摘要:

AbstractWe describe an infant with a unique combination of a severe craniofacial dysostosis and a very distinctive facies, severe limb defects, a thoracic deformity, and an omphalocele as the major anomalies. We propose that this represents a “new” syndrome of multiple congenital abnormalit

ISSN:0148-7299    

DOI:10.1002/ajmg.1320360202

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

年代:1990

数据来源: WILEY

摘要:

AbstractHere we report on 4 unrelated patients with reciprocal translocations which resulted in duplication of the distal portion of chromosome 1q. Although the patients had certain non‐specific malformations in common, our investigation and a review of the literature do not suggest the existence of a distinct phenotype due to this chromosome abnormality. We think that the coexisting deletion present in each of these patients is responsible for most of the observed differences in clinical manifestations. The variable phenotype makes clinical recognition difficult and precludes making a long‐term progno

ISSN:0148-7299    

DOI:10.1002/ajmg.1320360203

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

年代:1990

数据来源: WILEY

摘要:

AbstractWe report on a patient with trisomy 18 syndrome and tetrasomy 18p. The case indicates that the presence of an isochromosome i(18p) can mimic complete trisomy 18 syndrome.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320360204

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

年代:1990

数据来源: WILEY

摘要:

AbstractSerum tests of thyroid function were compared in Down syndrome (DS) patients with and without manifestations of Alzheimer disease (AD). Relative to control individuals, DS patients had, overall, lower mean total T4 (P= 0.070) and T3 (P= 0.015), higher T3U (P= 0.013) and TSH (P= 0.020), no difference in free T4, and higher thyroid antithyroglobulin (ATA) (P= 0.033) and antimicrosomal autoantibody (AMA) titres (P= 0.0097). Similar trends were apparent in DS males and females, and in DS patients off all drugs. In an analysis of case/control pairs with corrections for age and sex, DS patients with AD manifestations (n = 9) had significantly lower T3 (P= 0.029) and higher AMA (P= 0.043) than paired control individuals, whereas DS patients without AD manifestations (n = 20) had significantly lower T3 (P= 0.013) but higher ATA (P= 0.0065). T3 was significantly lower in the DS patients with AD manifestations than in the unaffected (P= 0.0013). These data suggest that autoimmune thyroiditis associated with a mild “subclinical” form of hypothyroidism is common in adult DS patients and more pronounced in patients with AD manifestations than in those without. This “subclinical” hypothyroidism may contribute to cognitive deficits in ageing DS p

ISSN:0148-7299    

DOI:10.1002/ajmg.1320360205

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

年代:1990

数据来源: WILEY

摘要:

AbstractThis paper describes a visual approach to the input of information about human families into computer data bases, making use of the GEM graphic interface on the Atari ST. Similar approaches could be used on the Apple Macintosh or on the IBM PC AT (to which it has been transferred). For occasional users of pedigree analysis programs, this approach has considerable advantages in ease of use and accessibility. An example of such use might be the analysis of risk in families with Huntington disease using linked RFLPs. However, graphic interfaces do make much greater demands on the programmers of these systems.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320360206

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

年代:1990

数据来源: WILEY

摘要:

AbstractWe report on 2 sisters and one brother with severe dental anomalies, trichodysplasia, onychodysplasia, and slight skin alterations. Four other relatives have only mild dental anomalies. Differential diagnosis includes 3 other ectodermal dysplasias: hypodontia and nail dysgenesis, dermoodontodysplasia, and trichodermodysplasia with dental alterations. Cause is unknown.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320360207

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

年代:1990

数据来源: WILEY

摘要:

AbstractWe report an infant with a bronchiolitis‐like illness and rapid deterioration who developed a cor pulmonale‐like picture with a dilated right ventricle. Urinary organic acid assays established a probable diagnosis of Cbl‐C‐type methylmalonic aciduria, later confirmed by complementation studies. Despite medical intervention and cyanocobalamin treatment the patient died on his tenth hospital day. Postmortem examination showed the presence of thromboemboli in the pulmonary circulation. We hypothesize that acute cor pulmonale developed in this infant secondary to thromboembolism of his pulmonary circulation. A review of the literature shows that thromboembolism may be a part of this disease

ISSN:0148-7299    

DOI:10.1002/ajmg.1320360208

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

年代:1990

数据来源: WILEY

摘要:

AbstractAn infant with developmental delay and multiple minor congenital anomalies had a duplication of bands p11.1→p14.2 in 3p. Maternal chromosome studies demonstrated a direct intrachromosomal insertion within chromosome 3

ISSN:0148-7299    

DOI:10.1002/ajmg.1320360209

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

年代:1990

数据来源: WILEY

摘要:

AbstractWe report on the occurrence of an identical form of interrupted aortic arch and ventricular septal defect in a brother and sister whose parents are not consanguineous. The first child died on the 7th day of life without surgery 3 years ago; the second underwent surgical correction on the 5th day of life and is doing well.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320360210

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

年代:1990

数据来源: WILEY

摘要:

AbstractA computer simulation model was developed to study the effects of various feudal social customs on the incidence of lethal autosomal recessive genes. Populations of 500 individuals were created in which each person was characterized by sibship, genotype, and sex. The numbered sibships were sorted into numerical order. Each individual then sought a mate from 6 or 12 sibships on either side of his or her own sibship. The resulting couples were sorted in order of the husband's sibship number, after which the couples produced children in accordance with the prevailing birth rate. This ordering of sibships made the probability of a gene remaining in one locality higher than the probability of it drifting to distant localities.A lethal autosomal recessive gene was introduced into populations at a starting carrier rate of 10%. This fell after 20 generations to 2.54 ± 0.17% (SEM) which was significantly less than the 5.00% carrier rate predicted by a deterministic model in which random mating occurred in an infinite population. The excessive loss of the lethal gene was caused by the high incidence of consanguineous marriages and by the occurrence of random inequalities in the distribution of the gene. The avoidance of sib marriages raised the final carrier frequency (3.28 ± 0.19%) as did reproductive compensation (4.33 ± 0.26%). The combination of the incest taboo and reproductive compensation raised the final carrier rate to 5.05 ± 0.28%. It is concluded that the social factors which may have operated over a period of many centuries in the past have had a significant effect on the population genetics of lethal autosomal recessive ge

ISSN:0148-7299    

DOI:10.1002/ajmg.1320360211

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

年代:1990

数据来源: WILEY