摘要:

The MASA syndrome is an X‐linked disorder with mental retardation, spastic paraparesis, and adducted thumbs as the most characteristic features. We performed linkage analysis, using Xq28 markers, on a large MASA syndrome family. The maximum lodscore was 6.37 at 0 recombination for DXS52 and 5.99 at 0 recombination for DXS305. Crossovers were demonstrated between the disorder and DXS455. Clinical and linkage data from this family further support the hypothesis that the MASA syndrome and X‐linked hydrocephalus are allelic disord

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1994.tb04016.x

出版商:Blackwell Publishing Ltd    

年代:1994

数据来源: WILEY

摘要:

Angiotensin I‐converting enzyme (ACE) cleaves angiotensin I to angiotensin II, which is the active component in the renin‐angiotensin system (RAS). We have studied an insertion/deletion polymorphism in DNA at the ACE locus. In three different series comprising 140, 90 and 136 unrelated individuals we found no evidence of association between genotypes in this insertion/deletion (I/D) polymorphism and level of systolic or diastolic blood pressure. In two series of 130 and 88 monozygotic (MZ) twin pairs, respectively, there was no difference between genotypes in within‐pair variation in systolic or diastolic blood pressure. Thus, in these series of healthy people, neither “level gene” nor “variability gene” effects of this insertion/deletion polymorphism

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1994.tb04017.x

出版商:Blackwell Publishing Ltd    

年代:1994

数据来源: WILEY

摘要:

Henk Meyer1A 3‐year‐old boy was referred to the pediatric department because of unexplained extreme obesity. Height and occipitofrontal circumference were just above the 90th centile. Endocrine studies failed to show any significant abnormality. Motor and speech development were generally delayed. On clinical‐cytogenetic‐molecular grounds, Prader‐Willi syndrome was excluded. Fragile X syndrome was diagnosed by the presence of the classical FMR‐1 mutation and confirmed by cytogenetic studies, revealing 20% fragile X positive cells. We compare the clinical features in the present patient with the nine reported patients with fra(X) syndrome and extreme obesity. In pathogenesis, hypothalamic dysregulation is hypothesized. In differential diagnosis of Prader‐Willi syndrome, fragile X has to be considered, especially when laboratory workup for Prader‐Willi syndrome is negative. Clinical behavior

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1994.tb04018.x

出版商:Blackwell Publishing Ltd    

年代:1994

数据来源: WILEY

摘要:

We have evaluated, both clinically and by linkage analysis, a large family with 22 known affected males with the MASA syndrome (McKusick 303300). Clinical findings varied widely amongst the affected family members, with some appearing initially to have the MASA syndrome and others to have X‐linked hydrocephalus (HSAS) (McKusick 307000). Important findings included the presence of adducted thumbs in two obligate carriers, learning problems or mild mental retardation in three females, two of whom were obligate carriers, and hydrocephalus with neonatal death in three females born to obligate carriers. X‐inactivation analysis in lymphocytes from the two women with adducted thumbs revealed preferential inactivation of one X chromosome, suggesting that nonrandom X‐inactivation may be responsible for clinical expression in females. The presence of HSAS in some individuals of this family and the MASA syndrome in others further supports the hypothesis that these two conditions are the result of a mutation in the same

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1994.tb04019.x

出版商:Blackwell Publishing Ltd    

年代:1994

数据来源: WILEY

摘要:

A mentally retarded male with Martin‐Bell syndrome, who has an extra microchromosome and is fra X negative in cytogenetic study is reported. Because of its small size, the origin of the microchromosome could not be determined. Two other affected males in this family (a cousin and a nephew of the proband) were fragile X positive, 24% and 26%, respectively. Cytogenetic studies and DNA analysis with the probe St B 12.3 were performed on several members of the family. The proband and the two other affected males showed a similar full mutation on the molecular study. This study emphasizes the importance of molecular analysis in the diagnosis of fragile X syndrome, particularly when cytogenetic studies demonstrate fra X negative in individuals in families likely to have X‐linked mental retardat

