摘要:

AbstractWe report on a newborn male and a female of 3 years 9 months withde novo1q42 or 43‐qter deletions. These cases are compared with ten other reported case

ISSN:0148-7299    

DOI:10.1002/ajmg.1320240102

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

年代:1986

数据来源: WILEY

摘要:

AbstractA survey study was carried out with 211 hemophilic men and 205 carriers of hemophilia at four hemophilia centers in New York; London, Ontario; the West of Scotland; and Athens, Greece. The participants responded to a questionnaire exploring socio‐demographic and medical information, attitudes toward hemophilia, and experience of and attitudes toward genetic counseling. The study shows differences between attitudes of hemophilic men and carriers, differences in perceived problems among patients and carriers in the four centers, and differences in opinions between consumers and professionals. Comprehensive services for hemophilic families available in the New York center facilitate both patient education and satisfactio

ISSN:0148-7299    

DOI:10.1002/ajmg.1320240103

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

年代:1986

数据来源: WILEY

摘要:

AbstractThis is the first report of necropsy findings associated with diploid‐triploid mosaicism. The important pathological findings are presented and compared to those of pure triploidy and those noted in noninvasive studies of diploid‐triploid mosaics. The clinical findings in this patient are compared with those of other reported ca

ISSN:0148-7299    

DOI:10.1002/ajmg.1320240104

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

年代:1986

数据来源: WILEY

摘要:

AbstractA further case of a syndrome of pre‐ and postnatal growth retardation, characteristic face, and unsual palmar creases is described. This child also had hypoplasia of labia majora and minora, deafness, and head nodding. Apparently sporadic occurrence in this family does not rule out autosomal recessive inheritance of this syndrome first described by Pitt, Rogers, and Danks in 198

ISSN:0148-7299    

DOI:10.1002/ajmg.1320240105

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

年代:1986

数据来源: WILEY

摘要:

AbstractWe describe a brother and a sister with a syndrome of short stature, microcephaly, mental retardation, and multiple epiphyseal dysplasia. The parents were normal. This appears to be the second example of the syndrome first described by Lowry and Wood [1975] in two boys who had epiphyseal dysplasia, short stature, microcephaly, and nystagmus; one of these patients was mildly mentally retarded. The Lowry‐Wood syndrome probably is an autosomal recessive trai

ISSN:0148-7299    

DOI:10.1002/ajmg.1320240106

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

年代:1986

数据来源: WILEY

摘要:

AbstractWe describe 18 individuals from five unrelated families with various manifestations of the Wiedemann‐Beckwith syndrome. Pedigree analysis was performed on the 5 families and on another 19 families in the literature, each of which included more than one affected person. The following findings were obtained: (1) the clinical manifestations among the affected individuals were highly variable—those obvious in infancy tended to become less distinct with increasing age; (2) the syndrome was transmitted directly and vertically through three generations in four families, and through two generations in seven families; (3) male‐to‐male transmission was noted once; (4) the sex ratio in the affected individuals was not significantly different from 1; (5) the segregation ratio of the trait among the sibs of the probands was 0.571 ± 0.066; (6) the affected+carrier/normal ratio was one among the offspring of the affected individuals and obligate carriers; (7) phenotrance (the expected presence of the trait in a generation) of the syndrome in the sibship of probands was complete, whereas that in earlier generations appeared low. The discrepancy is attributable to the lessening of the clinical features with increasing age as well as to a possibly less aggressive search for abnormalities in older generations. These findings indicate that the syndrome is an autosomal dominant trait with variable expressivity.High‐resolution chromosome banding analysis in seven affected individuals and their respective parents showed no abn

ISSN:0148-7299    

DOI:10.1002/ajmg.1320240107

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

年代:1986

数据来源: WILEY

摘要:

AbstractA dominant major locus (allele frequency of .0025 ± .0014), resulting in low levels of high density lipoprotein cholesterol (HDL‐C), was revealed by likelihood analysis on 2,170 persons in 55 Utah pedigrees. This allele was expressed through HDL‐C levels ranging from 20 to 30 mg/dl in seven persons in two pedigrees. Early coronary heart disease was associated with the allele in one pedigree, but not in the other. In the pedigree without associated heart disease, HDL subfractions HDL2and HDL3were both low in individuals with the low HDL‐C allele. No other major locus determining either high or low levels of HDL‐C was identified in our sample. Polygenic heritability as part of the mixed model was estimated as .56

