Five month extrauterine survival in a female triploid (69,XXX) child.

The case of a (69,XXX) triploid infant who survived 160 days is reported. Previously, the longest survival of a non-mosaic triploid had been 9 days. Possible reasons for this extensive survival are discussed.     

Antenatal Diagnosis of an XXX Female: A Dilemma for Genetic Counseling

This report describes the first antenatal diagnosis of an XXX female. Over 150 postnatal cases of XXX females have been described. There is no specific phenotype associated with the sex chromosome abnormality and most such persons are fertile. The frequency of XXX females in mental institutions is 3.9 per 1,000 female subjects whereas the frequency in consecutive newborn infants is 1.1 per 1,000 newborns. Chi-square analysis shows this difference cannot be due to chance. On the other hand, data from consecutive newborn studies suggest that intellectual development in XXX newborns is within normal range. Available evidence favors normal development in XXX female infants although the risk for developmental disabilities may be higher for the XXX than for the XX infant.     

Cotton-top tamarins (Saguinus (o.) oedipus) in a semi-naturalistic captive colony

To test the prediction that the breeding success of captive cotton-top tamarins (Saguinus (o.) oedipus) could be improved by maintaining them in groups whose size and age-sex composition resembled those of wild groups, data were collated from 6.5 years of records from a breeding colony that otherwise had housing and husbandry procedures similar to those of other successful colonies. Group size and composition in the colony closely resembled those of wild groups, and infant survival was the highest yet reported for the species, with 69% of the 124 infants born reared by their parents to adulthood, and a mean surviving litter size of 1.5 infants. Abortion, stillbirth, and parental neglect of infants were rare. Parity had several effects on reproduction: mean litter size decreased, but percentage infant survival increased; interbirth intervals decreased in length; and seasonality in reproduction was more pronounced for the first four litters born to breeding females than for their subsequent litters, with a birth peak in the spring. Although a spacious and complex physical environment, retention of offspring in their natal families until experience of several sets of infant siblings had been obtained, and non-invasive husbandry and research techniques may all have contributed to the colony's success, it seems possible that the improvement over other colonies is due to the resemblance of group composition to those of wild tamarins.     

Cytogenetic studies in spontaneous abortion: the Calgary experience

In a series of 493 apparently consecutive products of spontaneous abortions obtained for cytogenetic studies, tissue culture was attempted in 428 cases; chromosome analysis using the Q-banding technique was completed in 215 cases (50.2%). Abnormal karyotypes were identified in 80 cases (37.2%). Maternal tissue contamination was apparent and the actual frequency of karyotypic abnormal abortuses could be as high as 50%. Comparison of the frequency of a specific type of chromosome abnormalities with nine other series of studies showed the lowest frequency of autosomal trisomies and the highest frequency of triploidies and structural aberrations in the Calgary series. In addition, a significantly lower gestational age was observed for triploidies 69, XXX as compared to the 69, XXY.     

Duodenal atresia in an infant with triple-X syndrome: a new associated malformation in 47,XXX

BACKGROUND: An association between the triple-X syndrome (47,XXX) and gastrointestinal malformations is extremely rare. Most 47,XXX patients present with a normal phenotype, but genitourinary malformations have been described. CASE: We report a case of a child with 47,XXX and duodenal atresia. Antenatal ultrasound scan showed a dilated fetal stomach and upper part of the duodenum (double bubble phenomenon) at 31 weeks of gestation in a 31-year-old woman with polyhydramnion. The amniotic fluid karyotype showed 47,XXX. After a scheduled delivery, duodenal atresia was confirmed and treated with duodeno-duodenostomy. CONCLUSIONS: The possible association of gastrointestinal and genitourinary tract anomalies requires a detailed postnatal clinical investigation and ultrasonographic examination of the abdomen, retroperitoneum, and pelvis on all triple-X syndrome patients.     

Late replicating X chromosomes in human triploidy.

The status of X-chromosome replication was studied in twenty-seven 69,XXY and nine 69,XXX human triploids in which the parental origin of the additional haploid set was known from the study of chromosome heteromorphisms. Among the 69,XXY triploids, fourteen had no late replicating X, two had one late replicating X in all cells examined, and eleven had two populations of cells, one with late replicating X chromosome, and one without any. Among the 69,XXX triploids, four had a single late replicating X, and five had two populations of cells, one with one late replicating X, and one with two late replicating X chromosomes. There was no correlation between the parental origin of the triploidy and the type of X-chromosome inactivation. However the number of late replicating X chromosomes was significantly lower in cultures grown from fetal tissue when compared with those grown from extra-embryonic tissue. In cultures derived from extra-embryonic tissue there was a significant correlation between the gestational age of the sample and the proportion of late replicating X chromosomes. The older the specimen, the greater the number of late replicating X chromosomes.     

Acute fatty liver of pregnancy.

