This review of paracentric inversions in man includes what we know of the behaviour and reproductive consequences of paracentric inversions from other species. Observations of naturally occurring inversions in several species of plants and animals and results of experiments with mutagenically induced inversions in the mouse are discussed. From a ...

Although posthemorrhagic hydrocephalus has been observed in premature infants, few cases of its intrauterine occurrence in fetuses have been reported. We report a case of posthemorrhagic hydrocephalus in a fetus with severe tachycardia. This case indicates that its possible occurrence should be considered in a case of a preterm fetus ...

We report on the clinical and cytogenetic findings in 7 cases of inverted duplication of region 8p11.2p23. The phenotype of inv dup (8p) compiled from this series and the literature (N = 29) consists of severe mental retardation (100%), minor facial alterations (97%), agenesis of the corpus callosum (80%), hypotonia ...

We report on two cases of partial monosomy 21 and review cases with a partial or an apparently full monosomy 21. In situ hybridization and/or molecular studies appear to be necessary tools to study imbalance in such a small chromosome and to perform further genotype-phenotype correlations. The segregation mode in ...

A large intrapericardial teratoma was found at necropsy in a 38-week stillborn fetus, in which prenatal diagnosis of hydrops fetalis and an echogenic cardiac mass had been made. Clinical and pathological data are reported. In utero intrapericardial teratomata lead to different outcomes depending on whether fetal hydrops is associated. When ...

The prenatal sonographic diagnosis of fetal finger abnormalities was recorded in a study population of 20,000 pregnant patients. All scans were performed with a vaginal transducer at 13 to 17 weeks' gestation. The following abnormalities were observed: six cases of polydactyly, three of syndactyly, nine cases of overlapping fingers, two ...

This article reports some reference to Switra (vitiligo) and its treatment from the Veda.

Fifty-two second-trimester and eight third-trimester (> 28/40) autopsies with clinical or pathological evidence of oligohydramnios sequence ('Potter's syndrome') were reviewed. Twenty-eight cases had renal anomalies (71 per cent in terminations following prenatal ultrasound), 27 had no renal malformation (35 per cent with chorioamnionitis), and five had external assessments only. In ...

Cytogenetic analysis of a case of extraskeletal myxoid chondrosarcoma revealed a reciprocal translocation between 9q and 22q in almost all metaphases analyzed. Structural rearrangements involving 9q and 22q have been reported previously in three cases of extraskeletal myxoid chondrosarcoma. The breakpoints on chromosomes 9 and 22 in the present case ...

BACKGROUND: There has been one reported case of porencephaly diagnosed postnatally as a result of amniocentesis. We report the first antenatal diagnosis of porencephaly, which apparently resulted from penetration of the fetal skull during amniocentesis. CASE: A 37-year-old woman had genetic amniocentesis at 16 weeks' gestation. The fetal skull was ...

We report on an individual with severe mental retardation, seizures, microcephaly, unusual face, scoliosis, and cleft feet and cleft right hand. The chromosomal study showed a proximal interstitial deletion 7q (q11.23q22). From our review of the literature, 11 patients have been reported with ectrodactyly (split hand/split foot malformation) and proximal/intermediate ...

The antenatal diagnosis of microcephaly is most commonly made in the third trimester. Biometric measurements of the head of three or four standard deviations below the mean are suggestive of microcephaly. We report a case of microcephaly where abnormalities in intracerebral architecture, i.e. cerebellar hypoplasia, were noted early in the ...

The case of an 8 month-old female infant with non-mosaic Down-Turner double aneuploidy is reported. She had Down facies without stigmata of Turner syndrome. A review of 22 previous reported cases revealed mosaicism in all cases, either 21 mosaic or X mosaic. Our patients is the first reported case of ...

Constriction of the umbilical cord by an amniotic band is a rare entity, associated with a high rate of fetal mortality and congenital anomalies. A case occurred with early detection and successful intervention for fetal compromise caused by the amniotic band, which was associated with first-trimester amniocentesis. This is the ...

The molecular basis of alpha(0) thalassemia were studied in 95 patients who attended at Srinagarind Hospital, Khon Kaen University during September 1993-January 1994. From these 95 patients, hemoglobin electrophoresis indicated that there were 14 cases with A2AH, 21 cases with A2ABart'sH, 6 cases with ConSpA2AH, 31 cases with ConSpA2ABart'sH, 6 ...

Renal agenesis has been reported in the literature in a wide variety of chromosomal abnormalities. Trisomy 22 is frequently seen in first trimester miscarriages but is extremely rare in life-borns. The authors report on a second trimester female foetus with oligohydramnios sequence secondary to bilateral renal agenesis and trisomy 22 ...

Major genes which cause tuberous sclerosis (TSC) and autosomal dominant polycystic kidney disease (ADPKD), known as TSC2 and PKD1 respectively, lie immediately adjacent to each other on chromosome 16p. Renal cysts are often found in TSC, but a specific renal phenotype, distinguished by the severity and infantile presentation of the ...

