摘要:

AbstractThe effect of parental longevity on the length of survival of offspring has been examined according to selected demographic and environmental characteristics. The present study is based on 7,103 progeny, 20 years old or older. They were the sons and daughters of 1,766 men or women, 90 or more years old, who were alive in 1922–1930 at the time of ascertainment. The age at death of the other parent of the offspring is the basis of classification used in this analysis. A positive relationship was found between age at death of the non‐proband parent and the age at death of the offspring. This relationship existed regardless of similarities or differences in the characteristics analy

ISSN:0148-7299    

DOI:10.1002/ajmg.1320020202

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

年代:1978

数据来源: WILEY

摘要:

AbstractFamilial correlations for age at time of death have been computed in a French Canadian isolate. We show that parent‐offspring correlations as well as sib correlations are of the same order of magnitude as that between spouses for various age groups at death. It is suggested that heritability of survival is nearly zero. Observed variability in survival is interpreted as the effect of environmental differences acting upon age‐dependent ge

ISSN:0148-7299    

DOI:10.1002/ajmg.1320020203

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

年代:1978

数据来源: WILEY

摘要:

AbstractHypertelorism and hypospadias are described in four unrelated boys; bilateral cleft lip and cleft palate were also present in two of the boys and mild mental retardation in another. These features are compatible with both the G and BBB syndromes. When present, laryngotracheoesophageal anomalies or respiratory and swallowing difficulties are characteristic features of the G syndrome; otherwise facial features may be useful in distinguishing the G and BBB syndromes.Cases 1and2had anteverted nares and a broad and flat nasal bridge, andCase 1had shortened palpebral fissures, all consistent with the G syndrome. In contrast,Cases 3and4had a high and broad nasal bridge as previously described in the BBB syndrome. The father ofCase 1had mild hypertelorism and first‐degree hypospadias, demonstrating autosomal dominant inheritance in the G syndrome. The mothers ofCases 2, 3, and4all had mild hypertelorism consistent with autosomal dominant inheritance and partial male‐sex limitation, as previously proposed for both the G and BBB syndro

ISSN:0148-7299    

DOI:10.1002/ajmg.1320020204

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

年代:1978

数据来源: WILEY

摘要:

AbstractThree males with similar malformations including hypertelorism, telecanthus, cleft lip and palate, and hypospadias, have been evaluated. One also had a laryngotracheoesophageal cleft and therefore was considered to have the G syndrome. The other two had no stridor, aspiration, or difficulty swallowing, and were considered to have the BBB syndrome. Both disorders are associated with multiple malformations and can be most readily distinguished by the presence of laryngoesophageal abnormalities in the G syndrome and differences in facial features evident later in childhood. The BBB syndrome appears to be inherited as an X‐linked disorder with the affected female showing only telecanthus and hypertelorism. The G syndrome exhibits autosomal dominant inheritance with males more severely affected, although a few few females have had serious malformations in addition to telecanthus and hypertelorism. In the family with the G syndrome evaluated for this report, the mother of the affected infant had telecanthus, hypertelorism, and anosmia, the latter a feature not previously noted in this disorde

ISSN:0148-7299    

DOI:10.1002/ajmg.1320020205

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

年代:1978

数据来源: WILEY

摘要:

AbstractThe Papillon‐Lefèvre syndrome (PLS) is segregating in a large kindred of a Jewish isolate originating from Cochin, India. The frequency of the gene responsible for PLS among the Cochin Jews, 0.1, was estimated from the number of unrelated carriers in the isolate who married into the kindred. The obvious discrepancy between this apparently high gene frequency and the total absence of PLS in other kindreds of the isolate suggests that the syndrome may not behave as a simple autosomal recessive tra

ISSN:0148-7299    

DOI:10.1002/ajmg.1320020206

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

年代:1978

数据来源: WILEY

摘要:

AbstractFor several years the Clinical Genetics Research Laboratory at Martin, Czechoslovakia, has been studying alkaptonuria (AU) in the northern part of the District of Trenčín in Slovakia. These affected individuals are part of a group of 103 alkaptonurics originated mostly in the mountainous parts of Slovakia. We report results of pedigree analyses; population and affected‐family biochemical urine screening; estimation of inbreeding coefficient, of exogamy rate and of average marital distance and of calculation of the frequency of the AU allele, and of homozygotes and jeterozygotes in this portion of the Trenčín District. Twelve homozygotes were found, but seven originated from a single hamlet in which a founder effect – genetic drift and inbreeding – are thought to account for the high prevala

ISSN:0148-7299    

DOI:10.1002/ajmg.1320020207

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

年代:1978

数据来源: WILEY

摘要:

AbstractTwo cases of chromosomal mosaicism were prenatally diagnosed and confirmed in tissues cultured from subsequently aborted fetuses. In both cases a small marker chromosome was observed which proved de novo in origin, since parental chromosomes were normal. The implications and interpretation of such findings in counselling families undergoing amniocenteses is discussed. Mosaicism for small marker chromosomes may be more frequent than hitherto suggested.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320020208

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

年代:1978

数据来源: WILEY

摘要:

AbstractGenotypes of 17 patients with cystinuria were predicted from data based on excretion rates of the families' obligate carriers. The methodology differed from that used by other investigators as it did not employ intestinal biopsy studies or loading dose measurements. The Type I form was more common than either Type II or Type III and frequently occurred in combination to give compound heterozygous genotypes with the Type III form.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320020209

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

年代:1978

数据来源: WILEY

摘要:

AbstractPrevious reports have noted a constant association between the Carpenter syndrome (acrocephalopolysyndactyly, type II) and mental retardation. We report two patients with this condition with normal intelligence. These observations indicate that mental deficiency is not necessarily a component of the Carpenter syndrome and that early surgical correction of the craniosynostoses may improve the chances of normal mentality.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320020210

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

年代:1978

数据来源: WILEY

摘要:

AbstractAn 8.5‐month‐old baby girl had cerebral gigantism and primary hypothyroidism with generalized large muscles (the Kocher‐Debré‐Semelaigne syndrome). The significance of this association remains to be de

ISSN:0148-7299    

DOI:10.1002/ajmg.1320020211

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

年代:1978

数据来源: WILEY