Biomedical subjects
Publications and source records attributed to Y Gillerot.
A newborn male presenting with a peculiar appearance, hypertonia, a flexum attitude, hypospadias and skeletal abnormalities was found to bear a r 9 chromosome. A phenotypic distinction between early and late presenting forms is discussed.
A case of an alobar holoprosencephaly with cyclopia diagnosed by prenatal ultrasound is reported. At 23 weeks of gestation, abortion was performed. The holoprosencephalic aborted foetus was studied as completely as possible. Skull X-rays, cranial computed tomography, and magnetic resonance images are discussed and compared with the necropsy findings.
The purpose of this study was to compare the changes observed over 4 years in the prenatal diagnosis of genetic diseases and congenital malformations by amniocentesis (AC) and trophoblast biopsy (TB). Between January 1, 1986 and December 31, 1989, 2,591 requests were recorded in a wide geographical area. A general increase in the number of cases per year was observed (414 in 1986, 870 in 1989). The number of requests for TB has distinctly raised in absolute values (14 cases in 1986, 250 in 1989), as well as in relative values compared with AC (3.5% in 1986 40% in 1989). The number of foetal abnormalities detected has tended to diminish with AC (3%) and to increase with TB (4%). At the time of sampling, there was no significant difference in the mothers' mean age between AC (33.9 years) and TB (36.4 years).
A 21-year-old male with mental retardation, short stature, almond-shaped eyes, small downturned mouth, and coned epiphyses is presented. The clinical presentation, as well as the metacarpal phalangeal pattern profile, was similar to the affected members of a family reported by Hunter et al.: (Hunter et al.: J Med Genet 14:430-437, 1977). In addition, many features of our patient resembled Ruvalcaba syndrome. However, skeletal abnormalities were different. A reciprocal translocation was also observed in 3 members of our patient's family.
The absence of the trachea is a rare and always lethal congenital malformation. Temporary survival depends on ventilation through the esophagus. We report our experience with a newborn who presented this unusual tracheal abnormality in association with cardiac malformation.
The evolution of the gonads during intra-uterine development has been followed by immunohistochemical demonstration of placental-like alkaline phosphatase (PLAP) at the germ-cell level. PLAP immunopositivity was restricted to the limited period when germ cells were not surrounded by granulosa or Sertoli cells. Abnormal fetuses or neonates presenting with chromosomal anomalies frequently had disorganized gonads where germ cells retained their membrane PLAP immunopositivity. This abnormal immunopositivity is similar to that expressed by abnormal germ cells in testicular in situ carcinoma, in gonadoblastoma (case of 45,XO/46,XY mosaic) and in seminoma. The pattern of positivity for other germ-cell tumours was highly variable. We suggest that in abnormal gonads, dysgenetic or neoplastic, an early embryonic property is retained by abnormal germ cells. Its importance in the process of neoplastic induction remains to be defined.
The Marshall-Smith syndrome is characterized by accelerated skeletal maturation, failure to thrive and dysmorphic features. This report describes the 17th published case of this rare disorder.
A new case of Beemer short-rib lethal dwarfism is presented in a 27 weeks fetus with discussion of the radiological and clinical pecularities. Differential diagnosis with other short-rib-polydactyly syndromes is briefly developped.
A newborn male, born to Turkish first cousins, presented with severe pre- and postnatal growth retardation. Weight was 800 g at term. Salient clinical features were dwarfism with moderate limb shortening, microcephaly, hirsutism, facial dysmorphism including prominent small cloudy eyes, large nose with high nasal root, retrognathism and low-set ears. Radiologic abnormalities included huge clavicles, dysplastic vertebrae and enlargement of proximal metaphyses with medial spurs.
We report two sibs with an undescribed MCA/MR syndrome. Both had a 46,XY chromosome constitution. The first patient is profoundly mentally retarded. Clinical features include short stature, coarse face, deep set eyes, microphthalmia, large ears, gynecoid obesity, imperforate anus, sacral spina bifida, pseudovaginal perineoscrotal hypospadias, persistence of Müllerian structures, and low gonadotrophin levels. His XY sib was raised as a girl. She was slightly mentally impaired. She had microphthalmia and large ears, and was short. A complete uterus with tubae and a single intraabdominal gonad with testicular organization were removed during infancy. Those anomalies do not fit any previously reported syndrome, although the general aspect of the propositus clearly resembles Borjeson-Forssman-Lehmann syndrome. Inheritance could be either autosomal recessive or X-linked.