Acute fatty liver of pregnancy (AFLP) is rare and is peculiar to the latter half of pregnancy. Despite the high rates of death among affected mothers and their fetuses, early recognition of the disease and immediate delivery of the infant may improve the chances of survival. This paper describes a case of AFLP, characterized by a rapid decrease in the size of the liver, a greatly prolonged prothrombin time and minimal increases in the serum transaminase levels, in which an immediate cesarean section followed by vigorous supportive care led to survival of both mother and infant. It is clear that guidelines on treatment are necessary if the management of such cases is to be successful.     

An infant with Turner-Down aneuploidy and massive capillary hemangioma of the orbit: a case report with review

We report on a case of double aneuploidy involving Down and Turner cell lines in a female child with a massive capillary hemangioma of the left orbit and mild clinical features of Down syndrome. Cytogenetic findings with G-banding revealed mosaicism in her peripheral blood, i.e. mos45,X[48]/47,XX,+21[28]/46,XX[12/47,XXX[12]. Mosaicism of such nature is rare and to our knowledge the present case is the first reported of Turner-Down double aneuploidy mosaicism associated with an orbital capillary hemangioma. An annotated bibliography of earlier reported cases with documented karyotyping is also included.     

The parental origin of the extra X chromosome in 47,XXX females.

We used X-linked DNA polymorphisms to study the parental origin of X chromosome nondisjunction in 28 47,XXX live-born females. Errors in oogenesis accounted for 26 of the cases, with the majority of these being attributable to an error at meiosis I. We observed an association between advanced parental age and meiosis I nondisjunction--but not meiosis II nondisjunction--in the maternally derived cases. In studies of recombination we found little evidence for an association between pairing failure and X chromosome nondisjunction, but our results suggest that increased recombination near the centromere may play a role in the etiology of the 47,XXX condition.     

A comparative study on steroid sulfatase and arylsulfatase C in fibroblast clones from 45,X/47,XXX and 69,XXY

Summary Steroid sulfatase (STS) and arylsulfatase C (ARSC) were studied in fibroblast clones from a 45,X/47,XXX mosaic and from a 69,XXY triploidy with one or two active X chromosomes. The comparison of the 47,XXX with 45,X clones showed an incomplete gene dosage effect (1.8 for STS and 2.0 for ARSC). This was not the case for the triploid clones with different X-inactivation patterns. These results confirm previous reports on the non-inactivation of the STS gene, and establish X linkage and non-inactivation for the ARSC gene as well.     

A Nation-Wide Cancer Registry-Based Study of Adenosquamous Carcinoma in Taiwan

BackgroundAdenosqamous carcinoma (ASC) is a rare disease involving various organs, yet there are no large-scale population-based comparative studies on ASC among different organs.MethodsThe incidence and overall survival of ASC among various organs in cases diagnosed in Taiwan from January 1, 2003 to December 31, 2010 were calculated and compared using data from the Taiwan Cancer Registry (TCR). The various organs were classified and divided into three different systems: the female reproductive, respiratory, and alimentary systems. Survival analysis were also compared among 30,850 patients diagnosed as ASC, adenocarcinoma (AC) or squamous cell carcinoma (SCC) in organs with frequent ASC.ResultsDuring the study period, a total of 576 ASC cases were diagnosed in Taiwan. The most common primary system was respiratory (73.8%), followed by alimentary (16.2%) and female reproductive (10%). The overall survival were significantly higher for cases involving the female reproductive system, followed by the respiratory and alimentary systems (P = 0.016). The median overall survival were worse in males than females for cases involving the respiratory system (22.4 vs. 31.8 months, P = 0.044). Multivariate analysis showed that age≧65, more advanced T and N categories were independent unfavorable prognostic factors of overall survival in ASC. ASC histology is an independent unfavorable prognostic factor compared with AC and SCC.ConclusionsASC at an old age and more advanced T and N categories were found to be associated with a poor prognosis.     

Mosaic triple X syndrome in a female with primary amenorrhea

BACKGROUND:

Turner''s syndrome is the most common chromosomal abnormality in females, affecting 1 in 2,500 live female births. It is a result of absence of an X chromosome or the presence of a structurally abnormal X chromosome. Its most consistent clinical features are short stature and ovarian failure.

AIM:

The aim of the study was to report a rare case of mosaic triple X syndrome in a female with primary amenorrhea.

MATERIALS AND METHODS:

The chromosomal analysis using GTG banding was carried out, which revealed a mosaicism with 45,XO/47,XXX chromosomal constitution. Fluorescent in situ hybridization was also carried out to further confirm the observation made in the study.

CONCLUSION:

The physical features presented by the female could be due to the 45,XO/47,XXX mosaicism and the karyotype analysis was consistent with the diagnosis and clinical symptoms. Triple X mosaicism was confirmed with conventional and molecular cytogenetic analysis.     

A Turner patient with a 45,X,t(1;2) (q41;p11.2) karyotype

The most common chromosomal anomaly is 45,X in the Turner syndrome. In addition to this, anomaly, mosaicism such as structural 46,X,i(Xq), 46,X,del(Xp), 46,X,r(X), 46,X,t(X;Y) and numerical 46XO/46,XX/47XXX are seen rather frequently. An infant with the Turner syndrome was found to have a karyotype 45X,t(1;2) (q41;p16) using high resolution banding. Based on our knowledge, we present the first case of 45X,t(1;2) (q41;p11.2), a karyotype in Turner's syndrome in the literature.     

