摘要:

AbstractA family study was conducted on 1,038 index patients with unidentified multiple congenital abnormality (MCA) patterns in the population‐based material of the Hungarian Congenital Malformation Registry (HCMR). Congenital abnormalities (CAs) were detected in 5.1% of fathers and in 4.2% of mothers, respectively. Two fathers had an MCA pattern similar to that in their affected child. One component CA of multimalformed index children occurred in 55.1% of fathers and 52.3% of mothers. Thus, in more than half of affected parent–child pairs, there may be a causal connection between the observed anomalies. The combination of CAs of different parental origin in index patients is called “additive CA pattern.” This group of patients may represent about 5% of unidentified MCA patterns and about 50% of affected parent–c

ISSN:0148-7299    

DOI:10.1002/ajmg.1320290402

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

年代:1988

数据来源: WILEY

摘要:

AbstractFive patients with interstitial deletion 13q are reported. High‐resolution chromosome banding established the diagnosis in two cases and stated the exact breakpoints in three remaining cases. All parents had normal chromosomes. An unequal and so far unexplained sex ratio of previously published and present cases was found: M:F = 1:2.75. Moderate to severe growth retardation was prominent in all patients. The patients were followed with psychological tests and growth data for 3–10 years. Mild to moderate mental retardation was present. Considerable phenotypic similarities were found in two patients with del(13)(q21.33 q31.3) and one with del(13)(q14.3q22.3). Repeat ophthalmological examinations showed no evidence of retinoblastoma in a male with del(13)(ql3.1q21.1).In conclusion, the long‐term study of five patients with interstitial deletion 13q, all evaluated with high‐resolution banding, contributed to a more reliable mental and growth prognosis in such p

ISSN:0148-7299    

DOI:10.1002/ajmg.1320290403

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

年代:1988

数据来源: WILEY

摘要:

AbstractConcordance for Goldenhar anomaly has been described in monozygotic(MZ) twins on 2 occasions but never in dizygotic (DZ) twins. In both cases the twins were similarly, although not identically, affected. We report on a pair of probably monozygotic twins (8% probability of DZ) who presented with extremely diverse manifestations of this anomaly complex. One of them required a tracheostomy because of obstructive apnea due to severe micrognathia and subsequently died. This twin had a midline lower lip cleft which has not previously been described in the Goldenhar anomaly.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320290404

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

年代:1988

数据来源: WILEY

摘要:

AbstractThirty‐five subjects with perfect pitch, representing 19 families, were studied with a Perfect Pitch Questionnaire, which provided information on note‐recognition capacity and musical exposure and training, as well as demographic characteristics. Perfect pitch was found to predominate in females and was detected at a very early age. The significant family incidence of the trait suggests the operation of genetic mechanisms concerning which speculations are presen

ISSN:0148-7299    

DOI:10.1002/ajmg.1320290405

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

年代:1988

数据来源: WILEY

摘要:

AbstractWe report on an infant with manifestations of Perlman syndrome including polyhydramnios, macrosomia, bilateral nephromegaly with nephroblastomatosis, visceromegaly and cryptorchidism. Other findings in this infant not seen in previous patients were diaphragmatic hernia, interrupted aortic arch, hypospadias and polysplenia. This infant meets the diagnostic criteria for Perlman syndrome, suggesting that diaphragmatic hernia and cardiac defects may be additional findings in this disorder.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320290406

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

年代:1988

数据来源: WILEY

摘要:

AbstractFurther evidence for a diagnosis of the Elephant Man's condition is reviewed. It is known that the Elephant Man had “mocassin” lesions, hyperostoses of the skull, and absence of café‐au‐lait spots, all of which are characteristic of Proteus syndrome. Recently, questions have been raised about his skeletal findings and their relevance to neurofibromatosis. However, other skeletal diagnoses have been entertained, including Maffucci syndrome, Paget's disease of bone, pyarthrosis, and fibrous dysplasia. These diagnostic possibilities are discussed and evaluated critically. It is concluded that the skeletal findings are most consistent with Proteus syndrome and coincidental hip disease secondary to childhoo

ISSN:0148-7299    

DOI:10.1002/ajmg.1320290407

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

年代:1988

数据来源: WILEY

摘要:

AbstractWe report on 2 patients with macrocephaly, strabismus, esotropia, nystagmus, hypolonia, developmental delay, excessive size, unusual facial appearance, and improvement with age. Many of these abnormalities are present in Sotos sequence. The mothers of both patients share some characteristics with their children. These patients may represent an autosomal dominant form of Sotos sequence.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320290408

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

年代:1988

数据来源: WILEY

摘要:

AbstractFluctuating asymmetry (FA) of 8 morphometric traits was studied in 113 preterm infants (26–36 wk of gestation), 103 term infants (37–41 wk), and their respective parents. With 3 different measures of FA, the highest values were obtained from extremely preterm infants (26–29 wk), and the lowest from the group of term infants. The estimates of FA values among parents, particularly mothers, showed a similar, albeit less pronounced, trend. Multiple regression analysis of individual mean FA values, calculated in infants for the 8 studied bilateral traits, documented a significant inverse correlation with gestational age and with the health status of the infants and their mothers, as well as a positive correlation with the mothers' mean FA v

ISSN:0148-7299    

DOI:10.1002/ajmg.1320290409

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

年代:1988

数据来源: WILEY

摘要:

AbstractWe report on two patients with distal deletions of 6q. In one case a de novo translocation between chromosomes 6 and 7 resulted in del(6q25→6qter). The other case had a de novo deletion, also from 6q25 to 6qter. There have been eight previous reports of distal deletions of 6q. These patients have developmental retardation, microcephaly, craniofacial anomalies, various types of congenital heart defects, and anomalies of hands and feet. The facial similarities of our two patients and those in six published photographs are subtle and may represent an emerging phenotyp

ISSN:0148-7299    

DOI:10.1002/ajmg.1320290410

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

年代:1988

数据来源: WILEY

摘要:

AbstractThe approaches of 295 medical geneticists in the United States to 14 clinical problems and 3 screening situations that required a moral choice aresummarized. These data are part of a survey of 682 geneticists in 19 nations. Of 490 U.S. geneticists asked to participate, 295 (60%) returned anonymous detailed questionnaires. There was strong (>75%) consensus that preserving the mother's confidentiality overrides disclosure of true paternity; that conflicting test results, new/controversial interpretations of results, and ambiguous/artifactual results should be disclosed; that artificial insemination by donor, adoption, taking chances, contraception, sterilization, and in‐vitro fertilization with a donor egg should be presented as reproductive options to carriers of disorders not diagnosable prenatally; that prenatal diagnosis should be performed for patients who refuse abortion and for maternal anxiety in the absence of medical indications; that screening in the workplace should be voluntary. There was no consensus about disclosure of a diagnosis of Huntington disease or hemophilia A to relatives at risk, against the patient's wishes, or about disclosure of parental translocations. Geneticists in the U.S. differed from 18 other nations in presenting surrogate motherhood as an option (67%); willingness to perform prenatal diagnosis for sex selection or refer (62%); and disclosure of XY genotype in a female (62%). Men were more likely than women to say that they would give directive counseling. Women were more likely than men to say that they would perform prenatal diagnosis for maternal anxiety or for sex selectio

ISSN:0148-7299    

DOI:10.1002/ajmg.1320290411

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

年代:1988

数据来源: WILEY