ASYMMETRIC TESTICULAR DYSGENESIS

ABSTRACT. Rybak, M., Sokolowski, J., Szmigiel, C., Kleczkowska, A., Nowicki, J. and Pilch, J. (Paediatric Institute and Institute of Anatomy and Histology, Medical Academy, Cracow, Poland). Asymmetric testicular dysgenesis. Acta Paediatr Scand, 63: 889, 1974.—An 8-months-old child with abnormal sexual development and male karyo-type is described. On the basis of clinical, histological and cytogenetic investigations a diagnosis of asymmetric testicular dysgenesis has been established. The abnormalities in gonadal development are probably the result of inadequate and delayed action of inducing substance in early embryonic life. In accordance with the appearance of the external genitalia and the karyotype, male sex has been accepted. It seems reasonable to remove the female rudiments because of a high percentage of malignancy in these cases. Therapy with androgens will be necessary at the time of puberty.     

TRISOMY 17–18

Three cases of trisomy 17–18 associated with oesophageal atresia and tracheo-oesophageal fistula are described, and the clinical features of two other cases of trisomy 17–18 are summarised. It is concluded that the association between the two conditions is not so rare as previous reports suggest.     

TRISOMY 20 MOSAICISM

Abstract. The first known case of trisomy 20 mosaicism is described. As in other cases of (partial) trisomy 20, the patient showed scarce physical malformations. It is suggested that trisomies for chromosomes of the F group are rare not because they are lethal but as a result of the morphology of the chromosomes involved.     

Truncus arteriosus associated with trisomy 18

Summary The spectrum of cardiac anomalies in trisomy 18 typically includes septal defects and polyvalvular disease and only rarely complex malformations. We report the first case of trisomy 18 with truncus arteriosus type II.     

KLINEFELTER'S SYNDROME WITH MOSAICISM TRISOMY - 18

In recent years there have been a number of articles on sex chromosome abnormalities in association with Trisomy-18 (Uchida, 1962; Ricci, 1963; Haas, 1966; Cohen et al., 1967) but we are not aware of any such report in the Australian literature.     

Extrahepatic biliary atresia associated with trisomy 18

A case of extrahepatic biliary atresia (EBA) associated with trisomy 18 is presented. A 1-month-old boy was suspected to have Alagille syndrome with obstructive jaundice, a systolic heart murmur, growth retardation, and a small, pointed chin. However, surgery and chromosomal analysis revealed EBA associated with trisomy 18. Chromosomal examination must be performed in patients with jaundice and congenital anomalies. It is possible that EBA in trisomy 18 syndrome is due to a chromosomal disorder. Accepted: 20 April 1998     

The clinical and genetic picture of trisomy 18 (Edwards' syndrome)

Six patients with Edwards' syndrome were studied. One child (case 2) was found to have a structural anomaly of a B chromosome as well as an extra chromosome of pair No. 18: 47,XY,18+,inv.(Bp+q-). Case 3 showed additional malformations not commonly present in Edward's syndrome. Case 4 was a twin; the twin sister was clinically and chromosomally normal. In case 6, which came to our attention after the discovery of the banding technique, it was possible to diagnose as trisomy 18 unequivocally by this method. Some striking features of the dermatoglyphics and creases are discussed.

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Zusammenfassung Es wurde über 6 Patienten mit Edwards-Syndrom berichtet. Ein Kind (Fall 2) zeigte außer Extrachromosom Nr. 18 eine strukturelle Anomalie eines B-Chromosoms: 47,XY,18+,inv.(Bp+q-). Bei Fall 3 waren einige beim Edwards-Syndrom unübliche Mißbildungen vorhanden. Bei dem 4. Kind handelte es sich um eine Zwillingsgeburt, die Zwillingsschwester war klinisch und chromosomal normal. Ein Fall von Trisomie 18, der uns nach der Entdeckung der Bandentechnik bekannt wurde, konnte, mit dieser Technik einwandfrei als Trisomie 18 diagnostiziert werden. Einige Auffälligkeiten im Bereich der Dermatoglyphen wurden demonstriert.

     

HYPOTHALAMIC DIGOXIN-MEDIATED MODEL FOR TRISOMY 21

The isoprenoid pathway related cascade was assessed in trisomy 21. Membrane Na + , K + -ATPase activity, serum magnesium, and ubiquinone were decreased while hydroxy methyl glutaryl CoA (HMG) coenzyme A (CoA) reductase activity, serum digoxin, and dolichol levels were increased in trisomy 21. There were increased levels of tryptophan catabolites--nicotine, strychnine, quinolinic acid, and serotonin--and decreased levels of tyrosine catabolites--dopamine, noradrenaline, and morphine in trisomy 21. There was an increase in dolichol levels, carbohydrate residues of glycoproteins, glycolipids, total/individual glycosaminoglycan (GAG) fractions, and lysosomal enzymes in trisomy 21. Reduced levels of ubiquinone, reduced glutathione, and free radical scavenging enzymes as well as increased lipid peroxidation products and nitric oxide were noticed in trisomy 21. Hypothalamic digoxin and a disordered isoprenoid pathway are important in the pathogenesis of trisomy 21.     