Over 600 cases with a Y aneuploidy (other than non-mosaic 47,XYY) were reviewed for phenotype/karyotype correlations. Except for 93 prenatally diagnosed cases of mosaicism 45,X/46,XY (79 cases), 45,X/47,XYY (8 cases), and 45,X/46,XY/47,XYY (6 cases), all other cases were ascertained postnatally. Special emphasis was placed on structural abnormalities. This review includes ...

Ductus venosus links the umbilical vein and the portal vein to the inferior vena cava. It is of great significance for the developing fetus but of minor importance to the growing infant where it normally obliterates and is transformed to the ligamentum venosum. An absent ductus venosus implies that the ...

In order to investigate the role of the sonographer in non-obstetric ultrasound, 1046 consecutive non-obstetric ultrasound scans performed by sonographers were audited. In 94% of cases, the report prepared by the sonographer gave an accurate account of the findings. In 6.3% of reports the radiologist provided additional comments, whilst in ...

We analyzed 61 Angelman syndrome (AS) patients by cytogenetic and molecular techniques. On the basis of molecular findings, the patients were classified into the following 4 groups: familial cases without deletion, familial cases with submicroscopic deletion, sporadic cases with deletion, and sporadic cases without deletion. Among 53 sporadic cases, 37 ...

We add two cases of prenatally diagnosed late-onset isolated cystic hygroma to the eight cases reported previously in the English literature. The obstetrical significance, management, and outcome of this entity are reviewed. A retrospective study of late-onset isolated cystic hygromas delivered in one medical centre between 1978 and 1992 was ...

Since the first description by Elliot et al. [1970, Am J Dis Child 119:72-73] of a probable partial deletion of chromosome 10p, 17 other cases have been reported. The phenotypic expression is variable, but the craniofacial malformations constitute a more consistent finding. The 10p deletion syndrome has been associated with ...

We describe the cytogenetic findings in five mucoepidermoid carcinomas (MEC) of the major and minor salivary glands. Three of the five tumors analyzed showed an apparently identical t(11;19)(q14-21;p12). In one case, the t(11;19) was the only common clonal abnormality, while in the other two cases the translocation was found together ...

We report our experience of 15 cases of gastroschisis which occurred between 1981 and 1993. All but one were diagnosed antenatally by ultrasound between 16 and 32 weeks of pregnancy. We made a termination of the pregnancy in 3 cases, for multiple malformations in 2 cases and one case of ...

Sirenomelus is an invariably lethal congenital anomaly characterized by complete or nearly complete fusion of the lower extremities that occurs in 1 of 60,000 births. In about 50% of cases this condition cannot be diagnosed prenatally because of the associated oligohydramnios that precludes a detailed examination of the fetus. We ...

A de novo apparently balanced translocation between chromosomes 7 and 15 with breakpoints in q32 and q15 respectively is reported in a female child. Clinical features included general growth and psychomotor retardation, feeding problems, microcephaly, low set ears, a short neck, and brachydactyly. These findings suggested possible physical or functional ...

Nematodes of the genus Gnathostoma can cause a spectrum of disease in humans. This includes a distinctive syndrome of intermittent migratory subcutaneous swellings, central nervous system involvement with high morbidity and mortality and occasionally, involvement of other organs. Gnathostomiasis is endemic in southern and eastern Asia, particularly Thailand, but has ...

We reviewed 283 cases of human true hermaphroditism published from 1980 to 1992. Of the 96 cases described in Africa 96.9% showed a 46,XX karyotype. In Europe 40.5% of 74 cases and 21.0% of the patients in North America had chromosomal mosaicism. The 46,XY karyotype is extremely rare (7%) and ...

Chromosomal aberrations are associated with 60% of cystic hygromas and the majority of these are females with a 45,X karyotype. Trisomy 21 has rarely been reported. Six cases of cystic hygromas with trisomy 21 were detected during a 6-month time period in our laboratory. An earlier gestational age of 14 ...

An interstitial deletion of 2q22-q23 was found in a 2.5 year old boy with multiple congenital abnormalities (including Hirschsprung's disease) and severe mental retardation. Comparison with seven additional cases of 2q deletions from the literature does not allow the delineation of a clinically recognizable syndrome. Some of the previously reported ...

The mortality rate in cases of antenatally diagnosed congenital diaphragmatic hernia (CDH) remains high: 80% to 100% mortality was reported in early series and 73% in a more recent series. In addition, the early reports described 100% mortality for cases diagnosed before 24 weeks gestational age. To determine the mortality ...

We report on a recurrent intracranial hemangiopericytoma cytogenetically studied after short-term culture. The tumor had a uniform karyotype 47,XX,add(7)(q21),t(12;19)(q13;q13.3),del(13)(q14q22), +21. Remarkably, one case with an identical reciprocal (12;19) translocation has been previously reported as the sole cytogenetic change in a recurrent retroperitoneal hemangiopericytoma. This nonrandom structural change may characterize a ...

