摘要:

An unusual variant of chromosome 6 was shown to be a dic(6) by use of the chromosome specific alphoid probe, p308. The use of biotinylated repeat probes provides a rapid procedure for the resolution of some cytogenetic abnormalities.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1990.tb03483.x

出版商:Blackwell Publishing Ltd    

年代:1990

数据来源: WILEY

摘要:

Clinical and autopsy Findings in two fetuses and one newborn infant with Fraser syndrome are presented. Discussion focuses on the range of phenotypic expression within this autosomal‐recessive disorder, the resulting difficulties in prenatal and postnatal diagnosis, and on the concept of a neurocristopathy as underlying disturbanc

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1990.tb03484.x

出版商:Blackwell Publishing Ltd    

年代:1990

数据来源: WILEY

摘要:

A microcomputer database management system retrieved all 170 probands with phakomatoses evaluated through the genetic clinics at the University of South Florida between January 2, 1982 and December 31, 1987. Neurofibromatosis (NF) was the diagnosis of 118 of them; 42 had other phakomatoses and 10 had transitional phenotypes difficult to classify. The analysis of the hamartomas of all probands indicated disorganized differentiation and overgrowth of cell species characteristic for the involved tissue and location. Abundance of extracellular fibrillary components was also evident in most hamartomas. Adequate blood suppy was aconditio sine qua non. This was seen in monogenic, sporadic, transitional and combined phakomatoses alike and implied a common pathogenesis. The paracrine growth factors and their regulation emerged as the most plausible common denominator for the pathogenesis. A unitary pathogenetic hypothesis is proposed that the phakomatoses represent paracrine growth regulation disorders (paracrinopathies). Conditions such as fibromatoses, lipomatoses, lipody‐strophies, hemihyper/hypotrophies, including Russell‐Silver and Beckwith‐Wiedemann syndromes may be proven to be paracrinopathies as

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1990.tb03485.x

出版商:Blackwell Publishing Ltd    

年代:1990

数据来源: WILEY

摘要:

Thea‐methyl fatty acid, pristanic acid (2, 6, 10, 14 tetramethylpentadecanoic acid) is oxidised rapidly by normal skin fibroblasts in culture to CO2and to water‐soluble metabolites. The latter are secreted into the culture medium. Fibroblasts from patients with propionyl CoA carboxylase, and to a lesser extent from patients with methylmalonyl CoA mutase defects, show reductions in the amount of CO2released, although the production of water‐soluble metabolites is not affected. Our data indicate that propionic acid is produced from pristanic acid, and ultimately from its immediate precursor phytanic acid. As phytanic and pristanic acids are significant components of diets rich in ruminant fats, it is likely that they may contribute to the accumulation of propionate and its metabolites in disorders of propionate metab

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1990.tb03486.x

出版商:Blackwell Publishing Ltd    

年代:1990

数据来源: WILEY

摘要:

In this report we describe a distinct and apparently new mental retardation syndrome in four siblings: three brothers and one sister. They present slight to moderate mental retardation associated with a peculiar craniofacial dysmorphism (4/4), hypergonadotrophic hypogonadism (4/4), eunuchoid habitus (4/4), diabetes mellitus (4/4) and epilepsy (3/4).

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1990.tb03487.x

出版商:Blackwell Publishing Ltd    

年代:1990

数据来源: WILEY

摘要:

Use of an intragenic BamHI restriction fragment length polymorphism within the 5′ end of the retinoblastoma gene (RBI) provided improved genetic counselling for five familial and ten non‐familial retinoblastoma patients and their relatives. All other polymorphic probes within RBI were uninformative in three families, and accuracy of diagnosis was improved by use of this polymorphism in two families. In 10/14 informative constitutional DNA‐RB tumor DNA pairs, a reduction to homozygosity allowed identification of the RBI allele at risk to carry a germline RBI mut

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1990.tb03488.x

出版商:Blackwell Publishing Ltd    

年代:1990

数据来源: WILEY

摘要:

A further patient with a deletion of lp is described, bringing the number of reported cases to 13. The cytogenetic derivation of the deletions and the clinical phenotype are reviewed. The range of breakpoints and small number of cases result in no clearly defined phenotype. Facial dysmorphism, clinodactyly of the fifth finger, mental retardation and heart defects are, however, most frequently described, with a high‐arched palate, in particular, seen in deletions distal to P3

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1990.tb03489.x

出版商:Blackwell Publishing Ltd    

年代:1990

数据来源: WILEY

摘要:

The Lp(a) antigen resides in a polypeptide chain that is attached to apolipoprotein B (apoB) by a disulfide bridge. Recently, cDNA for this polypeptide chain (frequently referred to as the Lp(a) polypeptide chain, Lp(a) apolipoprotein or apolipoprotein (a)) was cloned and extensive homology to plasminogen was uncovered. This homology creates significant difficulties in studying DNA variation in the gene (the LPA gene) for this polypeptide and the plasminogen gene. We have studied a variant 2 kilobase (kb) DNA fragment detectable after digestion with the restriction enzyme MspI, which appears to originate from the LPA gene since it is detected by LPA probes but not with plasminogen probes. It is related to the “kringle IV” region of the LPA gene since it is detected with an LPA probe that only contains “kringle IV” repeats. A proportion of people appears to lack (or have an undetectable level of) the 2 kb fragment and there are significant quantitative differences between samples from people who have the fragment. Presence and amount of this fragment appear to segregate in families as a Mendelian trait. This quantitative DNA variation is likely to reflect differences between individuals in number of “kringle IV” repeats at th

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1990.tb03490.x

出版商:Blackwell Publishing Ltd    

年代:1990

数据来源: WILEY

摘要:

Pelizaeus‐Merzbacher disease (PMD) is a rare X‐linked recessive disorder with severe psycho‐motor retardation and neurological symptoms due to an inborn abnormality of proteolipid protein (PLP), the major protein component of myelin. A tight linkage between the gene of PLP and PMD locus has been suggested. We have carried out a series of RFLP studies using a cDNA probe for PLP and an anonymous DNA‐fragment DXYS12 in a large Finnish family with at least three affected individuals. DNA analysis on chorionic villus specimens allowed us to exclude the disease in a male fetus of a possible carrier mother and, likewise, to demonstrate carrier status in a female fetus in another at‐risk

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1990.tb03491.x

出版商:Blackwell Publishing Ltd    

年代:1990

数据来源: WILEY

摘要:

We describe a female newborn girl with partial trisomy 17p, which was not detected at the initial cytogenetic investigation, but which later proved to be an unbalanced product of a paternal translocation t(8; 17)(p23;pl 1.2). Comparison with the three previously reported patients suggests a clinically distinct “trisomy 17p syndrome”, i.e. pre‐ and postnatal growth retardation, microcephaly, antimongoloid slanting of palpebral fissures, hypertelorism, long philtrum with thin upper lip, micrognathia and high‐arched palate. Two of the four patients had a heart defect, and psychomotor developmental delay was evident in all four cases. In the present patient, the chromosomal anomaly was only detected after the finding of the autosomal reciprocal translocation in the father. The importance of cytogenetic investigations in parents of a MCA/MR child with apparently normal chromosomes is emp

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1990.tb03492.x

出版商:Blackwell Publishing Ltd    

年代:1990

数据来源: WILEY