RETICULAR DYSGENESIS IN A PRETERM INFANT: A Case Report

Reticular dysgenesis (RD) is a rare congenital immunodeficiency classified within the severe combined immunodeficiencies (SCIDs) and characterized by impairment of both lymphoid and myeloid cell development. Neutropenia unresponsive to recombinant human granulocyte colony-stimulating factor (rGCSF) is the hallmark of RD and the clinical course is rapidly fatal due to overwhelming infections. The authors report a female newborn at 32 weeks of gestation presenting with severe leukopenia at birth. The bone marrow showed a maturation arrest in the myeloid and lymphoid lineage. She had no response to granulocyte colony stimulating factor (rGCSF) treatment and died with sepsis at age of 2 months.     

Congenital polyvalvular disease in trisomy 18: Echocardiographic diagnosis

Summary Congenital heart disease is known to occur in greater than 90% of patients with trisomy 18, with ventricular septal defect and patent ductus arteriosus being the most frequently encountered lesions. The presence of congenital polyvalvular disease in trisomy 18 as assessed by pathological specimens has also been noted. Echocardiograms were obtained in 15 patients with trisomy 18 and in 12 infants with dysmorphic features, who did not have chromosomal abnormalities, in order to obtain an echocardiographic assessment of the frequency of polyvalvular disease in living patients with trisomy 18. In this series all patients with trisomy 18 had structural defects (seven ventricular septal defects, three patent ductus arteriosus, five both). All trisomy 18 patients also had congenital polyvalvular disease with six patients having four affected valves, five patients having three affected valves, and four patients with two affected valves. In patients with normal chromosomes two had a single abnormal valve, and structural lesions included patent ductus arteriosus (3), ventricular septal defect (2), pulmonary atresia with ventricular septal defect (1), transposition of the great arteries (1), and atrioventricular canal with patent ductus arteriosus and coarctation (1). In infants with features suggestive of trisomy 18, structural cardiac lesions are a nonspecific finding. However, the presence of polyvalvular disease may be a more specific and useful adjunct to other clinical investigations pending chromosomal analysis for definitive diagnosis.     

GONADAL DYSGENESIS WITH LYMPHOCYTIC THYROIDITIS AND DELETION OF THE LONG ARM OF THE X CHROMOSOME

A 17-year-old girl with several stigmata of gonadal dysgenesis and a 45, X/46, XXq? mosaicism is presented. She had small hypoplastic ovaries and regular menstruations, and a lymphocytic thyroiditis. The relationship between gonadal dysgenesis and lymphocytic thyroiditis is discussed.     

Cardiac Surgery in Patients with Trisomy 18

Cardiac surgery is infrequently but increasingly being used to repair congenital heart defects associated with trisomy 18. The clinical details of trisomy 18 patients undergoing cardiac surgery have rarely been reported. Seventeen patients with trisomy 18 and serious cardiac symptoms underwent cardiac surgery in our institution. Age at surgery ranged from 7 to 258 days (median, 66 days). One patient had an atrioventricular septal defect and coarctation of the aorta. The remaining patients had ventricular septal defects, including four patients with coarctation of the aorta. Fourteen patients had associated patent ductus arteriosus. Fourteen patients underwent palliative surgery without cardiopulmonary bypass, and four of these underwent a second-stage intracardiac repair. The other three patients underwent primary intracardiac repair. Postoperatively, 14 patients (82%) were discharged home with improved symptoms. Survival from birth ranged from 12 to 1384 days (median, 324 days). Eight patients survived longer than 1 year. Median postoperative survival was 179 days. Postoperative survival was significantly better after palliative surgery (0 to 1239 days; median, 257 days) than after primary intracardiac repair (1 to 179 days; median, 48 days). Only one patient died of heart failure, suggesting that cardiac surgery was effective in preventing heart failure-related death.     

Trisomy 4p and partial monosomy 18q due to paternal translocation t(4;18) (p11; q21.3)

A carrier status for balanced translocation in either of the parents increases the risk of congenital malformation in the offspring. A case, of multiple congenital anomalies in a female newborn was found to be associated with trisomy 4p and partial monosomy 18q as a result of a reciprocal translocation, t(4; 18) (p11; q21.3) in the father. The clinical and cytogenetic findings are compared with characteristic features of trisomy 4p, monosomy 18q and two similar cases reported earlier.     