The purpose of this review of the literature on nonimmune hydrops fetalis was to evaluate whether recent clinicopathologic studies have modified the relative incidence of the different associated conditions and the management of these pregnancies. We found 600 cases of nonimmune hydrops fetalis published since 1982. These cases were reviewed with particular attention to genetic causes and were compared with a literature review of 298 cases published before 1982. The mean gestational age at diagnosis varied from 24-29 weeks in the recent series, compared with 31-33 weeks in the earlier series. Genetically transmitted conditions accounted for more than 35% of the fetal and maternal disorders associated with nonimmune hydrops fetalis in the recent series, compared with 21% before 1982. The most frequently identified genetic abnormalities in our review were chromosomal disorders (15.7%), alpha-thalassemia (10.3%), skeletal dysplasia (4%), arthrogryposis multiplex syndromes (1.8%), multiple pterygium syndrome (1.5%), and lysosomal storage disorders (1.0%). These results confirm the need for systematic chromosome analysis in fetuses with nonimmune hydrops. From this review, we conclude that prenatal noninvasive and invasive techniques combined with detailed pathologic studies have improved the accuracy of diagnosis of the underlying causes of nonimmune hydrops fetalis and have influenced the management of these pregnancies.
We report on 2 unusual cases of the campomelic syndrome, the first being a fetus in whom the diagnosis was suspected in the 18th week and confirmed sonographically at 20 weeks. The second case concerns a 5 year old 46, XY girl with an exceptional longevity and a relatively favorable evolution.
Explore the source record for details and available documents.
Five hundred children and adolescents affected by mild mental retardation were studied together with their families with regard to a number of psycho-social, medical and genetic factors. Statistical studies were performed with these data and showed that this apparently homogeneous population could in fact be divided into three subgroups. The first and by far the largest group (66%) was constituted by a clinically normal population but in whom adverse social and cultural factors were dominant. In the second subgroup (20%) the mental retardation was much more pronounced (IQ of 50----65) and the socio-cultural and socio-economic levels were particularly low. Finally, organic causes (prematurity, dystocic, labour, etc.) seemed to constitute the principal factor explaining the retardation observed in the third subgroup (14%). The second subgroup comprising of 50 children and their families, were observed more closely; in this group 20 cases of known genetic diseases were found.
Explore the source record for details and available documents.
This paper outlines the problem of major malformations of the urinary tract, their frequency and their etiology. It is based on data analysis of 900 neonatal autopsies performed in our center from 1978 to 1987. These major malformations are often lethal and they can essentially be separated into disorders of the kidney and malformations of the lower urinary tract. Single-gene disorders are often seen in the former whereas the second group is more likely to be multifactorially controlled. We do insist on the importance of a strict collaboration between pathologists and geneticists.
Between 1974 and 1987, 232 translocation carriers have been detected in our Center; they belong to 144 different families. Indications for chromosome analysis were the following: familial studies in relation with a patient suggesting a chromosome anomaly (25.4%); mental retardation with or without malformations (24.6%); 2 or more spontaneous abortions (17.2%); infertility problems, mainly male (16.4%); genetic counseling for a non-chromosomal disease (9.5%); prenatal diagnosis in risk pregnancies (6.9%). The chromosome anomalies detected were the following; balanced Robertsonian fusions (114 cases = 49.1%); balanced translocations (74 cases = 31.9%); unbalanced translocations, Robertsonian fusions included (44 cases = 19%). Two groups may be distinguished: the first one confirms data already known, such as high frequency of balanced translocations in couples with multiple abortions, or in infertile males. The second group on the contrary shows more unusual observations: 4 cases of standard trisomy 21 born to young parents carriers of a balanced translocation not involving chromosome 21; 5 cases of trisomy 13 with 46 chromosomes and a Robertsonian fusion, born to parents carriers of a t(13q; Dq) (twice the mother and thrice the father); 14 cases of apparently balanced translocations, however with an abnormal phenotype; and finally 22 cases of balanced translocations incidentally detected during the course of investigations in patients with a genetic problem generally not associated with a chromosome defect.
The EUROCAT programme is a concerted action of the European Economic Community for the epidemiologic surveillance of congenital anomalies. Surveillance is based on a network of regional registries coordinated by a central registry. The programme started in 1979 and by 1987, 23 centres were participating, covering together more than 300,000 births per year. The surveillance process implies the selection of the anomalies possibly associated with environmental teratogens or mutagens, the definition of abnormal variations in the rate of these anomalies (the alarms), the establishment of base-line rate and the continuous monitoring of rate. The programme is evaluated by reference to four criteria: the sensitivity of the system in detecting teratogens or mutagens, the specificity of alarms, the rapidity in warning of alarm and in investigating their causes, and the programme efficiency expressed as its cost-utility ratio.