antigen and its association with the Y chromosome suggest that the antigen has a specific, crucial function. We surmise that this function is the differentiation of the embryonic gonad into whichever mature gonad, testis or ovary, typifies the heterogametic sex of each species. Of particular interest are individuals whose gonadal sex does not correspond to their somatic genotype. In the present article, we report positive results in the first case of 46,XY pure gonadal dysgenesis (Swyers syndrome) to be typed for H-Y antigen. This case suggests that the presence of H-Y antigen may not be sufficient to complete masculinization of the embryonic mammalian gonad. Alternatively, a mutant gene may govern expression of a cell surface component which cross reacts with H-Y antigen but which lacks the ability to function in the virilization of the gonad.

Clinical, pathologic, and genetic findings in a case of 46, XY pure gonadal dysgenesis (Swyer's syndrome)

Cytogenetic, pathologic, and clinical studies were conducted on a phenotypically female patient with primary amenorrhea and infertility. Analysis of blood cultures with routine and Giemsa-banded preparations indicated that the chromosomal complement of the patient was 46,XY. Buccal and peripheral blood smears prepared for fluorescent analyses confirmed the presence of a single F-body (Y chromosome). Pathologic examination of tissues removed at total hysterectomy and bilateral salpingo-oophorectomy revealed a gonadoblastoma of the right gonad, dysgerminoma of the left gonad, and an infantile hypoplastic uterus. The data were consistent with a diagnosis of 46,XY pure gonadal dysgenesis (Swyers syndrome).

A ring 14 chromosome with deleted short arm

SummaryWe report a 46,XX,r(14) karyotype in a female infant having craniofacial dysmorphology, a seizure disorder, and developmental retardation.

A reciprocal translocation (X;11) in a female with gonadal dysgenesis.

A 24‐year‐old female patient was referred for evaluation of primary amenorrhea. Endocrine studies showed elevated gonadotropins, consistent with gonadal failure. At laparoscopy, a normal nulligravid uterus, normal fallopian tubes, and bilateral streak gonads were observed. Histologic studies showed that the left gonad consisted entirely of fibrous tissue, confirming the presence of streak gonads. Chromosome banding studies of peripheral blood and cultures of tissue from the left gonad demonstrated a 46, X, rcp(X;11)(q22;q13) karyotype. A review of reports of X‐autosome reciprocal translocations indicated that abnormal gonadal development is associated with break‐points in the mid‐region of the long arm of the X chromosome.

Cytogenetics of methadone-managed and heroin-addicted pregnant women and their newborn infants☆

Chromosomal damage was assessed prenatally and at delivery from 99 addicted pregnant women (80 from a methadone maintenance program and 19 heroin addicts) and their 101 off-spring at delivery. About 10% of the 27,907 cells scored showed chromosomal abberations. Chromosome damage was random, affected all chromosomes, and was mainly of the acentric fragment type. The per cent of hypodiploidy was significantly higher than the per cent of hyperdiploidy. In the mothers, no significant differences were found with respect to dosage and duration of methadone treatment and years of heroin abuse. No significant association was found between maternal variables and infant chromosome damage. Infants with low Apgar scores (1 to 6) had cells with significantly higher levels of chromosome damage than infants with higher scores (7 to 10).

A heritable fragile 12q24.13 segregating in a family with the fragile X chromosome.

SummaryA fragile site on chromosome 12, at 12q24.13, was found in the lymphocytes of two members of a family during the study for detection of a fragile X chromosome. The site was found to be heritable and folate-sensitive, and it fulfills all four criteria for a fragile site. It thus can now be confirmed as the heritable fragile site FRA12C.