ISSN:0148-7299    

DOI:10.1002/ajmg.1320160302

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

年代:1983

数据来源: WILEY

摘要:

AbstractWe have classified patients referred for suspicion of the Brachmann–De Lange syndrome (BDLS) into two groups using techniques of numerical taxonomy. Patients with the syndrome share an array of abnormal characteristics, and those without it have different abnormal characteristics. A group of 30 characters that best distinguish the two groups of patients was used to construct a diagnostic index. The index score is expected to divide 99% of patients into those with and without the syndrome, leaving 1% in a “zone of doubt.” All 46 patients used to construct the index and 16 new patients had scores in either the BDLS or non‐BDLS range and none were in the zone of doubt. A previously published index using metacarpal‐phalangeal measurements, although less discriminatory, confirmed our findings in 84% of 25 patients tested, the remainder having scores in the zone of doubt for t

ISSN:0148-7299    

DOI:10.1002/ajmg.1320160303

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

年代:1983

数据来源: WILEY

摘要:

AbstractA translocation t(3;7) (p21.1;p13) segregating through four generations was found to be invariably associated with the Greig cephalopolysyndactyly syndrome (GS). High resolution chromosome analyses using G and R banding did not uncover any imbalance of the affected chromosomes, nor were the late replicating patterns changed. One girl with the GS died of a medulloblastoma.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320160304

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

年代:1983

数据来源: WILEY

摘要:

AbstractIf a ring 21, originating from breaks close to the telomere of 21q and anywhere in 21p, replaces a normal 21, it may be associated with an apparently normal phenotype. An apparently normal mother and son were ascertained by a prenatal chromosome study. A second mother, with a ring 21 but without gross anomalies, is short of stature, has epilepsy, and has a low normal intelligence. Her daughter is a mosaic: 46, XX/47, XX, + r(21) and has the Down's syndrome. None of these four persons was found to have mitoses with more than one ring 21 or with rings of double size.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320160305

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

年代:1983

数据来源: WILEY

摘要:

AbstractWe present results of comparisons between consanguineous and control couples and their children in Southern Brasil. Multiple regression, t‐test and χ2analyses were applied to the data. The following variables were investigated; Parents: structure of first cousin marriages, latitude and longitude of birthplaces, cohabitation time, rurality, marriage age, occupation, number of liveborn children, and frequency of twinning. Schoolchildren: clinical data as classified into 24 discontinuous traits, each one subdivided into two categories (number and severity), and seven continuous traits (weight, height, pulse rate, respiratory rate, systolic pressure, diastolic pressure, and temperature); nutrition indices and biotype; family names; intelligence tests and school performances; birth order, age, hair color, hair type, eye color, and skin color; twinning in the sibship, and infant mortality among sibs of the propositi.Our study showed a) nonrandomness of consanguineous marriages as detected on structural, racial, geographical, and temporal levels; b) a heavy mutational load of about 1.5 lethons acting on infant mortality; c) no inbreeding effect on morbidity in general (with a possible exception of “ear morbidity”, including hearing deficit); d) a modest inbreeding depression on height (a decrease of 2 cm with an increase of 10% of inbreeding); e) a suggestion of inbreeding depression on “intel

ISSN:0148-7299    

DOI:10.1002/ajmg.1320160306

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

年代:1983

数据来源: WILEY

摘要:

AbstractWe describe a child with duplication of the distal segment of 14q. Her father carries a balanced translocation between chromosomes 14 and 15. A detailed table compares her clinical findings with those of the seven previously published cases and an additional three new cases in an effort to define a recognizable syndrome. Serum α‐1 antitrypsin levels and PI typing did not help to localize the α‐1 antitrypsin gene

ISSN:0148-7299    

DOI:10.1002/ajmg.1320160307

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

年代:1983

数据来源: WILEY

摘要:

AbstractCreatine‐kinase (CK) and pyruvate‐kinase (PK) were determined in cord blood samples from 125 normal newborn infants in order 1) to investigate the correlation between CK and PK, 2) to evaluate a possible influence of the mode of delivery (cesarean section versus vaginal delivery) and birth weight on enzyme activity, 3) to establish normal values for both sexes. In the present investigation, the enzyme activities of cord blood were significantly higher than in the normal adult, and no correlation was observed between enzyme activity and mode of delivery or birthweight.Although there was an apparent and significant correlation (r = 0.5) between CK and PK levels in cord blood samples, in no case did we find both high CK and PK values, something that would suggest preclinical DMD or a false‐positive result.These results have led us to suggest determination of serum PK activity in male newborn screening programs. This would allow an early discrimination between false‐positives and preclinical cases already in the neonatal period. Furthermore, the concomitant use of PK and CK in boys not walking by 18 months could be a useful test for diagnosing preclinical D

ISSN:0148-7299    

DOI:10.1002/ajmg.1320160308

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

年代:1983

数据来源: WILEY

ISSN:0148-7299    

DOI:10.1002/ajmg.1320160309

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

年代:1983

数据来源: WILEY

ISSN:0148-7299    

DOI:10.1002/ajmg.1320160310

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

年代:1983

数据来源: WILEY

ISSN:0148-7299    

DOI:10.1002/ajmg.1320160311

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

年代:1983

数据来源: WILEY