摘要:

AbstractWe have determined the empirical reproductive risks for heterozygous carriers of complex chromosome rearrangements (CCRs). CCRs are structural rearrangements inolving at least three chromosomes and three or more chromosomal breakpoints. Pregnancy outcome, the frequency and type of chromosomal imbalance in the offspring, and the localization and distribution of chromosome breakpoints were analyzed in 25 CCR families ascertained by the birth of a malformed child or repeated spontaneous abortions. This study included two newly ascertained familial CCRs and a total of 67 informative pregnancies. Analysis of the data, after correction for ascertainment bias, showed that the incidence of spontaneous abortions in CCR families was 48.3%. Approximately one in ten pregnancies and 18.4% of all live births to CCR carriers resulted in phenotypically abnormal offspring. One‐half of all CCR carrier liveborn offspring were also CCR carriers. There was a 53.7% incidence of an abnormal pregnancy outcome to CCR carriers. We failed to detect any evidence for a non‐random involvement of specific chromosomes in CCRs. However, we did observe a non‐random distribution of specific breakpoints at sites 1q25, 4q13, 6q27, 7p14, 9q12, 11p11, 11p15, 12q21, 13q31, and

ISSN:0148-7299    

DOI:10.1002/ajmg.1320290202

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

年代:1988

数据来源: WILEY

摘要:

AbstractWe describe a man with manifestations of the Adams‐Oliver syndrome: congenital scalp defect with hypoplastic fingers and toes. The patient has normal first‐cousin parents: among seven sibs, three sisters and two brothers are normal; two brothers born with the same scalp lesion died as a consequence of bleeding from this abnormal area. There is no evidence of other affected relatives. The family of our patient is suggestive of autosomal recessive inheritance of this disorder with phenotypic manifestations identical to those present in the autosomal dominant form. Dermatoglyphic findings are discus

ISSN:0148-7299    

DOI:10.1002/ajmg.1320290203

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

年代:1988

数据来源: WILEY

摘要:

AbstractWe report on a boy with congenital scalp and limb defects, consistent with a diagnosis of Adams‐Oliver syndrome (aplasia cutis congenita with terminal transverse limb defects). An additional finding present in this child and in his mother was cutis marmorata telangiectatica congenita. Although this boy fits the diagnostic criteria for Adams‐Oliver syndrome, his mother does not. We discuss whether this condition is highly variable, or heterogene

ISSN:0148-7299    

DOI:10.1002/ajmg.1320290204

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

年代:1988

数据来源: WILEY

摘要:

AbstractAmong the multiple extracardiac abnormalities seen in the Noonan syndrome, several authors have mentioned an unexplained bleeding tendency. In 1983 Kitchens and Alexander reported on a partial deficiency of coagulation factor XI in four patients with Noonan syndrome. We examined 9 patients with Noonan syndrome and 9 of their 18 parents (3 of them also had Noonan syndrome). Four Noonan patients were found to have a partial deficiency of factor XI (30–65%). The Noonan patients had a mean factor XI level of 67%, significantly lower than the normal parents (mean level of 109%). Our study suggests a relationship between Noonan syndrome and a partial deficiency of factor X

ISSN:0148-7299    

DOI:10.1002/ajmg.1320290205

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

年代:1988

数据来源: WILEY

摘要:

AbstractWe describe a premature male infant with a terminal deletion of 7q [del(7) (pter→q34:)]. Manifestations include low birth weight, hypertelorism, bilateral cleft lip and palate, cryptorchidism, and a complex congenital heart defect. The latter consisted of hypoplasia of the main pulmonary artery, absent pulmonary valve, ventricular septal defect, and anomalous right pulmonary artery.We briefly review the spectrum of heart defects seen with chromosome 7 deletions, and comment on the incidence of this unusual heart lesio

ISSN:0148-7299    

DOI:10.1002/ajmg.1320290206

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

年代:1988

数据来源: WILEY

摘要:

AbstractA chromosomal abnormality was found in 42 (10.9%) out of 386 fetuses with a structural defect. Thirty‐five of these were diagnosed prenatally, following ultrasonic detection of one or more structural anomalies and associated pathology such as marked intrauterine growth retardation and polyhydramnios. Termination of pregnancy was carried out in 16 fetuses aged<26 weeks, intrauterine and neonatal death occurred in 20 cases, the remaining 6 infants were alive at 3 months.The poor outcome in these pregnancies emphasizes the need for prenatal chromosome analysis in the presence of a fetal structural defec

