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M E Pembrey

Publications and source records attributed to M E Pembrey.

At least 55 records · Page 3Linked to original sources
PubMed1991

X linked alpha thalassaemia/mental retardation: spectrum of clinical features in three related males.

We describe three males (two brothers and a cousin) who have the X linked alpha thalassaemia/mental retardation (ATR-X) syndrome. The diagnosis, originally suspected in the brothers because of similarity in dysmorphic features to previous cases, was confirmed haematologically in the surviving brother. The cousin has less typical dysmorphism and a virtually normal routine blood count, but haemoglobin H inclusions were found in his red blood cells showing that he has the same condition. This report expands the clinical phenotype of the ATR-X syndrome and emphasises that a normal blood count does not exclude the diagnosis.

Adolescent↗
PubMed1991

Microtia and short stature: a new syndrome.

Bilateral microtia, absent patellae, short stature, poor weight gain, and characteristic facial features are described in two female sibs. Other skeletal anomalies included complete habitual dislocation of the elbow, slender ribs and long bones, abnormal modelling of the glenoid fossae with hooked clavicles, and clinodactyly. Bone age was significantly delayed and there was flattening of the epiphyses. This unusual combination of features has many similarities to the syndrome described by Hurst et al.

Abnormalities, Multiple↗
PubMed1990

Cohort of genes.

Explore the source record for details and available documents.

Cell Line↗
PubMed1990

The major cystic fibrosis mutation in a British population.

We have studied 72 families with at least one child with cystic fibrosis (CF); they were referred because they had requested prenatal diagnosis in a future pregnancy. The delta F508 mutation was found in 108/140 CF chromosomes (77%). In 41/72 families (57%), both parents carried a deleted chromosome and the child was doubly deleted. In only 4 families, 2 of them being consanguineous, did neither parent carry a deleted chromosome. Meconium ileus was associated with children who were delta F508/delta F508, delta F508/non-deleted and non-deleted/non-deleted.

Cystic Fibrosis↗
PubMed1990

Possible genetic heterogeneity in X linked hypohidrotic ectodermal dysplasia.

Hypohidrotic ectodermal dysplasia has been mapped to Xq11-q13 by linkage studies and by a translocation in a manifesting female. We report a family with hypohidrotic ectodermal dysplasia in which the disease did not segregate with this region of the X chromosome as expected. Ten DNA probes which are localised between Xp11 and Xq22 were used in the investigation. The difficulties in diagnosing the carrier state in this condition and the possibility of non-allelic heterogeneity are discussed.

Chromosome Mapping↗
PubMed1989

Kyphomelic dysplasia.

A case of kyphomelic dysplasia is reported in a boy followed up over three years. The most striking feature of this recessively inherited generalised bone dysplasia is marked angulation of the femora, associated with short stature, bowing and shortening of other long bones, metaphyseal changes in infancy, flared ribs, small thoracic cage, and platyspondyly. The good prognosis regarding motor and intellectual development in this condition is stressed and the association with cleft lip and palate is described for the first time.

Bone Diseases, Developmental↗
PubMed1988

Use of X chromosome inactivation analysis to establish carrier status for X-linked severe combined immunodeficiency.

Analysis of X chromosome inactivation in T-lymphocyte DNA from two obligate carriers of X-linked severe combined immunodeficiency showed a non-random pattern. This method was then used to establish carrier status in at-risk females in X-linked pedigrees. It was further used to differentiate between X-linked and autosomal recessive inheritance of the disease when the mode of inheritance was not clear from the pedigree. In addition, a mother of a boy affected by the sporadic form of the disease was found to have non-random X inactivation in her T lymphocytes and she is therefore a carrier of the X-linked disease.

Chromosome Mapping↗
PubMed1988

Risk estimation and screening in families of patients with medullary thyroid carcinoma.

Many gene carriers for multiple endocrine neoplasia type 2a (MEN 2a) do not manifest the disease, even into old age. Thus, a negative family history in a patient presenting with medullary thyroid carcinoma does not reliably exclude familial disease. Data are reported for the probability that the MEN 2a gene will either have manifested clinically or be detectable by stimulated calcitonin screening by a given age. These probabilities can be used to calculate individual risks and to guide screening.

