ISSN:0148-7299    

DOI:10.1002/ajmg.1320170302

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

年代:1984

数据来源: WILEY

摘要:

AbstractTo our knowledge, median cleft of nose without apparent hypertelorism (bifid nose) has been reported only twice [Esser, 1939; Boo‐chai, 1965]. We report five individuals in 3 generations of a family who had a bifid nose without apparent hypertelorism or mental retardation. In this family bifid nose was most likely an autosomal dominant trai

ISSN:0148-7299    

DOI:10.1002/ajmg.1320170303

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

年代:1984

数据来源: WILEY

摘要:

AbstractThe rate of sodium‐lithium countertransport (SLC flux) across red cell membranes has been reported to be elevated in hypertensive persons and their relatives as compared to normotensive individuals without family histories of hypertension. We have investigated the inheritance of this trait in 434 persons from 10 kindreds. Relatives show positive correlation of SLC flux values, but there is no spouse‐spouse correlation. Pedigree analysis favors a model of polygenic inheritance over models of major‐gene inheritance. Major‐gene index statistics and offspring‐between‐parent statistics provide similar results. The proportion of total pheno‐typic variance that is attributable to polygenic differences between persons is estimated at 71%. The SLC flux values of hypertensive persons in this study population are lower than those reported from Boston, but are similar to those reported from Europe. We found a broad overlap of SLC flux values for hypertensive and normotensive persons. We conclude that SLC flux probably is not useful as a preclinical marker for essential

ISSN:0148-7299    

DOI:10.1002/ajmg.1320170304

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

年代:1984

数据来源: WILEY

摘要:

AbstractCurry and Hall [1979] described a large Spanish‐Mexican family with a pleiotropic autosomal dominant disorder of polydactyly, conical teeth, nail dysplasia, and short limbs. We describe a patient with similar manifestations, but from a different geographic and ethnic background. We propose that the disorder be called the Curry‐Hall syndr

ISSN:0148-7299    

DOI:10.1002/ajmg.1320170305

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

年代:1984

数据来源: WILEY

摘要:

AbstractWe describe two brothers with severe microcephaly, unusual retinal pigmentary anomalies, intellectual function in the average or low average range, and a strong family history of hyperreflexia. The brothers have a previously undescribed syndrome, while the hyperreflexia appears to represent a coincidental autosomal dominant Mendelian trait, perhaps linked to the Kell blood group system.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320170306

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

年代:1984

数据来源: WILEY

摘要:

AbstractWe describe a male infant with the Aarskog syndrome and his equally prominently affected mother. The propositus and his mother have a balanced X‐autosome translocation which originated in her. We postulate that the mother's translocation resulted in a presumed de novo point mutation for the Aarskog locus and that she has nonrandom inactivation of her structurally normal X. The full expression of the syndrome in the mother is compared to the partial expression in reported females. It is concluded that the Aarskog syndrome is an X‐linked disorder and that the locus for the syndrome is at X

ISSN:0148-7299    

DOI:10.1002/ajmg.1320170307

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

年代:1984

数据来源: WILEY

摘要:

AbstractIsolated tibial hemimelia is generally considered to occur sporadically. We report on isolated tibial hemimelia in two sibs born to phenotypically normal parents and review a similar case from the literature. These cases suggest autosomal‐recessive inheritance. Whether isolated tibial hemimelia represents a discrete syndrome or an expression of a disorder with wider phenotypic variability remains unclea

ISSN:0148-7299    

DOI:10.1002/ajmg.1320170308

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

年代:1984

数据来源: WILEY

摘要:

AbstractBlindness due to congenital falciform retinal folds and severe mental retardation were present in a male with an interstitial deletion, 46,XY, del(13) (q31.2q32.3).

ISSN:0148-7299    

DOI:10.1002/ajmg.1320170309

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

年代:1984

数据来源: WILEY

摘要:

AbstractWe studied G‐banded chromosome complements on 318 couples with 2 or more spontaneous abortions. Seven chromosome abnormalities were detected. Three women and one man were identified as carriers of balanced Robertsonian translocations, t(13;14), t(13;14), t(13;21), and t(14;22), respectively. Aneuploidy: 47,XXX; 47,XX, +marker; and 45,X/46,XX/47,XXX were found in the other 3 women. The overall aberration frequency was 2.2% of couples. When a stringent criterion of ≥ 3 consecutive spontaneous abortions was used, the frequency was 4.2%. In this series no chromosome aberrations were identified in couples with 2 spontaneous abortions and a live‐born child with congenital anomalies; 1 of 22 couples with 2 spontaneous abortions and a still‐born infant showed a chromosomal abnormality. Findings from the recent literature are compared with those from thi

ISSN:0148-7299    

DOI:10.1002/ajmg.1320170310

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

年代:1984

数据来源: WILEY

摘要:

AbstractInformation on linked markers can greatly improve estimates of recurrence risk for genetic disorders. However, when linkage is incomplete, utilizing the information in genetic counseling requires complex, repetitive calculations to estimate correct risks whenever the parental linkage phase is not precisely known. This paper demonstrates with examples how the computer program LIPED can be used for any pedigree to estimate risk precisely within bounds determined only by confidence limits on the recombination fraction.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320170311

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

年代:1984

数据来源: WILEY