ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1996.tb04314.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY

摘要:

We report two patients, born of consanguineous parents, affected by a disorder resulting in mild growth retardation. Hallmarks are amelogenesis imperfecta (absence of the enamel cap) associated with brachyolmia‐like anomalies: platyspondyly with short pedicles, narrow intervertebral and interpedicular distances, rectangular‐shaped vertebrae with posterior scalloping and herniation of the nuclei, and broad femoral necks. Inheritance appears to be autosomal recess

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1996.tb04315.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY

摘要:

We report two brothers with congenital total alopecia, mental retardation, childhood convulsions and hypergonadotropic hypogonadism. This association has not previously been reported and probably represents a new autosomal recessive condition.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1996.tb04316.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY

摘要:

Transthyretin gene point mutations cause hereditary amyloidosis with an autosomal dominant pattern of inheritance. The disease usually manifests itself in heterozygous patients, although a few homozygotes have been reported. We describe two unrelated patients carrying the Leu64 mutation, one of whom presents a homozygous genotype (Family B). Homozygosity was confirmed by sequence analysis, RG‐PCR and double one‐dimensional electrophoresis of the plasma protein. Although the clinical picture of the homozygous patient of Family B was more severe than that shown by the heterozygous members of Family A, the variability often displayed by FAP patients does not allow any firm conclusion about the role of homozygosity in the seriousness of the dise

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1996.tb04317.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY

摘要:

The current literature indicates that several abnormalities have been observed in the three hematopoietic cell lines of infants with Down's syndrome. This prospective, longitudinal study was designed to clarify the physiological variation in peripheral blood cell values of children with Down's syndrome by following 25 such infants during their first year of life. Apart from polycythemia in the first week of life, the hemoglobin concentration was, in general, the same as in normal term infants. At 9–12 months of age values for mean corpuscular hemoglobin and mean corpuscular volume tended to be elevated. Serum erythropoietin concentrations were low to normal. White blood cell counts were slightly lower in children with Down's syndrome than in normal children. The study infants had profound thrombocytosis from the age of 6 weeks to the end of follow‐up at 1 year. This study, the first longitudinal follow‐up of such subjects, indicates that infants with Down's syndrome often have evidence of polycythemia soon after birth and red blood cell macrocytosis and thrombocytosis later in infancy. In conclusion, we carried out peripheral blood cell counts in 25 infants with Down's syndrome, but with no actual hematological disturbance, during their first year of life, and compared them with values for normal term in

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1996.tb04318.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY

摘要:

We report on the clinical and cytogenetic assessment of five cases of Down syndrome phenotype with either a partial duplication of chromosome 21 or a normal karyotype, and we quote a case of del (21q) syndrome. Down syndromes with a partial duplication of chromosome 21 (as well as cases of del (21q), which are partly the phenotypic countertype of trisomy 21) are of paramount importance in the understanding of genes involved in the phenotype of Down syndrome. The goal is to find the relevant genes implicated in the main traits of Down syndrome (i.e. mental retardation, Alzheimer disease, and serious visceral malformations). Such a goal, in our opinion, cannot be reached just by publishing the genotype and the phenotype of a small cohort of patients: 1. a sufficient number of accurate cases is needed, and 2. data have to be computerized for definite conclusions to be reached. The main aims of this report are to present our study protocol and to invite colleagues to participate in a collaborative study in order to collect a maximum of these (rare) cases.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1996.tb04319.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY

摘要:

One hundred and fifty‐two patients with the Williams‐Beuren syndrome were examined to assess the frequency and severity of ophthalmological features associated with the disorder. Eighty‐two (54%) had strabismus, all but three, esotropia. One hundred and seventeen (77%) patients had blue irides, 10 (7%) green, and 25 (16%) brown. One hundred and twelve (74%) showed a typical so‐called stellate iris pattern of the anterior stroma. Whitish anomalies were also detectable in brown irides. Two 9‐year‐old patients and one 46‐year‐old patient had initial cataract. Of all the patients with funduscopy, 22% had retinal vascular tortuosity. One patient had suspected Rieger syndrome. Two patients had ptosis, one with a Marcus‐Gunn phenomenon. No ocular manifestation of hyperca

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1996.tb04320.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY

摘要:

We report a modified method for the rapid detection of aneuploidies directly on human uncultured amniocytes that simplifies and shortens the entire experimental procedure, yielding signals which allow correct diagnosis of trisomy 21 in 97% of cases. The improvement is based on two points: 1) use of cosmid pockets specific for the Down's syndrome minimal region as FISH probes, and 2) a modified protocol for the fixation and preparation of amniocytes.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1996.tb04321.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY

摘要:

In this report, we describe a male infant with a 45, X karyotype; the entire short arm and the centromere of the Y chromosome were translocated onto the short arm of chromosome 18, resulting in an unbalanced dicentric chromosome. Breakpoints were identified byin situfluorescence hybridization (FISH) on the proximal Yq11 and 18p11.2. Both Y and 18 centromeric alphoid sequences were identified on the derived 18 chromosome. Clinical features were compatible with 18p‐ syndrome and no Turner stigmata were present in our propositus. Short stature was likely to be related to the deletion of 18p and/or Yq, where a gene involved in stature determination has been located proximal to a gene involved in spermatogenesis (AZF

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1996.tb04322.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY

摘要:

We report on a boy with two supernumerary marker chromosomes which were identified by fluorescencein situhybridization and derived from chromosome 6 and 9. In lymphocytes, a mosaic karyotype was found: 46,XY (17%)/47,XY,r(6) (24%)/47,XY,r(9) (20%)/48,XY,r(6),r(9) (39%). Only minor dysmorphic features and mild developmental delay were present. Despite extensive fluorescencein situhybridization studies using a large panel of probes, we were unable to characterize the marker chromosomes in more detail, mainly because no probes for the chromosome regions involved were available to us. In order to reach a better understanding of the clinical relevance of small supernumerary marker chromosomes, it will be necessary to create a widely available set of probes, covering all chromosome regions.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1996.tb04323.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY