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Biomedical subjects

A C Berry

Publications and source records attributed to A C Berry.

At least 37 records · Page 2Linked to original sources
PubMed1992

Chromosomal abnormalities in Dupuytren's contracture and carpal tunnel syndrome.

The cytogenetics of cell cultures derived from Dupuytren's tissue, adjacent palmar fascia and palmar skin from patients undergoing fasciectomy have been examined and the results compared to cell cultures established from palmar fascia, flexor retinaculum and palmar skin of patients undergoing carpal tunnel decompression. Chromosomal abnormalities were detected in cell cultures from Dupuytren's tissue in eight of the nine patients studied. Clones of cells trisomic for chromosome 8 were found in five of the nine patients. Trisomy 8 was also present in two of five flexor retinaculum cultures from carpal tunnel syndrome cases. These findings in both Dupuytren's contracture and carpal tunnel syndrome suggest the presence of chromosomal instability in the palmar fascia. The significance of the chromosomal abnormalities is however unclear, but they indicate a possible common pathway in the onset of pathological fibrosis.

Adult↗
PubMed1992

A new X linked syndrome with mental retardation and craniofacial dysmorphism?

We present a syndrome manifested in two half brothers and their two maternal aunts which is characterised in the two boys by severe mental retardation and craniofacial dysmorphism (broad, coarse features and marked plagiocephaly with flattened occiput), and in the aunts merely by moderate mental retardation without dysmorphic features. The brothers do not seem to fall into any previously described X linked syndrome with mental retardation.

Abnormalities, Multiple↗
PubMed1992

Simultaneous partial monosomy 10p and trisomy 5q in a case of hypoparathyroidism.

We report a case of monosomy for the distal region of the short arm of chromosome 10 (p13----ter) associated with trisomy for the terminal region of the long arm of chromosome 5 (q35.2----ter) that had originated from adjacent 1 segregation of a maternal reciprocal balanced translocation (5;10)(q35.2;p13). We review the clinical findings of previously reported cases of both partial monosomy for 10p and of partial trisomy for 5q, but to our knowledge there are no previous reports of the effects of these two chromosome anomalies together. Clinically our patient showed features typical of partial monosomy for 10p (including hypothyroidism) rather than partial trisomy 5q.

Chromosome Aberrations↗
PubMed1991

A new form of autosomal dominant arthrogryposis.

We report a man and his son with congenital limb contractures, limitation of ocular movements, and an electroretinal abnormality. They appear to have an autosomal dominant form of arthrogryposis, distinguishable from other previously classified forms of this disorder.

Adult↗
PubMed1991

Two cases of interstitial deletion 1p.

We report two cases of interstitial deletion of the short arm of chromosome 1. The first was a 10 year old boy whose karyotype was 46,XY,del(1) (p22.1p31.2); the second was a 6 month old boy with a chromosome complement of 46,XY,del(1) (p22.3p31.3). A number of the malformations observed were common to both cases. There has been one previously reported case with the same breakpoints as our case 1 and a phenotype that was strikingly similar.

Abnormalities, Multiple↗
PubMed1991

Triphalangeal thumb with delta phalanx in a case of Klinefelter's syndrome.

We report a case of Klinefelter's syndrome owing to maternal meiotic error associated with triphalangeal thumb and delta phalanx bilaterally. There are no previous reports of similar cases and triphalangism with delta phalanx abnormalities of both thumbs might therefore be considered a further, but rare, manifestation of this aneuploidy.

Child, Preschool↗
PubMed1990

Yunis-Varon syndrome with severe osteodysplasty.

We report two male sibs and two female sibs from separate families, both with normal parents, who had a lethal condition with features of the Yunis-Varon syndrome and radiological signs of severe osteodysplasty. Autosomal recessive inheritance is likely in both families. The additional features described represent further delineation of the phenotype of the Yunis-Varon syndrome.

Bone Diseases, Developmental↗
PubMed1989

Prenatal diagnosis of a case of tetrasomy 9p.

A male fetus with tetrasomy 9p [47,XY, + i(9p)] is presented. The cytogenetic interpretation of the marker chromosome was confirmed by assessing the activity of the enzyme galactose I-phosphate uridyl transferase. The clinical findings of the case show features in common with previously reported cases.

Adult↗
PubMed1989

Spontaneous and induced chromosome breakage in chorionic villus samples: a cytogenetic approach to first trimester prenatal diagnosis of ataxia telangiectasia syndrome.

Patients with ataxia telangiectasia (AT) syndrome exhibit a high level of spontaneous chromosome aberrations, with hypersensitivity to gamma radiation and radiomimetic chemicals at the chromosomal and cellular level. Previously pregnancies at risk for AT have been screened solely by analysis of amniotic fluid samples. In this report we describe a cytogenetic approach to the prenatal diagnosis of AT using chorionic villus sampling (CVS). Levels of spontaneous and induced (gamma radiation and bleomycin) chromosome breakage were established in direct, semidirect, and culture preparations of CVS samples from normal pregnancies. The methods developed were then successfully applied to the screening of a pregnancy at risk for AT. Semidirect preparations showed normal levels of chromosome breakage, and this result was further confirmed in chorion, amniotic fluid, and lymphocyte cultures. In chorion villus samples, gamma radiation is probably the easiest and most reliable way of discriminating between unaffected fetuses and those with AT.

Adult↗
PubMed1989

Unknown syndrome: congenital heart disease, choanal stenosis, short stature, developmental delay, and dysmorphic facial features in a brother and sister.

We report a brother and sister born to non-consanguineous parents. They both had an atrial septal defect and ventricular septal defect. In addition they had short stature, microcephaly, developmental delay, and the same dysmorphic facial appearance of a short nose, epicanthic folds, a long philtrum, and narrow upper lip. The boy had bilateral choanal hypoplasia and stenosis.

Abnormalities, Multiple↗
PubMed1988

PRUFILE: a clinical and laboratory database for the genetics centre.

The growing complexity and volume of workload in a Clinical Genetics Centre can rapidly swamp the available clerical facilities. The multiuser database described gives facilities not only for administrative control and documentation but also for the production of data for clinical and scientific analysis. The close link between clinical and laboratory databases gives great versatility and easy expansion as new tests and disciplines are applied to clinical genetic problems.

Clinical Laboratory Information Systems↗
PubMed1986

Three children with partial trisomy 1q and partial monosomy 3p.

We report a kindred in which three children suffer from partial trisomy 1q and partial monosomy 3p, transmitted by a balanced translocation which is maternal in one family and paternal in the other. The clinical features of the three children are similar and include severe mental handicap and severe scoliosis in the older two.

Child↗