摘要:

AbstractWe report on a boy with hyperphalangism, partial syndactyly, facial anomalies, and diffuse bronchomalacia, born to a nonconsan‐guineous French‐Canadian couple. To our knowledge, this is a hitherto undescribed syndrome. © 1993 Wiley‐Lis

ISSN:0148-7299    

DOI:10.1002/ajmg.1320450103

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

年代:1993

数据来源: WILEY

摘要:

AbstractTheoretically, every pericentric inversion can give rise, during meiosis, to 2 alternate recombinant chromosomes. One of these will have a duplication of short arm material and deletion of long arm material (dup p), and the other, a duplication of a long arm material and deletion of short arm material (dup q). However, most published cases have been limited to a single recombinant type occurring within a given kindred. Here we document a large pericentric inversion of chromosome 4 which gave rise, within 2 generations of a kindred, to both dup p and dup q recombinants. The family was ascertained by the birth of a baby girl with multiple congenital anomalies suggestive of Wolf‐Hirschhorn syndrome, and was found to have a dup 4q recombinant. Subsequent studies of her father and of her 27‐year‐old mentally retarded aunt showed a balanced inv(4) (p15.32q35) and a dup 4p recombinant, respectively. Given that: (a) the balanced inversion involves approximately 87% of the length of chromosome 4; (b) the predicted meiotic pairing would be homosynapsis with loop formation; (c) the size of the segments distal to the breakpoints of the inversion are of similar and relatively small size; and (d) both recombinants are compatible with life, then the risk for recurrence of a recombinant in this family is high. Genetic counseling addressed these issues, and to date, both chronic villus sampling (CVS) and amniocentesis have been provided for prenatal diagnosis. © 1993 Wiley‐L

ISSN:0148-7299    

DOI:10.1002/ajmg.1320450104

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

年代:1993

数据来源: WILEY

摘要:

AbstractWe report on a 3‐year‐old boy with hair abnormalities and a generalized bone dysplasia. He had very short, sparse hair and craniosynotosis. His stature, growth, and limb lengths were normal, as was his neurological development. While this phenotype has some resemblance to cranioectodermal dysplasia, the radiographic and hair abnormalities are different. Histological studies showed abnormalities in the internal root sheath of the hair follicle and the hair shaft. These findings define a new ectodermal dysplasia syndrome of unknown cause. © 1993 Wiley‐Lis

ISSN:0148-7299    

DOI:10.1002/ajmg.1320450105

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

年代:1993

数据来源: WILEY

摘要:

AbstractWe report on a girl with short stature, mental retardation, mutism, “coarse” facial appearance, and papillary‐follicular thyroid carcinoma. She had dup(20p) derived from a paternal balanced translocation [(12p;20p)]. We speculate that the carcinoma in our patient may be related to the deletion of material from 12p resulting in absence of genetic material normally required for the suppression of thyroid tumorigenesis. © 1993 Wiley‐L

ISSN:0148-7299    

DOI:10.1002/ajmg.1320450106

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

年代:1993

数据来源: WILEY

摘要:

AbstractWe studied fetal and neonatal outcome of women maintained on anticoagulants (warfarin and/or heparin) during pregnancy. Among 22 Chinese families, 13 mothers (59%) had a history of recurrent abortion or stillbirth while being maintained on warfarin treatment. Twenty‐nine liveborn children (17 boys, 12 girls), ages 0.6–11.3 years at follow‐up, were analysed for evidence of embryopathy. These were subdivided into 2 groups. Group 1 consisted of 18 children (12 boys, 6 girls) whose mothers were only given warfarin during pregnancy. Five were small for gestational age, and 12 had features of warfarin embryopathy such as nasal hypoplasia. One had subependymal intraventricular hemorrhage shown on neonatal ultrasonography. Group 2 consisted of 11 children (5 boys, 6 girls) whose mothers were maintained on warfarin and heparin during pregnancy. Three were premature deliveries, and 4 had nasal hypoplasia. One had cleft lip, cleft palate, cataract, microphthalmia, intraventricular hemorrhage, and hydrocephalus. We found that despite the high risk of fetal wastage, there was a relative lower risk of major complications, except for some minor cosmetic defects such as nasal hypoplasia. This might lead to readjustment of advice concerning contraception given to pregnant women who were maintained on anticoagulant therapy. © 1993 Wiley‐L

ISSN:0148-7299    

DOI:10.1002/ajmg.1320450107

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

年代:1993

数据来源: WILEY

摘要:

