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R H Lindenbaum

Publications and source records attributed to R H Lindenbaum.

At least 55 records · Page 3Linked to original sources
PubMed1984

Paracentric inversions in man.

We have reviewed 50 cases of paracentric inversions. Of these 34 were familial with 62 phenotypically normal carrier relatives. Twenty of the 50 were discovered fortuitously. There were two reports of children with easily recognised unbalanced karyotypes resulting from a paracentric inversion in one of the parents. The vast majority of paracentric inversions are harmless. The risk of abnormal children for paracentric inversion heterozygotes is low but increases with the finding of recurrent abortions or abnormal children or both in other carriers in the family. We emphasise the need for caution in interpreting the results of antenatal diagnosis because of the variety of unexpected unbalanced chromosome types that can result from a paracentric inversion, and the difficulty in recognising, with confidence, minute differences (for the detection of which very high resolution banding is required) between apparently similar parental and fetal inversions.

Abortion, Habitual↗
PubMed1981

Benign (non-paroxysmal) familial chorea. Paediatric perspectives.

We describe a non-progressive choreo-athetoid disorder of early onset, present in three families. There were no appreciable abnormalities in pregnancy, during the perinatal period, or in infancy. In each case the family history suggested transmission as an autosomal dominant trait, the gene showing diminished penetrance. Other families have been reported with the disorder and such titles as benign familial chorea, familial essential (benign chorea, or hereditary non-progressive chorea of early onset have been given to it. Our experience suggests that this is not a rare disorder, and that it is one likely to present in the paediatric age group; correct diagnosis is important so that unnecessary investigations are not undertaken, genetic counselling can be given, and proper management advice offered to families and schools.

Child↗
PubMed1980

Dermatoglyphs and chromosome mosaicism in parents of children with trisomy 18.

Parents of patients with Down's syndrome show dermatoglyphic features intermediate between the affected and the normal population. Dermatoglyphs were studied on the parents of 19 cases of trisomy 18, but no similar "intermediate" traits were discovered. The number of cases studied needs to be enlarged before it can definitely be stated that trisomies 18 and 21 differ in this respect.

Chromosomes, Human, 16-18↗
PubMed1979

Muscular dystrophy in an X; 1 translocation female suggests that Duchenne locus is on X chromosome short arm.

A unique combination of a Duchenne-like muscular dystrophy in a girl with a translocation-inversion rearrangement involving an X chromosome and a no 1 chromosome appeared as a result of both gene mutation and chromosome mutation in the mother. The X-autosome rearrangement would permit full expression of an X-linked recessive gene, such as that for Duchenne muscular dystrophy, in a female, and this would satisfactorily explain the characteristic Duchenne-like course of our patient's illness. The simultaneous de novo appearance of the Duchenne mutation and the X;1 rearrange suggests possible sites for the Duchenne locus on the X chromosome short arm (at Xp1106 or Xp2107).

Child↗
PubMed1977

Dispermic origin of a 69,XXY triploid.

Triploidy, 69XXY, was found in a newborn with multiple abnormalities. Conception had occurred shortly after the mother ceased taking an oral contraceptive. The infant carried a pair of 21s with giant satellites; of the parents, only the father carried a giant-satellited 21. This, together with the XXY constitution, suggested a dispermic origin of the triploidy.

Abnormalities, Multiple↗
PubMed1976

Hypophosphataemic osteomalacia and Fanconi syndrome of adult onset with dominant inheritance. Possible relationship with diabetes mellitus.

Adult-onset osteomalacia with multiple renal tubular defects and generalized aminoaciduria is uncommon, and where familial it is characteristically an autosomal recessive disorder. This paper describes a kindred in which the syndrome has appeared in four successive generations, apparently inherited in a dominant manner, and possibly associated with diabetes mellitus. The proposita had hypophosphataemia, renal glycosuria, proteinuria and generalized aminoaciduria, and at the age of 22 developed symptoms of osteomalacia which responded to treatment with oral phosphate. Her father had been similarly affected: renal glycosuria was first noted when he was 24, and 12 years later he developed diabetes mellitus from which he died. One sister, aged 31, has renal glycosuria, aminoaciduria and hypophosphataemia without bone disease. In the three preceding generations at least seven other individuals had crippling bone disease and profound muscle weakness of early adult onset; in four, preterminal polydipsia was recorded, and others had renal glycosuria or diabetes mellitus. Three of the five children in the latest generation have slight proteinuria but not other detectable abnormality. The possible association between these renal tubular defects and diabetes mellitus is discussed.

Adolescent↗
PubMedDate not supplied

Molecular studies of the fragile X syndrome.

We have studied families segregating for the fragile X syndrome for the presence of amplification of the CGG repeat sequence adjacent to the HpaII Tiny Fragment (HTF) island in the FMR-1 gene. We demonstrate that 138/143 fragile X positive, mentally retarded males show a characteristic smear of fragments corresponding to somatic variation in the amplification of the CGG sequence. In 7/8 normal transmitting males (NTM's), we show that there is a small amplification of sequence but no evidence for somatic variation. Defined mutated fragments in the size range found in NTM's are seen in daughters of NTM's. The daughters of these female carriers show either a defined fragment in the NTM size range, a defined larger fragment or a heterogeneous pattern of fragments. In the latter 2 cases the clinical phenotype of the females cannot easily be predicted, presumably because of variable X inactivation. In some families, the observed DNA genotype does not correlate with the phenotype; in others we demonstrate the occurrence of individuals with a mosaic DNA genotype. The implications of these data for diagnosis of the disease are discussed.

DNA Mutational Analysis↗