ISSN:0148-7299    

DOI:10.1002/ajmg.1320290207

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

年代:1988

数据来源: WILEY

摘要:

AbstractWe describe the results and follow‐up of chorionic villus studies in 1,034 pregnancies at risk for chromosome or metabolic disorders. Direct chromosome studies were successful in 99.7% and yielded results within a few days. Fifty pregnancies at risk for an unbalanced translocation, inherited from parents with many small reciprocal translocations, were a good test for the quality of the direct method.The 101 metabolic studies involving 28 disorders were correct in 99 pregnancies in the first trimester. In two cases a correct diagnosis was obtained by the confirmatory amniocentesis.DNA studies were carried out in pregnancies of male fetuses at risk for Duchenne muscular dystrophy and a few metabolic disorders.The abortion rate after chorionic villus sampling was 5.1 % but more than half of the pregnant women were ≥36 years old and have a spontaneous abortion rate of 10% between the 10th and 14th week according to Gustavii [Lancet 1:562, 1984]. Follow‐up studies confirmed results of all chromosome studies after termination when there was fetal cell growth; the outcome of 504 consecutive continuing pregnancies showed no discrepancies of the phenotype after birth.It was concluded that first‐trimester chorionic villi studies gave reliable results and were increasingly preferred by the patients, while the sampling can be considered a safe procedure based on the currently availab

ISSN:0148-7299    

DOI:10.1002/ajmg.1320290208

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

年代:1988

数据来源: WILEY

摘要:

AbstractWe report on 261 prospectively ascertained pregnancies studied to determine the recurrence risk of congenital hydrocephalus. Our results suggest that couples who have had one previous child with hydrocephalus have a recurrence risk of 4%. Such couples should be offered prenatal diagnosis in the second trimester of all subsequent pregnancies. It is suggested that, apart from the X‐linked recessive cases, ventriculomegaly is mostly multifactorially determine

ISSN:0148-7299    

DOI:10.1002/ajmg.1320290209

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

年代:1988

数据来源: WILEY

摘要:

AbstractThe role of altered developmental timing or heterochrony in morphologic evolution has intrigued classical and modern biologists. Analogous manifestations of developmental asynchrony occur in human dysmorphogenesis where they illustrate the residue and repertoire of phylogenetic change. Certain single malformations such as holoprosencephaly immediately suggest heterochrony by their resemblance to antecedent phylogenetic or embryologic structures. Multiple malformation syndromes of genetic, chromosomal, or teratogenic etiology may have altered developmental timing as an underlying theme. The persisting alpha‐fetoprotein synthesis in ataxia‐telangiectasia, the morphologic atavisms in Down or trisomy 13 syndromes, and the delayed growth or fetal to adult hemoglobin switch in diabetic embryopathy all exemplify developmental asynchrony. The perspective of heterochrony stresses the molecular history and hierarchy which is recapitulated with each pregnancy, and reconciles apparent discrepancies between the rates of molecular and morphologic evolution. Recognition of heterochrony places isolated anomalies in the context of pattern and suggests monitoring of teratogenesis through altered expression of ontogenetically regulated, phylogenetically relevant molecu

ISSN:0148-7299    

DOI:10.1002/ajmg.1320290210

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

年代:1988

数据来源: WILEY

摘要:

AbstractHepatoblastoma is a rare neoplasm of infants and children only recently documented in association with hereditary adenomatous polyposis of the colon [Kingston et al., 1983]. We report four children with hepatoblastoma from four unrelated families with Gardner syndrome (GS). One child, now 19 years old, survived after a resection of a hepatoblastoma in infancy and recently was found to have GS. He has an associated odontoma and pigmented ocular fundus lesions, both of which have been shown to be clinical markers of GS. Many individuals in these four GS families, both affected and at risk, have osteomatous jaw lesions and pigmented ocular fundus lesions.A search for colonic polyps should be made in families of infants and children with hepatoblastoma. If the child survives, he or she should be monitored for the later appearance of colonic polyps. The finding of jaw lesions and/or pigmented ocular fundus lesions in relatives at risk are indications of the possible presence of the GS gene.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320290211

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

年代:1988

数据来源: WILEY