Adolescent↗
PubMed1988

Service experience using DNA analysis for genetic prediction in Duchenne muscular dystrophy.

In August 1985 we instituted a carrier and prenatal testing service for Duchenne muscular dystrophy (DMD) using direct DNA analysis. The experience over the first nine months is described. We have analysed samples for RFLPs from 154 people including 53 women at risk of being DMD carriers from 37 families. We used the probes pERT87.8 (BstXI and TaqI polymorphisms), 87-15 (TaqI polymorphism), and pXJ1.1 (TaqI polymorphism). Forty-one of the women have had their risks altered. We found one deletion (pERT87-8) out of 23 DNA samples analysed from affected boys. We used a recombination fraction of 0.05 in risk calculations but did not detect any known crossovers. In nine of the families there is only an isolated case of DMD. In families where we have not been able to alter the risk of the women being a carrier (for example, because all brothers are dead), we have offered prenatal exclusion and have carried out one first trimester prenatal diagnosis on this basis. Lowering the risk of an affected fetus to less than 2.5% appears to be a satisfactory situation for many (most) of the women involved and seems to justify the introduction of genetic prediction based on single intragenic probes despite the 5% recombination frequency.

DNA↗
PubMed1988

Family screening in medullary thyroid carcinoma presenting without a family history.

Systematic screening of the families of a series of 39 patients with apparently sporadic medullary thyroid carcinoma detected seven new cases in four families. A negative family history in a patient presenting with medullary thyroid carcinoma is not reliable in excluding familial disease, and family screening should be considered for new patients with medullary thyroid carcinoma.

Adolescent↗
PubMed1987

Prenatal diagnosis of X-linked choroideremia with mental retardation, associated with a cytologically detectable X-chromosome deletion.

We describe a family in which an X-chromosome deletion is segregating with choroideremia, and X-linked recessive condition. The DNA sequences DXYS1 and DXS3, defined by the probes pDP34 and 19.2 respectively, are absent in the affected male (who is also mentally retarded), and hemizygous in his mother and in his carrier sister, who presented early in pregnancy. Analysis of chorionic villus DNA formed the basis of prenatal exclusion of choroideremia in her male fetus. In three female relatives, studied with late-labelling techniques, the deleted X was preferentially inactivated in 86-100% of cells studied. This family confirms the localisation of the choroideremia locus to within Xq13----21, and places the loci for anhidrotic ectodermal dysplasia and the X-linked immunodeficiencies outside this region.

Choroid↗
PubMed1987

The impact of DNA analysis on fetal diagnosis.

There has been rapid progress in mapping disease-specific gene loci to particular chromosomal regions and in cloning the relevant genes or DNA sequences that can act as genetic markers. These advances will have an impact on fetal diagnosis of monogenic disorders for a number of reasons, the most important being the ability to use chorionic villus DNA taken in the first trimester to make a fetal diagnosis, no matter how tissue-specific the gene defect. Diagnosis based on analysis of the protein gene product requires a tissue that is expressing that gene. In a few disorders the mutation within the gene can be detected directly, but more often an approach, termed gene tracking, will be required to predict the genotype of the fetus. This requires blood samples from a few family members and the analysis must be carried out prior to the chorion sampling and ideally before the pregnancy. This initial family study is required to determine whether gene tracking is possible in that particular family. A number of potential problems, both technical and in clinical management, highlight the need for close collaboration between clinical geneticists, molecular geneticists and obstetricians.

Chromosome Aberrations↗
PubMed1987

Multiple pterygium syndrome: evolution of the phenotype.

The clinical features of the multiple pterygium syndrome are multiple congenital joint contractures, multiple skin webs, camptodactyly, vertebral anomalies, short stature, ptosis, and antimongoloid eye slant. We present 11 new cases to show the evolution of the full phenotype from birth and to confirm autosomal recessive inheritance. We emphasise morbidity secondary to respiratory impairment and that conductive deafness may be part of the syndrome.

Child↗