Two cases of prenatal diagnosis of lissencephaly are presented in the context of a series of 118 cases of prenatally diagnosed hydrocephalus. Within this series there was one case of Walker-Warburg syndrome and another of Miller-Dieker syndrome. It is stressed that the cases reported here of ventriculomegaly diagnosed in utero ...

We present prenatal diagnosis and follow-up examination of an individual with a de novo paracentric inversion of the long are of chromosome 14. A literature search documented 19 other cases of paracentric inversion of 14q. The outcome of each of these cases is specified together with that of this current ...

The schizophrenic syndrome may represent a stereotyped response by the developing brain to various insults, including micro-organisms. We review studies that have examined the association between schizophrenia and infectious agents, and examine the current evidence for the hypothesis that exposure to influenza during fetal life increases the risk of later ...

Two cases of dicentric isochromosome X, dic (Xp-), with premature ovarian failure are presented. The karyotype of case 1 is 46,X,dic(X)(qter-->p22::p22-->qter), and of case 2 is 45,X (77.5%)/46,X,dic(X)(qter-->p22::p22-->qter) (22.5%). An abnormal menstrual history including delayed menarche and secondary amenorrhea occurring at under 30 years of age was noted. Hormonal profiles ...

We investigated the etiology of West syndrome (WS) with special reference to prenatal factors in 180 cases. Prenatal cause was the most frequent diagnosis (77 cases, 42.8%), followed by perinatal (25 cases, 13.9%) and postnatal factors (12 cases, 6.7%); 48 cases (26.7%) were of uncertain etiology; eighteen cases (10.0%) were ...

Two cases are reported of patients with deletions of chromosome 5q. Both have familial adenomatous polyposis (FAP) and mild mental retardation. In both, macroscopic polyposis was confined to the proximal colon in adult life (in their thirties) although microscopic adenomatosis was shown in the more distal colon with occasional single ...

The association of the "lemon sign" with myelomeningocele has been well documented. This study was performed to determine if this sign is exclusive to myelomeningocele. The study population included all abnormal fetuses in our data base with this sonographically observed finding, from 1988 to 1991 (total of 23 cases). Twelve ...

A case is reported in which qualitatively, grossly abnormal fetal breathing movements turned out to be indicative of complete tracheal atresia. Fetal breathing movements were vigorous and jerky and of large amplitude; similarly abnormal movements were observed after birth. At postmortem tracheal atresia was diagnosed, in combination with other congenital ...

Posterior urethral valves are an important cause of obstructive uropathy in the newborn. The diagnosis may be suspected on prenatal ultrasonography, the consistent finding being bilateral ureterohydronephrosis together with a thick-walled, persistently full bladder in a male fetus. There may also be variable degrees of oligohydramnios. This paper reports the ...

The main mode of non-invasive prenatal diagnosis of osteogenesis imperfecta (OI) is fetal imaging, either by radiography or detailed ultrasonography. Radiography is more of historical interest and ultrasonography is in practice virtually exclusively used for non-invasive second trimester diagnosis of OI. Both methods have also been reported later in pregnancy ...

Trisomy 21, 18 and 13 are the most common varieties of autosomal trisomy recognized at birth; most of the others lead to spontaneous abortions in the first trimester. Trisomy 9, a rare trisomy, is compatible with life, but, unlike trisomy 21, 18 and 13, the range of manifestations has not ...

The authors report a dysmorphic child with a duplication dir (11)(23-ter) the mildly retarded mother of which is a mosaic for the same abnormality. Similar partial trisomies from the literature all associated with a deficiency of any other autosome are reviewed. While a general karyotype-phenotype correlation is not stringent the ...

Two cases of 14q proximal partial trisomy in sisters from the same family are reported. Clinical features included craniofacial dysmorphism, skin depigmentation, slight anomalies of the limbs, muscular hypertonia, and physical and mental retardation. The third sister had an abnormal phenotype, different from that of her sibs, and proved to ...

We report a case of fetal amelia (limb deficiency). The causes of this anomaly include amniocentesis, amniotic band syndrome, teratogen exposure, or a vascular accident. Recently, chorionic villus sampling has also been implicated in the amputation of an extremity. Although chorionic villus sampling (CVS) was not performed in our case, ...

Wolf-Hirschhorn syndrome (WHS) with partial deletion of the short arm of chromosome 4 has been exceptionally diagnosed in fetuses. We report prenatal diagnosis of five cases of monosomy 4p. The fetuses were karyotyped for severe intrauterine growth retardation (IUGR) diagnosed on routine ultrasound (US). In addition, cleft-lip and palate and ...

We report two cases of nonimmune hydrops fetalis diagnosed prenatally. One fetus died in utero, and the second fetus survived and the infant was discharged from the intensive care nursery at 4 weeks of age. A brief review of the literature and the difficulties in arriving at a diagnosis and ...

Only four cases of fetal gallstones have been reported previously, which implies that this condition is rare. Gallstones in children have been reported more frequently, and it may be that some of these are present in fetal life. Over a 12 month period in this department, seven cases of gallstones ...