摘要:

Karyotypes from 50 persons with retinoblastoma confirmed by histopathological examination were studied by conventional staining and Giemsa‐banding techniques. Two chromosomal anomalies were found. An interstitial deletion of the long arm of No. 13 chromosome was identified by Giemsa‐banding in the karyotypes from a boy with unilateral retinoblastoma. Another boy with unilateral tumor had a karyotype of 47, XXY. These findings provide additional evidence that a deletion of chromosome No. 13, most likely involving band 13q14, is associated with the development of retinoblastoma. In conjunction with other reports, our findings also suggest that retinoblastoma may be found more frequently in children with chromosomal aneuplo

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb00894.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY

摘要:

A patient identified as being a partial trisomy 22 mosaic is presented. The presence of a translocation t(4;22) (pter;q12) is noted in the mother, sister and maternal aunt. Comparison is made with nine other reported cases of partial trisomy 22 confirmed by parental translocation. These suggest a definite syndrome, including mental retardation, congenital heart disease, skeletal anomalies, anti‐mongoloid slant of the palpebral fissures, preauricular skin tags and low‐set e

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb00895.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY

摘要:

A large kindred of which multiple members have the Tricho‐dento‐osseous syndrome is presented. This is an autosomal dominant disorder characterized by defective enamel, taurodontia, unusually curly hair and occasionally mild to moderate skeletal osteosclerosis. Histologic investigation of teeth (by both LM and SEM) demonstrated that there is a uniformly thin enamel covering with randomly distributed depressions and pits. The mineral content of this enamel is closer to that of the underlying dentin, which accounts for its lack of radiographic contrast. The dentin was normal. A bizarre finding is that of a periradicular sheath or membrane that enclosed the open apices and extended partway up the root. It was composed of collagen fiber bundles. The anatomical position of this membrane suggested that it may represent the developing periodontal ligament seen in early tooth formation. Recent embryologic evidence provides support for mesenchymal culpability for all reported features of the syndr

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb00896.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY

摘要:

Up to the present, 38 cases of trisomy 8 have been found. As most of the patients showed mosaicism, the clinical picture is variable and it seems possible that some mosaics will not be detected by the usual cytogenetic examination of blood cultures. We therefore examined the dermatoglyphics of our own case and compared the results with the findings in the other cases reported in the literature, in order to establish a typical dermatoglyphic pattern in trisomy 8 which might be useful in diagnosis. All patients exhibited several unusual dermatoglyphics, including: a low TFRC (x̄= 96.06), high palmar (92.9%) and plantar (100%) pattern intensity, a distally placed axial triradius (62.5%), loop with accessory triradius in an interdigital area (91.7%), thenar (68.2%) and hypothenar (50.0%) patterns, simian crease (47.1%), bilateral arches on the great toes (88.9%) and hallucal‐whorl (72.2%). A distinctive feature was the presence of zygodactylous triradii z, z and z (100%) on the soles of the feet, and deep skin furrows on the palms and soles (68.2%). This combination of dermatoglyphic features appears to be characteristic for the trisomy 8 syndro

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb00897.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY

摘要:

A structural chromosome variant 17ph+ was found in a high genetic risk family. The authors consider the possibility of a causal connection between minor structural changes in the karyotype and congenital defects appearing in one member of the family.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb00898.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY

摘要:

The mean maternal age and the percentage age distribution of 2,650 mothers of children with Down syndrome were calculated for 1950–1973, from hospital records. Mean maternal age has dropped both for controls (28.55→27.37) and Down syndrome (31.26→29.59). The observed maternal age distributions were very similar to those expected in corresponding periods, from the age specific incidences of Collmann&Stoller (1962).It is conceivable that the fall in maternal age in Down syndrome in recent years has resulted from the general trend to decreasing maternal age. There has been no change in the age‐specific incidences of Down syndrome. The incidence of Down syndrome seems to be falling i

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb00899.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY

摘要:

A simple and effective index for the diagnosis of Down syndrome is presented. It makes use of 12 characters with from two to nine states. The simple format allows persons with limited knowledge of the characters to use it. Simplicity was attained by combining character states when this did not result in a loss of discrimination and by avoiding characters that were redundant, subjective or difficult to evaluate. A combination of characters that occur frequently in Down syndrome (wide applicability) and characters that have a high relative frequency (high probability) was used. Additional data from comparable samples were used to calculate more representative scores for some characters.Over 82% of suspected cases may be diagnosed as having or not having Down syndrome with 99.9% confidence. Conditional probabilities for the various scores are provided. Individuals whose scores are in the Down or non‐Down zones have a 98.7% probability or greater of having or not having the syndrome, respectively.The index is more effective than others as measured both by the percentage of individuals with and without Down syndrome whose scores fall into distinct zones (overlap method) and by the percentage with Down syndrome who have positive scores and controls who have negative scores (single point classification

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb00900.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY

摘要:

The human pedigree provides a highly organized representation of historical family morbidity. In order to allow for careful analysis of large numbers of pedigrees, we have developed an interactive computer system for their storage, retrieval and statistical review. The system is capable of integration with our computerized medical record through the use of a common classification (ICHPPC) for patient morbidity. This linkage of pedigrees to clinical data may allow a richer utilization of the clinical experience within Family Practice for the support of research into disease patterns within the family.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb00901.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb00902.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY