摘要:

We have evaluated a simple and rapid 2‐step dual‐label assay (DELFIA®) for alphafetoprotein (AFP) and free β subunit of human gonadotropin (hCGβ) in second‐trimester screening for Down syndrome. Based on stored serum samples from 1059 normal control pregnancies and 72 cases of Down syndrome, we have found the mean Multiple of Median (MoM) for AFP and free hCGβ to be 0.70 and 2.31, respectively. This is slightly but not significantly better than the values for the separate assay for AFP (0.76 MoM) and for intact hCG (2.11 MoM). However, the dual assay is much simpler than the separate assays and therefore prospective comparison trials should be ca

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1994.tb03980.x

出版商:Blackwell Publishing Ltd    

年代:1994

数据来源: WILEY

摘要:

Retinoblastoma may be caused by constitutional mutations in the retinoblastoma gene which segregates as an autosomal dominant inherited predisposition for developing retinoblastoma tumours. Since 75% of these cases are new mutations, there is a need for methods to identify carriers of such germ‐line mutations, so that informed genetic counselling is available to patients and close relatives. We have used pulsed‐field gel electrophoresis in screening 20 unrelated cases with bilateral retinoblastoma. One constitutional mutation could be detected, and was found to be caused by a balanced chromosome (4; 13) translocation with the breakpoint within intron 17 of the retinoblastoma g

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1994.tb03981.x

出版商:Blackwell Publishing Ltd    

年代:1994

数据来源: WILEY

摘要:

A patient with myopathy and congenital fiber type disproportion presented at birth with arthrogryposis multiplex congenita, dislocation of the hips and mild scoliosis. Later in life she developed marked muscle weakness. A balanced chromosomal translocation t(10;17) (p11.2;q25), transmitted by the clinically healthy mother, who nevertheless showed discrete signs of myopathy, was demonstrated. DNA analysis excluded maternal uniparental disomy for loci on both chromosomes 10 and 17. We suggest that the translocation breakpoints are candidate regions for a myopathy gene.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1994.tb03982.x

出版商:Blackwell Publishing Ltd    

年代:1994

数据来源: WILEY

摘要:

Fluorescencein situhybridization (FISH) with a chromosome‐region‐specific DNA probe was used prospectively on uncultured amniocyte interphase cells to detect an unbalanced chromosome abnormality that resulted in cri du chat or 5p – syndrome. Confirmation was performed by routine cytogen

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1994.tb03983.x

出版商:Blackwell Publishing Ltd    

年代:1994

数据来源: WILEY

摘要:

A 19‐year‐old woman with the Alagille syndrome developed papillary thyroid carcinoma with lung metastasis. She was diagnosed as having Alagille syndrome at the age of 8. Following total thyroidectomy and lymph nodes dissection, iodine‐131 therapy was conducted for local and distant metastases. This is the first report of a case of thyroid cancer accompanying Alagille syn

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1994.tb03984.x

出版商:Blackwell Publishing Ltd    

年代:1994

数据来源: WILEY

摘要:

Lymphocytes from both Down syndrome (DS) patients and age‐matched control donors have been investigated to identify a possible disturbance in chromosomal G2 repair. Analyses of caffeine treatments during G2 have shown that the frequency of chromosomal aberrations is higher in DS lymphocytes than in normal lymphocytes. Likewise, G2 duration is longer in DS cells than in normal cells. In both control and DS lymphocytes, caffeine treatments increase the frequencies of chromatid breakages and decrease the average of G2 duration. The reversal of the caffeine potentiation effect by adenosine and niacinamide is higher in DS cells than in normal cells. Furthermore, ATP content per cell in DS lymphocytes is one third of that estimated in normal lymphocytes. The increase of ATP level produced by adenosine or niacinamide generally correlates with the reversal of the caffeine effect on chromosome aberrations. Under the experimental conditions tested, a good negative exponential correlation between ATP level and chromosome aberrations has been detected in both normal and DS lymphocytes which were or were not X‐irradiated. Finally, we postulate a decrease in G2 repair capability of DS lymphocytes caused by a low availability of ATP and/or some other factor correlating with

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1994.tb03985.x

出版商:Blackwell Publishing Ltd    

年代:1994

数据来源: WILEY

摘要:

We report an 18‐year‐old boy with occipital horn syndrome and we review the 20 cases previously published with this syndrome. The distinctive features common to all patients were unusual facial appearance, skeletal abnormalities, chronic diarrhea and genitourinary abnormalities. The skeletal abnormalities included occipital horns, short, broad clavicles, deformed radii, ulnae, and humeri, narrowing of the rib cage, undercalci‐fied long bones with thin cortical walls and coxa valga. Occipital horn syndrome is inherited in an X‐linked recessive fashion. Our analysis indicates that occipital horn syndrome is associated with a recognizable characteristic ph

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1994.tb03986.x

出版商:Blackwell Publishing Ltd    

年代:1994

数据来源: WILEY

摘要:

A family is described in which a mother and her two children carry a tandem duplication of the short arm of chromosome 8. Their phenotypes are similar and characterised by distinct facial dysmorphism, small stature and mild mental retardation. This is one of the first cases of direct familial transmission of a partial duplication of an autosomal chromosome segment.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1994.tb03987.x

出版商:Blackwell Publishing Ltd    

年代:1994

数据来源: WILEY

摘要:

A 5‐year‐old boy, who had pre‐ and postnatal growth retardation, delayed motor development, cutis laxa, delayed closure of large fontanels, congenital hip dislocation and characteristic facies, is described. Disorders with cutis laxa are now divided into five types. The patient had clinical manifestations very similar to those of cutis laxa with bone dystrophy (type II autosomal recessive cutis laxa). Eighteen patients have been reported, the ratio of males to females being 5 to 14. This is the fifth case of this disorder occurring in a male, which provides further evidence for autosomal recessive inheri

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1994.tb03988.x

出版商:Blackwell Publishing Ltd    

年代:1994

数据来源: WILEY

摘要:

Deletion of a 15pter→q13 segment of maternal origin was observed in a mentally retarded infant. In addition to the symptoms common to deletions of proximal 15q, the phenotype included myoclonic epilepsy of early infantile onset. The deletion was caused by a 3:1 disjunction in the mother, who was a carrier of t(15;22) (13q;p11) translocatio

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1994.tb03989.x

出版商:Blackwell Publishing Ltd    

年代:1994

数据来源: WILEY