ISSN:0148-7299    

DOI:10.1002/ajmg.1320010102

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1977

数据来源: WILEY

摘要:

AbstractWe have studied 4 patients with inverted tandem duplications of parts of chromosomes, a hitherto rarely identified from of a structural rearrangement involving a single chromosome in man. In Patients 1 and 2, the duplication involved parts of the short arm of chromosome 8 (regions 8p 12→8p23 and 8p21→8p23, respectively). Both patients manifested certain characteristics of the mosaic trisomy 8 syndrome. Elevated levels of glutathione reductase (GSR) in their erythrocytes supported the interpretation of a partial duplication of chromosome 8 and indicated a regional localization for the GSR gene locus. In Patient 3, the distal half of the long arm of chromosome 4 was duplicated (region4q26→4q35). Clinical evidence supported this interpretation, as Patient 3 resembled phenotypically the 13 reported cases with duplication of the distal 4q. The cytogenetic findings in Patient 4 suggested a possibly inverted duplication of 22q. The clinical correlation was less convincing due to the lack of a well‐defined phenotype for trisomy 22.These chromosome aberrations had occurred de novo in all 4 cases. Although they involved different chromosomal regions, they might well have arisen by the same mechanism. Possible modes of origin that are discussed in detail include unequal exchange between homologous chromosomes, between chromatids of 1 chromosome or between strands of 1 DNA

ISSN:0148-7299    

DOI:10.1002/ajmg.1320010103

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1977

数据来源: WILEY

摘要:

AbstractMucolipidosis I is characterized by Hurler‐like features and skeletal dysplasia with a cherry‐red macular spot and signs of neurodegeneration involving neuronal cells and myelin. Excessive amounts of sialic acid‐containing compounds were found in cultured fibroblasts, leukocytes, and urine of a patient with a clinical phenotype of mucolipidosis I. In cultured fibroblasts, profoundly diminished activity of an α‐N‐acetylneuraminidase (sialidase) was found. Mucolipidosis I thus appears to be a distinct disorder of complex carbohydrate catabolism caused by the genetic deficiency of a neu

ISSN:0148-7299    

DOI:10.1002/ajmg.1320010104

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1977

数据来源: WILEY

摘要:

AbstractAn 8‐month‐old female presented with coarse facies and hepatosplenomegaly at birth. Growth proceeded at an accelerated rate and mental development was normal. A pattern of dysostosis multiplex developed radiographically. Cytoplasmic inclusions consistent with lysosomal storage disease were demonstrated by electron microscopy in bone marrow, liver, and cartilage cells and in cultured skin fibroblasts. Assays of the fibroblasts revealed a specific deficiency of acid neuraminidase and 6‐fold increase in intracellular bound sialic acid. An unidentified macromolecular compound rich in sialic acid was excreted in excessive amounts in the urine. The phenotype suggests defective degradation primarily of glycoproteins and possibly to a lesser extent of keratan sulfate and ganglio

ISSN:0148-7299    

DOI:10.1002/ajmg.1320010105

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1977

数据来源: WILEY

摘要:

AbstractWe report 5 new cases of the FG syndrome, 1 sporadic, 3 brothers from a European family, and another affected male born in the first FG syndrome family reported by Opitz and Kaveggia in 1974. The pedigree data confirm the hypothesis of X‐linked inheritance of this multiple congenital anomaly/mental retardation (MCA/MR) syndrome. Its manifestations include shortness of stature with a disproportionately large head, mental retardation, hypotonia with or without congenital joint contractures, seizures and a strikingly characteristic personality and facial appearance, imperforate anus and/or other gastrointestinal defects, congenital heart defects, and many minor manifestations. Chronic pulmonary disease in some affected males may be a complication of hypotoni

ISSN:0148-7299    

DOI:10.1002/ajmg.1320010106

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1977

数据来源: WILEY

摘要:

AbstractWe describe a family in which 3 sisters gave birth to 8 infants with the Wiedemann‐ Beckwith syndrome. The clinical manifestations in all the affected individuals included macroglossia, macrosomia and omphalocele, while their mothers all were entirely normal. Pedigree analysis suggests that familial occurrence of the Wiedemann‐Beckwith syndrome may be due to delayed mutat

