摘要:

AbstractThe hand pattern profiles of 18 previously published and 10 new cases of de Lange syndrome were compared to those of cases referred as suspects, but judged clinically and by numerical taxonomic methods not to have de Lange syndrome (non‐de Lange). Based on a Poznanski metacarpophalangel profile of the 2 groups of patients, a simple scoring system using 11 measurements was devised using the 16 most marked differences within and between metacarpals and phalanges. Of the metacarpals, the first is shorter than the second, third, fourth, or fifth; and the second fifth are shorter than the third or fourth. Of the middle phalanges, the third and fourth are shorter than the respective metacarpal and than the second and fifth middle phalanx. Of the distal phalanges, the fifth is shorter than the second. The mean Z score for these 11 measurements is further below normal in the de Lange group than in the non‐de Lange group. All 11 non‐de Lange patients had a score less than 17, and all 28 de Lange patients had a score of 18 or

ISSN:0148-7299    

DOI:10.1002/ajmg.1320030402

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

年代:1979

数据来源: WILEY

摘要:

AbstractDuplication (partial trisomy) of the long arm of chromosome 6 has been described in 5 children [Robertson et al, 1975, Chen et al, 1976, Clark, 1977]. We wish to report here an additional case due to a familial translocation in which the proband's karyotype is 46,XX,der(3),rcp(3;6)(p25;q21) mat. The phenotypes of the 6 children with duplication 6q are strikingly similar. Each child has duplication involving approximately the distal 1/3 to 1/2 of the long arm of hromosome 6. Distinctive features present in all 6 children include microcephaly, acrocephaly, prominent forehead, flat facial profile, depressed nasal bridge, flat malar areas, “carp” mouth, micrognathia and mental retardation. The phenotype of the duplication 6q syndrome is distinctive enough to be clinically recogniza

ISSN:0148-7299    

DOI:10.1002/ajmg.1320030403

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

年代:1979

数据来源: WILEY

摘要:

AbstractComplete or partial trisomy 14 is compatible with life. However, in the former case, mosaicism is probably always present. A case of trisomy 14 mosaicism is reported. Comparisons are made with other trisomy 14, trisomy 14 mosaicism, and duplication 14q cases previously reported. As a group, they share some clinical manifestations. The phenotype consists of multiple congenital anomalies, including microcephaly, broad nose, wide mouth, high or cleft palate, micrognathia, congenital heart disease, intrauterine growth retardation, and mental retardation. The present patient also has asthma, eczema, and developmental asymmetry.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320030404

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

年代:1979

数据来源: WILEY

摘要:

Abstract45,X/46,XY mosaicism was found in peripheral blood, bone marrow, and tissue cultures of an adult male with intestinal lymphangiectasia (IL). Turner phenotype was not present; his meiotic metaphase analysis was normal, and his dermatoglyphics resembled those of his family.Ten separate tissue culture lines from three biopsies of skin and thyroid gland contained 45,X cells (14.8 to 78.3%). Autosomal aneuploidy, resulting in pseudo‐ or hyperdiploidy, was also present in 4.3 to 41.6% of the cells. A hyperdiploid clone with a 47,X,+10,+18 karyotype was found in 22.6% of cells in one line. A second hyperdiploid clone with a 48,X,+2,+18,+18 karyotype occurred in 7.6% of cells from another line containing a total of 41.6% pseudo‐ and hyperdiploid cells. Such clonal abnormalities were not typical of tissue cultures from other patients done in our laboratory.Growth of our patient's tissue cultures was subnormal, and none proliferated beyond the fourth subculture. The significance of this observation remains to be determined. Our results do not allow us to conclude whether our patient's mosaicism of somatic tissues arose during embryogenesis, or whether it originated post‐natally. The secondary immunodeficiency which occurs in IL may explain persistence of cells with unusual combinations of autosomal aneuploidy in our patient's ti

ISSN:0148-7299    

DOI:10.1002/ajmg.1320030405

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

年代:1979

数据来源: WILEY

ISSN:0148-7299    

DOI:10.1002/ajmg.1320030406

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

年代:1979

数据来源: WILEY

摘要:

AbstractA survey of the 6,161 admissions to a pediatric hospital of Caracas during 1976 was conducted to determine the frequency and some characteristics of those admissions due to birth defects. The charts of all patients in whom a birth defect had been suspected or diagnosed during admission were reviewed and analyzed. These admissions numbered 629, that is 10.2% of the total, and were categorized as follows: 1) Birth defects of genetic origin: a) single gene – 3.2%; b) polygenic – multifactorial – 3.3%; c) chromosomal – 0.7%. 2) Birth defects due to an intrauterine insult – 0.1%. 3) Birth defects of unknown or heterogenous causes – 2.9%. The mean length of hospitalization was higher for birth defects patients than for all admissions: 15.6 and 11.6 days, respectively. There was no difference in mortality during admission between birth defects patients and all admissions, both being rather high, 8.2 and 8.3%, respectively.The lower prevalence of birth defects observed in this study as compared with North American surveys is due to several factors, among which the most relevant is the persistent burden of environmental infectious and nutritional diseases in the pediatric age population in Venezuela. Nevertheless, it is thought that the foreseeable improvement in medical care organization and socioeconomic conditions of the population will lead to a relative rise in the morbidity and mortality due to birth defects in the near future, as was the case in developed nations. Thus it is necessary to develop medical genetics services in major hospital centers in order to provide present and future demands of g

ISSN:0148-7299    

DOI:10.1002/ajmg.1320030407

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

年代:1979

数据来源: WILEY

ISSN:0148-7299    

DOI:10.1002/ajmg.1320030408

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

年代:1979

数据来源: WILEY

摘要:

AbstractThe prevalence at birth of anencephaly or spina bifida cystica among sibs of individuals born in British Columbia with these defects was studied using routinely collected records of morbidity and mortality within the province. The population prevalence of these neural‐tube defects in British Columbia is approximately 1.55 per thousand births, lower than in other areas where family studies have been carried out. A total of 1,028 affected individuals born in British Columbia during the period 1952–1970 was ascertained from health and vital documents collected on an ongoing basis by the Division of Vital Statistics of the British Columbia Ministry of Health. Information on the families of these cases was acquired using computer‐linked groupings of British Columbia marriage, birth, and stillbirth records.The risk of affected individuals among the sibs was 2.4%, about 15 times the population prevalence at birth. The prevalence among subsequent sibs of the first affected individual in a family was 2.1%. There was no difference in risk when various factors that influence the population incidence of these conditions were considered. The risk of recurrence of either of these anomalies after two previously affected sibs was 4.8%, or double the risk after one affected sib.From these results and those of a recent New York survey of sib risks of neural‐tube anomalies it would seem that the risk of anencephaly and spina bifida cystica to sibs of affected cases in North America is approximately half the risk in Great Britain, and it is this lower risk of 2% that should be used for genetic counseling in North

ISSN:0148-7299    

DOI:10.1002/ajmg.1320030409

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

年代:1979

数据来源: WILEY

摘要:

AbstractGerodermia osteodysplastica hereditaria was diagnosed in three Mexican brothers 6, 7, and 8 years old, respectively, who had the distinct facial appearance with sagging cheeks, premature wrinkling of the skin of face, abdomen, and dorsum of hands and feet; malocelusion, span greater than height; hyperextensibility; winging of the scapulae; stooped posture with kyphoscoliosis; protuberant abdomen; and pes planus. Radiologically they had generalized osteoporosis, platyspondily due to multiple compression fractures, pseudoepiphyses of second metacarpals, and dislocated hips.Three other families with a total of 14 affected individuals have been reported. Inter‐ and intrafamilial variability can be recognized, particularly regarding the tendency to fractures, upper: lower segment ratio abnormalities, and results of skin biopsies, which have shown fragmentation of the elastic fibers in some cases (including the present family) and not in others.Although inheritance was considered to be X‐linked recessive in the first reported family, an analysis of that pedigree together with those of the other reported families, including the present one, suggests that gerodermia osteodrysplastica is inherited in an autosomal recessive man

ISSN:0148-7299    

DOI:10.1002/ajmg.1320030410

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

年代:1979

数据来源: WILEY

ISSN:0148-7299    

DOI:10.1002/ajmg.1320030411

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

年代:1979

数据来源: WILEY