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1994.tb04020.x

出版商:Blackwell Publishing Ltd    

年代:1994

数据来源: WILEY

摘要:

Two male offspring of a healthy father in Galaz, a remote village in Northwest Iran, were noted to show severe asymmetric genu valgum, with 57 and 82 degrees angulation and dysplasia of the lateral femoral condyle, together with adaptive biomechanical changes of the ankle alignment. Three of the five male offspring of a second marriage who have reached puberty also show variable degrees of genu valgum, increasing with growth. The intermalleolar distance in the affected sons aged 16, 15, and 12 measured 21, 16, and 14 cm, respectively, before epiphysodesis. None of the six female offspring from either marriage, and neither of the two sons under the age of 11 from the second marriage show any skeletal deformity. All members of the family are otherwise mentally and physically normal. It is possible that this genu valgum may be due to a new autosomal dominant mutation which probably occurred in the gonads of the unaffected father. The condition shows an onset age of 11 and appears to have a sex‐limited expressio

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1994.tb04021.x

出版商:Blackwell Publishing Ltd    

年代:1994

数据来源: WILEY

摘要:

A distal (type 1) renal tubular acidosis (RTA‐1) has been studied in 60 of 69 living members of a large family “HK” and two unrelated small families. The “HK” family, including 28 RTA‐1 subjects, presents the first large family with only primary RTA‐1 reported to date. The genetic situation in this family confirms the autosomal dominant transmission of the hereditary primary RTA‐1 suggested previously on the basis of a few small families. Our data show that, in contrast to the secondary hereditary form, RTA‐1 in its primary hereditary form is always complete and often tolerated (asymptomatic). It occurs in non‐hypercalciuric families with no clinical variants observed in family members without RTA‐1. In our series some clinical abnormalities commonly associated with RTA‐1, such as nephrocalcinosis and growth retardation, appeared only in three cases among offspring when both parents were affected. The appearance of such abnormalities, taken as consequences of chronic acidosis in RTA‐1, could be favored by the genetic background and/or the homozygosity for the RTA‐1 gene. Linkage studies between RTA‐1 and 10 genetic markers have been carried out. Results show that only ABO, MNS, GM and RH loci are informative for linkage analysis and none of these loci can be sugge

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1994.tb04022.x

出版商:Blackwell Publishing Ltd    

年代:1994

数据来源: WILEY

摘要:

Onychotrichodysplasia, chronic neutropenia and mental retardation syndrome (ONMRS) is a rare autosomal recessive mutation, mostly reported in patients of Mexican ancestry. We describe a second patient with onychotrichodysplasia and chronic neutropenia without mental retardation (ONS). It is unclear if ONS found in the two European patients with normal mental development is due to genetic heterogeneity or variable expressivity of the same syndrome.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1994.tb04023.x

出版商:Blackwell Publishing Ltd    

年代:1994

数据来源: WILEY

摘要:

Fluorescentin situhybridization with probes specific for a chromosomal subregion and chromosome‐specific libraries (chromosome painting) are important new methods for assessing chromosome rearrangements. In this paper we present four patients with additional chromosomal material on chromosome 8p who have been studied using G‐banding techniques, chromosome painting and FISH with cosmid probes specific for the region 8p23.1 → 8pter. In all cases we found a partial inversion duplication of 8p along with a deletion of the region 8p23.1

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1994.tb04024.x

出版商:Blackwell Publishing Ltd    

年代:1994

数据来源: WILEY

摘要:

The effects of parental consanguinity on gestational age and birth measurements were evaluated on 2880 newborn infants. Consanguineous marriages were considered in three subgroups: first‐cousin, first‐cousin‐once‐removed and distant‐cousin marriages, versus non‐consanguineous marriages. Anthropometric parameters were weight, length, leg length, head, chest and mid‐arm values obtained within 24 h of birth. No significant differences were found concerning gestational age. Although anthropometric values were slightly less, especially in children from first‐cousin couples, the differences were insignificant for all groups. It was concluded that blood‐relationship alone does not affect such mult

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1994.tb04025.x

出版商:Blackwell Publishing Ltd    

年代:1994

数据来源: WILEY