AbstractWe describe a patient with familial neurofibromatosis (NF1), short stature, developmental delay, and a de novo chromosome abnormality. In sity hybridization was done using chromosome specific centromere probes to characterize the karyotype as 46,XX/47, XX,+r(X) (p11q11)/47,XX,+r(17) (p11q11)/48, XX,+r(X) (p11q11),+r(17) (p11q11). The NF1 mutation, as well as each superunmerary ring chromosome, may have played a role in perturbing the normal developmenal process of this patient. © 1993 Wiley‐Liss, I

ISSN:0148-7299    

DOI:10.1002/ajmg.1320450108

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

年代:1993

数据来源: WILEY

摘要:

AbstractThe study of fetal growth and development by ultrasound has been greatly facilitated in the past few years by the availability of anthropometric standards for the fetal body. Thus, the obstetrician is able to discern between normal and grossly abnormal, and even to quantitate certain fine fetal structures such as the face. This paper presents results obtained from a group of 5 patients referred to the Medical Center from private practices in Indianapolis, Indiana. Prenatal cephalometric analyses by ultrasound suggested the presence of craniofacial anomalies in all 5 cases. However, such defects were not detectable by routine ultrasonographic examination. A clinical examination after birth of each of these 5 patients suggested the following diagnoses: Fetal Alcohol Syndrome (FAS) in 2 individuals, Fetal Alcohol Effects (FAE) in one individual, Crouzon Syndrome (CS) in one patient, and Thanatophoric Dyslpasia (TD) in one patient. In order to compare the craniofacial measurement values for each patient to normal standards, we developed Z‐Score profiles and Pattern Variability Indexes (PVI) as described by Garn et al. [1984, 1985]. The values presented here support the idea that even mildly abnormal fetal craniofacial patterns are detectable by this relatively new application of ultrasound. At the present time, no conclusions can be made regarding the diagnostic accuracy of these patterns and profiles. However, the potential value of fetal cephalometry for documenting craniofacial dysmorphology is clearly indicated. © 1993 Wiley‐Liss,

ISSN:0148-7299    

DOI:10.1002/ajmg.1320450109

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

年代:1993

数据来源: WILEY

摘要:

AbstractTwo patients with osteoporosis pseudoglioma syndrome are described. Both are single children, born to nonconsanguineous, healthy parents.The first patient, a 17‐year‐old girl, had serious visual impairment since birth. She is severely dwarfed and has major skeletal deformities resulting in inability to walk since age 2 years.The second patient is an 18‐year‐old girl with unilateral neonatal blindness, short stature and deformities, mainly of pelvis and lower limbs. She has been able to walk with support up to now. The clinical and radiological findings in these 2 patients reflect the clinical variability of the condition.Results of collagen studies in both patients are normal and differentiate this condition clearly from severe osteogenesis imperfecta, which it resembles. © 1993 Wiley

ISSN:0148-7299    

DOI:10.1002/ajmg.1320450110

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

年代:1993

数据来源: WILEY

摘要:

AbstractWe present the clinical findings and follow‐up data from birth of 10.5 years in a boy with Greig cephalopolysyndactyly who, in addition, presents sinus node disease (“sick sinus syndrome”). The significance of the concurrence of Greig cephalopolysyndactyly syndrome, an autosomal dominant condition mapped at 7p13, and sinus node disease is discussed. © 1993 Wiley‐L

ISSN:0148-7299    

DOI:10.1002/ajmg.1320450111

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

年代:1993

数据来源: WILEY

摘要:

AbstractThe development of a presymptomatic test for Huntington Disease (HD) has enabled some persons at risk to determine whether or not they are gene carriers. The purpose of this study was to explore the reasons why those at risk choose not to be tested in a situation where testing is available and most of the test‐associated costs are covered by state funding. Subjects were also asked their levels of knowledge about testing, attitudes towards aspects of the testing protocols, and intentions towards testing once the gene for HD is found.Sixty‐six individuals at risk for HD who had chosen not to be tested completed a mailed questionnaire. The most important reasons for not being tested were increased risk to children if one was found to be a gene carrier, absence of an effective cure, potential loss of health insurance, financial costs of testing, and the inability to “unndo” the knowledge.Individuals comprising this sample were quite knowledgeable about predictive testing. Most supported the availability of testing despite the lack of a cure, the need for special counseling prior to testing, and the idea that testing should be a voluntary decision. Most said they would take the test if a treatment was available, if the mechanics of the test were simplified, or if the test was 100% accurate.The risk to relatives, lack of treatment or cure, fear of losing one's health insurance, and the accuracy of the information to be gained from testing are important factors in the decision not to be tested. © 1993 Wiley

ISSN:0148-7299    

DOI:10.1002/ajmg.1320450112

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

年代:1993

数据来源: WILEY