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Biomedical subjects

N Philip

Publications and source records attributed to N Philip.

At least 109 records · Page 6Linked to original sources
PubMed1991

Epidemiological study of congenital diaphragmatic defects with special reference to aetiology.

Congenital diaphragmatic defects (CDD) are easily accessible to ultrasonographic diagnosis. In spite of progress in the management of prenatally detected cases, the mortality rate for CDD remains high. The prognosis depends mainly on the severity of fetal lung hypoplasia but is also linked to the associated malformations. We report on 77 cases of CDD ascertained between 1982 and 1988 from 136,161 consecutive births in the Bouches du Rhône area. The spontaneous perinatal mortality rate was 61% with 28 early post-natal deaths and 14 stillbirths. Eight pregnancies were terminated after prenatal diagnosis. The diaphragmatic defect was associated with other congenital anomalies in 33 cases, more often among stillborn (92.8%) than liveborn infants (23.6%). A chromosomal abnormality was present in 9 cases representing 11.6% of all CDD and in 27.2% of cases with other anomalies. A Mendelian disorder was present in 9 cases (eight Fryns syndrome and one Fraser syndrome). This study underlines the necessity of a systematic work up of prenatally diagnosed cases, including fetal karyotyping and analysis of associated malformations in order to adapt the management of the pregnancy and delivery to the prognosis.

Abnormalities, Multiple↗
PubMed1991

Holoprosencephaly-polydactyly ('pseudotrisomy 13') syndrome: a syndrome with features of hydrolethalus and Smith-Lemli-Opitz syndromes. A collaborative multicentre study.

A syndrome of holoprosencephaly and postaxial polydactyly, associated with hydrocephalus, heart defect, adrenal hypoplasia, and other visceral malformations, has been observed in five unrelated children with normal chromosomes. Clinical overlap with lethal acrodysgenital dwarfism (Smith-Lemli-Opitz syndrome type II) and hydrolethalus syndrome is discussed. Recessive inheritance seems likely.

Abnormalities, Multiple↗
PubMed1990

[The usefulness of the level of alpha-fetoprotein (AFP) and electrophoresis of amniotic acetylcholinesterase for the detection of selected congenital malformations].

We report the experience of a prenatal diagnosis center for routine amniotic alpha-fetoprotein and acetylcholinesterase analysis during the second trimester of pregnancy in 4,411 pregnant women. The identification of neural tube defects, for a population with a low prevalence, and of other major birth defects was studied. The pertinence of practising a fetal karyotype when these tests were abnormal was also estimated. For amniotic acetylcholinesterase, 262 electrophoreses were done. Sensitivity, specificity and positive predictive values of the tests were calculated. One fetus out of 4 carries an unbalanced chromosomal anomaly if amniotic alpha-fetoprotein is higher than the mean plus 2 standard deviations. This result shows the need for a fetal karyotype for all these cases.

Acetylcholinesterase↗
PubMed1989

Study of a family with a fragile site of the X chromosome at Xq27-28 without mental retardation.

The fragile site Xq27-28 was observed in several individuals of a large family. It is expressed at a high frequency among the carrier females, even as adults, and in one clinically normal male. None of the members of this family is affected with the mental retardation normally linked to this fragile site. Cytogenetic and flanking DNA marker polymorphism studies suggest a possible dissociation between the fragile site and clinical expression of the disease.

Adult↗
PubMed1989

Fryns syndrome: report on 8 new cases.

The name Fryns syndrome was given to a new variable multiple congenital anomaly syndrome, almost always lethal, described in 1978, and now known to be autosomal recessive. Since that date, 20 patients have been reported in the literature. We describe 8 new cases, 6 of which were diagnosed in a series of 112,276 consecutive births (livebirths and perinatal deaths). The prevalence of this syndrome can be estimated to be around 0.7 per 10,000 births. These new cases confirm that the most frequent anomalies are diaphragmatic defects, lung hypoplasia, cleft lip and palate (often bilateral), cardiac defects (septal defects and aortic arch anomalies), renal cysts (type II, III or IV), urinary tract malformations, and distal limb hypoplasia. Most patients also have hypoplastic external genitalia and anomalies of internal genitalia (bifid or hypoplastic uterus, immature testes). The digestive tract is also often abnormal: duodenal atresia, pyloric hyperplasia, malrotation and common mesentery are present in half of the patients. When the brain was examined, more than half were abnormal (Dandy-Walker anomaly and agenesis of corpus callosum). A few patients demonstrated cloudy cornea. We examined the eyes of three patients histologically: two of them showed retinal dysplasia with rosettes and gliosis of the retina, thickness of posterior capsula of lens and irregularities of the Bowman membrane. Four of our cases were diagnosed prenatally between 24 and 27 weeks. It is to be expected that prenatal diagnosis will be made often and earlier in the future, as the spectrum of anomalies of the Fryns syndrome can easily be evidenced by sonography.

Abnormalities, Multiple↗
PubMed1989

[Linkage studies in Emery-Dreifuss muscular dystrophy].

