摘要:

AbstractA male child who first presented in the second year of life demonstrated all the recognized clinicopathological manifestations of juvenile polyposis with associated birth defects. Subsequent death at age 19 years from adenocarcinoma of the pancreas further broadens the recognized spectrum of possible sequelae in this disorder and is in keeping with current hypotheses of inherent cancer potential throughout the polyposis syndromes.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320320102

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

年代:1989

数据来源: WILEY

摘要:

AbstractThe clinical, hematological, and biochemical characteristics of a new family with heterozygous hemoglobin (Hb) Louisville are described. The family showed a decrease in both oxygen affinity and cooperativity with the normal Bohr effect. This family has the greatest number of affected members reported to date. Among the descendants, two first cousins (III‐10 and III‐11), both of whom are affected by the heterozygous trait of Hb Louisville, had had three abortions of undetermined cau

ISSN:0148-7299    

DOI:10.1002/ajmg.1320320103

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

年代:1989

数据来源: WILEY

ISSN:0148-7299    

DOI:10.1002/ajmg.1320320104

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

年代:1989

数据来源: WILEY

摘要:

AbstractIn a twin study of autistic disorder, chromosome analyses were carried out in nine pairs of monozygotic (MZ) twins, two pairs of dizygotic (DZ) twins, one set of MZ triplets, one single twin from a MZ pair, and seven single twins from DZ pairs. All but one of the MZ sets were concordant for autistic disorder; all DZ pairs were discordant. Fragile X(q)(27.3) was found in one pair of MZ twins and in MZ triplets, i.e., in 9% of the population with autistic disorder. A marker chromosome of unknown origin was detected in a male twin with autistic disorder from a discordant DZ pair.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320320105

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

年代:1989

数据来源: WILEY

摘要:

AbstractWe describe a preterm female infant with multiple anomalies who has a duplication of a large part of 4q and partial deletion of chromosome 1q. Her karyotype was interpreted to be 46,XX,−1, + der(1),t(1;4) (q44;q23 or 24)mat. She is the first patient with an unbalanced translocation involving chromosomes 4 and 1. There is a substantial amount of concordance between the phenotypic features of this patient and those described in the context of partial deletion 1q. The extensive duplication of 4q has no dominant clinical effects in the present infant. These facts support the general concept of much more deleterious effects of deletions versus duplications in human specie

ISSN:0148-7299    

DOI:10.1002/ajmg.1320320106

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

年代:1989

数据来源: WILEY

摘要:

AbstractA review of the anatomical changes in patients with various “first arch” syndromes shows that some anomalies (e.g., micrognathia, ear defects) generally appear together. This study tested the hypothesis that the mandible, zygomatic arch, and middle ear ossicles are a developmental field (i.e., when any of these structures is anomalous, the other two will be also). The hypothesis was tested using data from 25 patients with mandibulofacial dysostosis (MFD) and 40 patients with hemifacial microsomia (HFM).Analysis of the pooled data showed that the hypothesis of character association was generally supported. However, the medians suggested that different factors probably played a role in determining how these three anatomical structures were associated in MFD and HFM. Errors in chrondrogenesis may have been primarily responsible for the HFM phenotype. Alterations in Meckel and palatoquadrate cartilages would account for the size and shape changes observed in the ossicles and mandible, while changes in cranial base cartilages may explain the changes noted in the zygomatic arch. Since all three structures were equally affected in MFD, it is problematic to use an interference with chrondrogenesis as an explanation for the phenotype.We conclude that although the mandible, zygomatic arch, and middle ear ossicles appear to form a “developmental field,” the association between structures varies for HFM and MFD. The relatively lesser involvement of the zygomatic arch in HFM than in MFD suggests different pathogeneses for the two diagnostic groups and maybe a useful criterion for judging animal models

ISSN:0148-7299    

DOI:10.1002/ajmg.1320320107

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

年代:1989

数据来源: WILEY

摘要:

AbstractWe describe a family with autosomal dominant hypoparathyroidism. The 3 affected individuals had no detectable serum parathyroid hormone on radioimmunoassay. The propositus presented with seizures and on CT scan had bilateral basal ganglion calcification and calcification in the frontal lobes. His similarly affected mother had even more intracerebral calcification. The latter manifestation has not been described previously in autosomal dominant hypoparathyroidism.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320320108

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

年代:1989

数据来源: WILEY

摘要:

AbstractA newborn male infant was found to have an unusual pattern of congenital anomalies associated with an apparently balanced de novo reciprocal translocation: 46,XY,t(1;2)(p22;q22). The infant had a previously apparently undescribed multiple congenital anomalies and mental retardation syndrome.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320320109

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

年代:1989

数据来源: WILEY

摘要:

AbstractWe report on a patient with Klinefelter syndrome (KS) and the homogeneous aneuploidy 47,Xi(Xq)Y, or male trisomy Xq. He had many characteristics of classical KS: small testes, azoospermia, elevated FSH and LH, average intelligence, and normal androgenization, but his stature was not increased, compared with his father's and brothers'. The i(Xq), found in all cells analyzed, was late‐replicating, monocentric, and also asymmetric for the RBG‐banding of the two arms, indicating a different chronology of DNA synthesis in each arm. When indicated, in the seven previously reported cases, the level of plasma testosterone was always subnormal; it was normal (650 ng/100 ml) in our patient, who had normal masculinization. Thus the level of testosterone among patients with KS is not necessarily lower with an extra Xq. Furthermore, the sharp contrast in the height of KS patients with or without an i(Xq) is striking. It appears definitely possible to associate the isochromosome Xq Klinefelter syndrome with a lack of height incre

ISSN:0148-7299    

DOI:10.1002/ajmg.1320320110

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

年代:1989

数据来源: WILEY

摘要:

AbstractRecently, increased spontaneous chromosome instability was reported in couples with recurrent spontaneous abortions but without constitutional chromosome aberrations. Therefore, we investigated the frequency and distribution of aphidicolin‐induced common fragile sites in couples with recurrent spontaneous abortions and no children and in age‐related control couples. The breakage rate was significantly elevated in the abortion‐prone couples; the women in the abortion couples had an especially higher breakage rate than the control women. Breakpoints cluster to those chromosome regions where common fragile sites have been localized. No preference of a particular common fragile site was demonstrated in the abortion couples. Our findings appear to support the hypothesis of increased chromosome instability in at least some couples with recurrent spontaneous abortions. As long as the nature of aphidicolin‐induced common fragile sites is not completely understood, the significance of these findings remains

ISSN:0148-7299    

DOI:10.1002/ajmg.1320320111

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

年代:1989

数据来源: WILEY