摘要:

A 3.5‐month‐old female infant manifesting dysmorphic facies, developmental delay and failure to thrive was referred for cytogenetic evaluation. Peripheral lymphocytes revealed three chromosomally distinct cell lines: 46,XX/46,XX,10p+/47,XX,10p +, + mar. Dermal fibroblasts revealed only the 46,XX,10p+cell line. High resolution G‐, R‐, and Q‐banding suggested that the extra chromosomal material (10p+) represented a duplication of the segment 13q14→13qter. Parental karyotypes were normal. As absolute identification ofde novochromosomal abnormalities, based solely on cytogenetic studies, is sometimes difficult, both biochemical and molecular approaches were undertaken to elucidate this abnormality in more detail. Dosage effects were examined using esterase D (localized to 13q14.1) and the DNA probes p1E8 and p9A7 (localized to 13q22 and 13q31/32, respectively). These studies suggested the presence of only 2 copies of esterase D, but 3 copies of both DNA probes, allowing identification of the breakpoint

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1991.tb03112.x

出版商:Blackwell Publishing Ltd    

年代:1991

数据来源: WILEY

摘要:

The fragile X [fra(X)] syndrome is the most common inherited form of X‐linked mental retardation and is associated with a rare folate sensitive fragile site on the X chromosome at band Xq27.3. Recently, a common fragile site located at chromosome band Xq27.2 was delineated (Sutherland&Baker 1990). In order to confirm the previous findings and to further investigate the conditions required for induction of both types of fragile sites, we studied the use of four experimental protocols. Samples from a control male, two fra(X) males and a fra(X) carrier female were studied. Both common and rare fragile sites were seen in the samples from the fra(X) subjects. Up to 4% of cells showed both common and rare fragile sites on the same X chromosome at the 500 band level. The rare and common fragile sites on the X chromosome could be clearly distinguished. From 1 to 3% of the control cells exhibited the common fragile site, while none exhibited the rare fragile site. These protocols should be useful in resolving questionable fra(X) syndrome diagnose

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1991.tb03113.x

出版商:Blackwell Publishing Ltd    

年代:1991

数据来源: WILEY

摘要:

In this report we present the results of a study of the intellectual functioning and cognitive profile of 26 Prader‐Willi syndrome (PWS) patients. The mean IQ score was 62.3 (range 39–96). In 13 patients a significant difference between verbal and performance IQ was found. In 10 of them the performance IQ was higher than the verbal. The results of subtest analysis indicate that cognitive strengths are more visible than cognitive weaknesses. Highest scores were noted especially in the performance scale, i.e. Block Design (9 children) and Coding or Mazes (5 children). Analysis of all available data indicates that PWS patients score better on visual motor discrimination skills than on auditory verbal processing skills. These results are promising for intervention programs and education stiateg

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1991.tb03114.x

出版商:Blackwell Publishing Ltd    

年代:1991

数据来源: WILEY

摘要:

Linkage analysis was performed in three Swedish families segregating for X‐linked retinitis pigmentosa (XLRP), using five polymorphic DNA markers assigned to Xp. Individual recombination events were analyzed and two‐ and five‐point linkage analysis was undertaken. In one family, a XLRP locus was mapped to the same position as OTC corresponding to RP3. In two families, a disease locus linked to OTC was excluded. In one family, recombination events indicate a locus for XLRP outside the interval (DXS84‐OTC‐DXS255‐DXS14), most likely on the centromeric si

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1991.tb03115.x

出版商:Blackwell Publishing Ltd    

年代:1991

数据来源: WILEY

摘要:

Four commercially‐available semi‐automatic cytogenetic systems (Cytoscan, Ibas, Magiscan and Miamed) have been evaluated for both metaphase‐finding and karyotyping performances, using a common set of test slides and uniform criteria. Comparisons have been made in respect of timings, number and nature of operator interactions, and false positive and negative rates. Amongst the general conclusions are the importance, for metaphase‐finding performance, of a facility for ranking candidate metaphases according to their ‘analysability’, the need for some systems to reduce the time taken to relocate candidate metaphases, and the ability of all systems tested to detect analysable metaphases that were initially overlooked by a skilled cytogeneticist. In spite of automation, karyotyping remains a highly interactive process, strongly dependent on the skill and judgment of the operator, and therefore difficult to evaluate fully

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1991.tb03116.x

出版商:Blackwell Publishing Ltd    

年代:1991

数据来源: WILEY

摘要:

Extended genealogical studies stretching back to the 17th century were performed concerning the heredity patterns of vitreous involvement in Swedish patients with familial amyloidotic polyneuropathy (FAP). FAP is an autosomal dominant inherited disorder, characterized by extracellular deposition of amyloid and a clinical syndrome of peripheral and autonomic neuropathy. In addition, some patients show typical vitreous opacities. All patients had their origin in a restricted geographical area. Some main patterns arose from this study: 1) Patients who had vitreous opacities as the first symptom of FAP seem to form a separate group, with a distinct age of onset distribution; 2) The familial occurrence of vitreous opacities raises the possibility that other familial factors modify the expression of the FAP gene; 3) The mean age of onset for vitreous opacities is lower for homozygous than for heterozygous patients.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1991.tb03117.x

出版商:Blackwell Publishing Ltd    

年代:1991

数据来源: WILEY

摘要:

In this report we describe fertility in an adult female with Cohen syndrome. She gave birth to a son, now 1.5 years old, with discrete facial stigmata and slight psychomotor retardation.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1991.tb03118.x

出版商:Blackwell Publishing Ltd    

年代:1991

数据来源: WILEY

摘要:

The reliability of the centromere marker was tested in 22 parents and their daughters with Turner's syndrome. The segregation of the centromere marker was compared to the results found by RFLP analysis, and there was complete agreement in all 19 informative cases.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1991.tb03119.x

出版商:Blackwell Publishing Ltd    

年代:1991

数据来源: WILEY

摘要:

We present a consanguineous sibship with benign familial neonatal seizures. The mode of transmission of the disorder in this family seems to be autosomal recessive, which is contrary to the usual autösomal dominant type. Linkage analysis failed to show tight linkage between the disease locus and the autosomal dominant locus assigned to chromosome 20q. We thus conclude that benign familial neonatal seizures is a genetically heterogeneous type of epilepsy

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1991.tb03120.x

出版商:Blackwell Publishing Ltd    

年代:1991

数据来源: WILEY

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1991.tb03121.x

出版商:Blackwell Publishing Ltd    

年代:1991

数据来源: WILEY