We report linkage studies between Emery-Dreifuss muscular dystrophy (EDMD) and polymorphic probes from the long arm of chromosome X in two pedigrees. The results don't show significant linkage but are consistent with previous localisation of EDMD in Xq28. Further studies will be necessary to apply molecular biology to genetic counselling and prenatal diagnosis of this disease.

DNA Probes↗
PubMed1988

Dissociation between mental retardation and fragile site expression in a family with fragile X-linked mental retardation.

We report an extended family in which two brothers with a fragile X chromosome are mentally retarded while a third brother with the fragile site is both phenotypically and mentally normal. The study of six probes detecting restriction fragment length polymorphisms on either sides of the fragile site Xq27 confirmed that the fragile X regions inherited by these three brothers were identical from DXS102 to the telomere. These data highlight the heterogeneity of the fragile X syndrome, which is discussed in the framework of the different hypotheses previously proposed.

Child↗
PubMed1988

The acrocallosal syndrome.

The acrocallosal syndrome is characterized by peculiar facies, polydactyly of the hands and/or feet, and agenesis of the corpus callosum. Two unrelated 4-month-old boys with consanguineous parents are reported. Both exhibited the main features of the syndrome, but neither of them had partial reduplication of halluces. Consequently, pre-axial polydactyly of the feet is not considered to be a constant feature of the acrocallosal syndrome. The similarity of the acrocallosal syndrome to Greig syndrome is discussed, but it appears unlikely that the two syndromes are identical. Consanguinity in both cases is a strong argument in favour of a recessive mode of inheritance.

Agenesis of Corpus Callosum↗
PubMed1988

Trisomy 21q223 and Down's phenotype correlation evidenced by in situ hybridization.

Two cases of trisomy 21q223 with the Down's phenotype were analysed by in situ hybridization with specific probes previously located in the sub-bands 21q221 (SOD-A) and 21q223 (BCEI and COL6A). These studies give evidence that the clinical picture of Down's syndrome is at least to a great extent correlated with trisomy for the 21q223 band.

Adolescent↗
PubMed1988

Achondroplasia in sibs of normal parents.

A new case of recurrent achondroplasia in sibs of normal parents is reported. Two sisters and a half sister were affected. Various mechanisms can be postulated to account for unexpected recurrence of achondroplasia in the same sibship. Germinal mosaicism and unstable premutation are discussed here.

Achondroplasia↗
PubMed1988

[The Beals-Hecht syndrome (congenital contractural arachnodactyly) revealed in a neonate].

A new case of congenital contracture arachnodactyly (CCA) revealed in the neonatal period is reported. CCA is a dominantly inherited syndrome associating arachnodactyly, kyphoscoliosis, multiple congenital joint contractures and crumpled ears. This condition differs from Marfan's syndrome by the usual absence of visceral involvement, although cardiac complications are possible. The neonatal forms result from new mutations are are generally severe.

Aortic Diseases↗
PubMed1988

[Marshall syndrome. 2 new cases].

Two new familial cases of Marshall syndrome are reported. The main features of this rare syndrome are outlined. Its possible relationship with Stickler syndrome is discussed.

Abnormalities, Multiple↗
PubMed1988

[Balanced chromosome rearrangements with abnormal phenotype].

27 cases in which apparent balanced chromosomal rearrangements (reciprocal and translocations and pericentric inversions) are associated with phenotypic abnormalities are reported and compared with the previous published cases. Almost all patients display mental retardation and a non specific dysmorphism. Genetic counseling is different whether the abnormality is inherited or de novo. When an unexpected structural rearrangements is found in fetal cells, the attitude depends on the results of the parent's chromosomal study.

Chromosome Aberrations↗
PubMed1987

Monosomy 21: a new case confirmed by in situ hybridization.

A new case of total monosomy 21 in a newborn is described. The diagnosis was first made using the cytogenetic data; it was then confirmed by the dosage of copper-superoxide dismutase (SOD-1) which showed a 50% decrease. In situ hybridization with a probe previously assigned to chromosome 21 was used to rule out the possibility of a partial monosomy with an unbalanced reciprocal translocation.

Chromosome Deletion↗
PubMed1985

Clinical, chromosomal and enzymatic studies in four cases of rearrangements of chromosome 7.

We report here four cases of unbalanced chromosomal rearrangements involving partial monosomies and trisomies of chromosome 7. The quantitative expression of diaphorase 2 (DIA-2), beta-glucuronidase (GUS-beta) and argino-succinate-lyase (ASL) were measured in these patients and compared with controls. The results suggest that the DIA-2 locus is in the band 7p221----q21, the GUS-beta locus in the band 7p22----q21 and the ASL locus in the band 7p221----q22.

Argininosuccinate Lyase↗
PubMed1985

[Small supernumerary chromosomes].

We report 23 cases of small supernumerary chromosome examined at the Medical Genetics Center of Marseille. Genetic counselling is depending on the origin of the additional chromosomal material. Among the different cytogenetic technics which are useful in such an identification in situ hybridisation is a new technic very helpful in some cases, especially iso p18.

Chromosome Aberrations↗