Unusually long survival in a case of full triploidy of maternal origin

Summary A female newborn with full triploidy and multiple malformations, who survived for 2 months, is presented. In all examined lymphocytes and fibroblasts a 69,XXX karyotype was found. Banding studies showed the presence of one 9qh in the mother and two 9qh chromosomes in the child, indicating that the triploidy arose from the failure to expel the second polar body.     

69,XXX karyotype in a malformed liveborn female. Maternal origin of triploidy

A liveborn female with a 69,XXX karyotype and clinical features of triploidy syndrome is reported. Main phenotypical features are: intrauterine growth retardation, hypotonicity, micrognathism, low-set ears, ocular anomalies, syndactyly and atrophy of the cerebral cortex and corpus callosum. Study of chromosomal heteromorphisms revealed that triploidy might have arisen through fertilization of a diploid ovum by a haploid sperm (diginy).     

Holoprosencephaly by triploidy 69 XXX in a 5 month old fetus]

Microcephaly, occipital meningocele, and uveal coloboma were observed in a 5-month-old fetus with a 69, XXX karyotype. Autopsy showed an holoprosencephaly, which has never before been reported in triploidy.     

Complexities of limb anomalies: the lower extremity in the "prune belly" phenotype

The so-called "prune belly" syndrome (PBS) consists of megalocystis, cryptorchidism, and marked abdominal distension; in addition to these findings, many other abnormalities are commonly present, rarely including severe anomalies of the leg. We report two such individuals, in whom PBS coexisted with abnormal development of the lower extremity. The first, a still-born male fetus, was delivered at 21 weeks gestation; generalized hypoplasia of both legs was present, more marked distally than proximally, and more severe on the left. The second case, a liveborn male infant, was the second of dichorionic twins, delivered at 33 weeks gestation; this infant died at two hours from respiratory insufficiency due to pulmonary hypoplasia. There was severe hypoplasia of the right leg, with gangrenous necrosis of all tissues distal to the knee. Additional findings included a single right umbilical artery, and a small congenital cystic adenomatoid malformation of the right lung. The findings in these cases are compared to other similar cases in the literature, and possible mechanisms for the etiology and pathogenesis of maldevelopment of the leg in PBS are discussed.     

An infant with diaphragmatic hernia, anophthalmia and cardiac defect: evaluation by magnetic resonance imaging autopsy

We present an infant with diaphragmatic hernia, anophthalmia and cardiac defect evaluated by magnetic resonance imaging (MRI) autopsy. This female infant was born at 39th weeks by vaginal delivery and presented with diaphragmatic hernia, anophthalmia, cardiac defect and died due to respiratory problems at 28th hours of life. MRI autopsy showed internal organ abnormalities including congenital hernia of the left diaphragm, secondary hypoplasia of the left lung, atrial and ventricular septal defect, dilatation of calices of the kidneys, bilateral anophthalmia, hypoplasia of the optic nerves, hyperintensity of pituitary gland possibly due to bleeding and a cyst of the septum pellucidum. This article shows that MRI autopsy is a valuable method for the evaluation of cases with congenital anomalies if autopsy is not possible.     

An infant with diaphragmatic eventration and respiratory distress

The authors report a rare case of partial diaphragmatic eventration in a 4-month-old infant with recurrent wheezing and low serum IgA values. Because of persistent respiratory symptoms after therapy with inhaled short-acting beta2 agonists and inhaled nebulized corticosteroids, surgery was undertaken to correct the defect. Despite surgery, the clinical symptoms did not improve. Consequently, gatroesophagel reflux was considered and the diagnosis was confirmed with pH-metry, after which the infant was started on a protonic pump inhibitor therapy (PPI), achieving clinical improvement. Our experience suggests that in infants with congenital diaphragmatic eventration who present with respiratory distress gastro-oesophageal reflux should be suspected, and PPI therapy should be started before planning surgery.     

Respiratory viruses and sudden infant death.

Viruses were shown to be present in the respiratory tract in 200 of 763 cases of the sudden infant death syndrome studied in the nine years 1974-82. Epidemiological and pathological evidence suggested that the distribution of viruses in the sudden infant death syndrome differs between infants aged 3 months or less and those aged over 3 months: the incidence of detection of virus was 14% in the younger group compared with 39% in the older group. The distribution of the viruses in these two groups was compared with that in 1341 live infants with respiratory virus infections. Adenovirus, influenza virus, parainfluenza virus, and rhinovirus had similar distribution among the victims of the sudden infant death syndrome and live controls. The incidence of detection of respiratory syncytial virus was increased in the older infants dying of the sudden infant death syndrome (90% of the cases detected) compared with the older group of live infants (53%). Antibody studies, detection of virus, and epidemiological data suggest that respiratory syncytial virus may be a precipitating factor of sudden death in older infants.