ISSN:0148-7299    

DOI:10.1002/ajmg.1320240108

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

年代:1986

数据来源: WILEY

摘要:

AbstractPatients with the cerebrohepatorenal syndrome of Zellweger lack peroxisomes and certain peroxisomal enzymes such as dihydroxyacetone phosphate acyltransferase in their tissues. Deficiency of this enzyme, which is necessary for glycerol ether lipid synthesis, provides a biochemical method for recognizing patients with subtle manifestations of Zellweger syndrome and suggests the utility of exogenous ether lipid precursors as a therapeutic strategy for these children. We describe the results of glycerol ether lipid supplementation to two children, one with classic Zellweger syndrome and 9% of control fibroblast dihydroxyacetone phosphate acyltransferase activity, and one with mild facial manifestations, wide sutures, hypotonia, developmental delay, hepatomegaly, peripheral retinal pigmentation, and 50% of control fibroblast dihydroxyacetone phosphate acyltransferase activity. An increase in erythrocyte plasmalogen levels following therapy was clearly demonstrated in the milder patient, and neither patient showed evidence of toxicity. Evaluation of therapy by comparison to the usual clinical course of Zellweger syndrome was not helpful because of the variability and incomplete documentation of 90 previously reported cases. The literature survey did provide criteria for classic Zellweger syndrome, which include hypotonia with or without deformation of limbs, large fontanels and split sutures, prominent forehead, flattened facial profile with hypoplastic supraorbital ridges, anteverted nares, highly arched palate, cryptorchidism or labial hypoplasia, hepatomegaly or elevated liver enzymes, peripheral pigmentation of the retina, renal cortical cysts, and characteristic neuropathology involving decreased myelinization, abnormal neuronal migration, and sudanophilic macrophages. Less severe patients, as exemplified by our case 2 and others from the literature, will not have all the classic features and can be recognized only by a growing panel of biochemical indicators. Our patient studies illustrate the complexity of designing comprehensive therapy for Zellweger‐like conditions, suggest other diseases that may involve peroxisomal alterations, and emphasize the need for multicenter, collaborative studies to evaluate biochemical heterogeneity and therapy of peroxisomal disorder

ISSN:0148-7299    

DOI:10.1002/ajmg.1320240109

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

年代:1986

数据来源: WILEY

摘要:

AbstractFive families with concurrent von Willebrand's disease (VWD) and classic hemophilia (hemophilia A) are described. Three were ascertained through women undergoing hemophilia carrier testing, one through an obligate carrier who also has VWD, and one through the affected father of a hemophiliac. The VWD probands exhibited Type I VWD with reduced Factor VIII‐related antigen (VIIIR: Ag) and/or von Willebrand factor on more than one occasion, normal VIIIR: Ag on crossed immunoelectrophoresis, and mild symptoms. No male had both disorders, but two obligate hemophilia carriers alos had VWD. Neither was detectable as a carrier by discriminant analysis. Four possible carriers of hemophilia had VWD and would also be classified as noncarriers statistically. These findings suggest that the presence of VWD may invalidate hemophilia carrier testing by conventional methods. The independent entry into the family of the two genes by mating of a hemophilia carrier and a VWD male is documented in two cases and probable in two. The observed frequency of such matings supports the hypothesis that VWD is a common disorde

ISSN:0148-7299    

DOI:10.1002/ajmg.1320240110

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

年代:1986

数据来源: WILEY

摘要:

AbstractWe report on a patient with oculo‐dento‐osseous dysplasia and bilateral persistence of the hyaloid system. Autosomal recessive inheritance may be the cause of this patient's condition since she was born to unaffected first‐cousin parents. Ocular findings in the recessive variety of this syndrome seem to be more severe than those in the more common dominant

ISSN:0148-7299    

DOI:10.1002/ajmg.1320240111

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

年代:1986

数据来源: WILEY