ENDOCRINE ASPECTS OF TRISOMY 4p

Abstract. The main endocrinological parameters were investigated in two sisters affected with trisomy 4p. Our findings rule out any impairment of the endocrine system in this rare syndrome, even in those cases in which stunting of growth is more pronounced. The marked weight deficit in one of the two patients had no relationship to the chromosomal anomaly; it was determined by the association of a deficit of immunoglobulin with a Giardia Lamblia infestation.     

A Case of 48, XXX, +18 Double Trisomy

We report a case of double trisomy, 48, XXX, + 18 in a newborn female who had low set ears, prominent occiput, receding chin, overlapping fingers, structural heart disease and other malformations. These deformities are similar to the characteristic manifestations of trisomy 18 syndrome. She died on the 10th day. Autopsy revealed VSD, ASD, PDA, coarctation of the aorta, Meckel's diverticulum and cerebellar hypoplasia. Our case showed unilateral anomalies on the right side. These may help to suggest the diagnosis of double trisomy.     

Quality control of prenatal sonography in detecting trisomy 18. The value of perinatal autopsy

AIMS: This study was designed to compare the prenatal ultrasound findings and postmortem pathologic findings of fetuses with trisomy 18. STUDY DESIGN: Of 22,150 fetal chromosome analyses, 70 fetuses with trisomy 18 were diagnosed between 1990 and 2004. Sonographic and perinatal autopsy findings were compared by organ system and their correlation was assigned to 1 of 3 categories. RESULTS: There were 164 separate major structural abnormalities found on autopsy. Of them, sonography detected 72 (43.9%). Among major defects the agreement was more than 75% of all abnormalities of these systems: central nervous system (80%), abdominal abnormalities (87.5%) and cystic hygroma (100%). Whereas, the sensitivity of sonography was lower in these organ systems: cardiac system (66.6%), facial abnormalities (26.3%), urinary system (27.3%) and extremities (8.7%). The rate of additional findings at autopsy was 56.1% and involved mainly 2 organ systems: face (including ear) and extremities (including hands and feet). Some ultrasound findings (n=15) were not confirmed at autopsy in our series. CONCLUSIONS: This study confirms that perinatal autopsy provides additional information in many fetuses with trisomy 18. Besides obstetricians, pediatricians and geneticists, specialized perinatal pathologists have an important role in the multidisciplinary management of prenatally diagnosed fetal malformations. In addition, examining the correlation between sonography and pathologic findings may indicate potential markers for sonographic screening of trisomy 18.     

An unexpected finding in a child with neurological problems: mosaic ring chromosome 18

Major neurological disorders may accompany rare chromosomal abnormalities. As an example of this rare condition, we present a case with microcephaly, mental retardation, developmental delay, hyperactivity, stereotypic movements, seizures and dysmorphic facial appearance in whom a mosaic ring chromosome 18 was found [45,XX,-18/46,XX,r(18)/46,XX,dicr(18)]. Although ring chromosome 18 phenotype has been known for a long time, this is the third reported patient with a dicentric ring chromosome 18 mosaicism. The presented case will contribute to the identification of the genotype-phenotype correlation in chromosome 18 anomalies.     

IDENTIFICATION OF THE Y CHROMOSOME BY THE FLUORESCENCE TECHNIQUE IN AN XY/X0 GONADAL DYSGENESIS

A phenotypic female aged 16 years had sexual hypoplasia, streak gonads and sex chromosome mosaicism. She was XY in peripheral blood cultures and XY/X0 in Fallopian tube tissue and in skin cultures. A definite identification of the XY line was made by the fluorescence technique which showed a fluorescent section corresponding to the distal segment of the long arm of one of the five achrocentrics.     

The effects of Down syndrome and other chromosomal abnormalities on survival and management in oesophageal atresia

Recognisable chromosomal abnormalities occur in over 5% of patients with oesophageal atresia (OA). In a review of 670 patients with OA chromosomal abnormalities were identified in 35 (5.2%); of whom 16 had trisomy 18 and 12 had trisomy 21. In patients with trisomy 18, the diagnosis should be suspected on clinical grounds and confirmed on analysis of chromosomes; no active treatment of the OA is justified because of the extremely poor prognosis. In Down syndrome (DS) 50% will have pure OA with no tracheo-oesophageal fistula. In addition, many of these infants will have associated anomalies typical of those normally seen in DS, eg., Hirschsprung's disease, duodenal atresia, and congenital heart disease. Despite treatment, OA with DS has a high mortality.