ISSN:0148-7299    

DOI:10.1002/ajmg.1320010107

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1977

数据来源: WILEY

摘要:

AbstractPatients with Poland syndrome were ascertained through the British Columbia Health Surveillance Registry, through hospital records, and through practicing plastic and orthopedic surgeons. Of 44 patients who were ascertained, 28 had family histories taken and were examined. Physical findings were: absence of the sternal head of the pectoralis major in all patients, symbrachydactyly in most patients, and infrequent other associations such as imsilateral undescended testis, Möbius syndrome, clubfoot and submucous cleft palate. Family histories were “negative” in all cases. The 8 affected adults had 24 reportedly normal children. Mean paternal age was significantly higher than the paternal age in the population. The incidence was 1 /32,000 livebirths in British Columbia. It was concluded that in the British Columbia population the syndrome is usually a sporadic e

ISSN:0148-7299    

DOI:10.1002/ajmg.1320010108

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1977

数据来源: WILEY

摘要:

AbstractAn etiological survey is presented of all severely retarded children living in Hertfordshire, at home and in residential care, born between January 1, 1965, and December 31, 1967. One hundred and forty‐six children (87 boys and 59 girls) were ascertained, out of a total population of 46,960, with a prevalence of 1 in 320 or 3.1 per 1,000. Approximately 1/3 (47) had the Down syndrome, 1 per 1,000 population.It was possible to establish a diagnosis in a further 45 cases, which included 1 additional case of autosomal chromosome abnormality and 7 each of autosomal dominant, recessive and X‐linked conditions; 17 were associated with presumed multifactorial etiological factors; in 6 the condition was thought to have been caused by an environmental agent. It was not possible to establish a cause in the remaining 54 cases.Recurrence risks of severe mental retardation in cases where it is impossible to establish a definite diagnosis are discussed and the potential value, for genetic counseling purposes, of categorizing such patients into broad symptomatological groups, is sugges

ISSN:0148-7299    

DOI:10.1002/ajmg.1320010109

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1977

数据来源: WILEY

摘要:

AbstractAcromesomelic dwarfism is a distinct condition characterized by short stature of the short limb type, with the hands and feet showing the most obvious deviations from normal. The forearm bones are usually disproportionately shorter than the other long tubular bones of the limbs. The intelligence is normal. Available data suggest autosomal recessive transmission. Characteristic clinical and radiographic features permit establishment of a confident diagnosis in the first year of life.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320010110

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1977

数据来源: WILEY

摘要:

AbstractWe have identified 5 patients with a condition which we call hypophosphatemic bone disease (HBD). The clinical findings, appearing during late infancy include modest shortening of stature, bowing of the lower limbs, and nonrachitic bone changes. The concentrations of calcium, parathyroid hormone (PTH), and vitamin D in serum and the basal excretion of cyclic AMP in urine are all normal. The serum phosphorus level is constantly depressed; inpaired reclamation of phosphate anion by kidneys explains this finding.Net tubular reabsorption of phosphate anion is “normal” at the low endogenous levels of filtered phosphate anion, yet below normal at elevated levels. The phosphaturic response to PTH infusion is abnormal in qualitative aspects. The characteristics of phosphate transport by kidney in HBD differ considerably from those described in X‐linked hypophosphatemia (XLH). The transport defect is not expressed in the (non‐epithelial) membrane of the erythrocyte.Since the severity of bone disease is quite different in HBD and XLH, and yet serum (extracellular) phosphorus concentration is similarly low in both diseases, we propose that some process regulates the distribution of phosphorus between serum and bone, and that this process is affected in different ways in HBD and XLH.In 2 pedigrees HBD is autosomal dominant with variable expression; the mode of inheritance is indeterminate in the other 3 families. The dominantly inherited hypophosphatemia is responsive to 1α OH analogues of vitamin D3.There is presumptive evidence from the pedigree studies, and in the response to vitamin D analogues, that HBD is not a singl

ISSN:0148-7299    

DOI:10.1002/ajmg.1320010111

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1977

数据来源: WILEY