摘要:

Isolated cleft palate (CP) is considered to be a heterogeneous trait with an important genetic contribution to the etiology. Multifactorial‐threshold models of non‐syndromic CP inheritance assume a female predominance. The present study of 52 Danish birth cohorts, using several ascertainment sources, identified 2301 CP cases. It was found that, although females tended to be more severely affected than males, the overall sex ratio was close to one. For the latter half of the study period (1962‐87), which probably had the best ascertainment, the sex ratio for non‐syndromic CP was 0.95 (95% C.I. 0.85‐1.07). Marked difference in sex ratios for non‐syndromic overt CP including the hard palate (CPH) and non‐syndromic overt CP of the soft palate only (CPS) (0.69 vs 1.00, p<1.00, p<0.05) suggested that these two conditions may be etiologically distinct, a hypothesis which is embryologically plausible. In agreement with this hypothesis, Danish family data from surgically treated CP cases showed a strong tendency to segregate only one of the CP subtypes within families. Future studies are recommended to test the existence of a possible etiological difference betwee

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1994.tb04173.x

出版商:Blackwell Publishing Ltd    

年代:1994

数据来源: WILEY

摘要:

The emotional impact of carrier detection for CF was assessed in a group of adults tested before 1992. Of the 200 adults who received a mailed questionnaire, 70% participated. One third were CF gene carriers. The Health Orientation Scale (HOS) was used to evaluate perceived feelings about three situations: (a) How would you describe your feelings about yourself when you consider your test result? (b) How do you think most people feel when they are told that they carry the CF gene? (c) How do you think most people feel when they are told that they do not carry the CF gene? Comparing the profiles of CF carriers and non‐carriers, we found that carriers had significantly less positive feelings about themselves than non‐carriers. Carriers as well as non‐carriers attribute significantly more negative feelings to most carriers of the CF gene than to most non‐carriers. Moreover, carriers of the Cf gene attribute more negative feelings to other CF carriers than to themselves. Analysis of variance revealed a significant effect of carrier status on self‐description, as well as a significant effect of carrier status and degree of kinship with a CF patient on feelings attributed to most carriers. Although these results suggest some danger of stigmatization of CF carriers, the cognitive bias of ‘illusory superiority’ seems to counterbalance some o

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1994.tb04174.x

出版商:Blackwell Publishing Ltd    

年代:1994

数据来源: WILEY

摘要:

We describe a four‐generation Brazilian family with short tarsus and absence of the lower eyelashes, with normal intelligence. Autosomal dominant inheritance is eviden

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1994.tb04175.x

出版商:Blackwell Publishing Ltd    

年代:1994

数据来源: WILEY

摘要:

The aim of this investigation was to study the epidemiologic and genetic aspects of mental subnormality (MS) in Assiut Governorate, representing the Egyptian population. The sample comprised 3000 randomly selected subjects from three localities: one urban (Assiut City) and two adjacent rural villages. Age‐matched controls were chosen for comparison. The Stanford‐Binet test was administered to each individual. During history‐taking special attention was paid to consanguinity and categorization on a genetic basis. The results revealed 116 cases with MS, showing an overall prevalence of 3.9%, which varied in the three locations: 3.4% in Assiut City, and 3.8% and 4.4% in the two rural locations. Clinico‐genetic classification revealed the following: idiopathic MS 27.6%, MCA/MR syndromes 24.1%, primary CNS defect 12.9%, Martin‐Bell syndrome 10.3%, inborn errors of metabolism 9.5%, tetratogenic and environmental causes 5.2%, MS and epilepsy 4.3%, chromosomal disorders 3.4% and MS associated with psychiatric disorder 2.6%. Parental consanguinity was found in 65% of the total sample, which emphasizes the role played by that factor in the etiology of mental subnormality

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1994.tb04176.x

出版商:Blackwell Publishing Ltd    

年代:1994

数据来源: WILEY

摘要:

Our aim was to evaluate whether the sex of a fetus could be determined in maternal whole venous blood byin situhybridization without enrichment of fetal cells. This procedure is virtually without risks to the fetus or the mother. Blood samples were obtained from 59 women at different stages of pregnancy. Twenty preparations were discarded because they were technically unfit forin situhybridization. Of the remaining 39 pregnant women. 18 had a male fetus, one had male twins, and 20 had a female fetus. Y‐positive cells were detected in 12 of the 19 pregnancies with male fetuses and in two of the 20 pregnancies with a female fetus. The frequencies of cells with Y‐signals ranged from 1 in 100 000 to 1 in 639. Our results show that fetal cells in maternal blood cannot be reliably used for prenatal diagnosis without prior enrichment of fetal ce

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1994.tb04177.x

出版商:Blackwell Publishing Ltd    

年代:1994

数据来源: WILEY

摘要:

An Italian deficient G6PD variant associated with chronic non‐spherocytic haemolytic anaemia (CNSHA) was biochemically characterised and studied at molecular level. Single‐strand conformation polymorphism (SSCP) analysis led to the identification of an abnormal migration pattern of an amplified fragment encompassing exons 10 and 11 of the G6PD gene. Sequence analysis of both strands using an automated fluorescent DNA sequencer revealed a GA transition at nt. position 1246 in exon 10. A CT substitution at nt. 1311 in exon 11 was also found, which has already been described as a silent mutation common in Caucasians. The 1246 GA mutation has been described only in a Japanese subject with CNSHA (G6PD Tokyo) not associated with the 1311Tpolymorphism, suggesting that this mutation may have arisen independently in Europe and A

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1994.tb04178.x

出版商:Blackwell Publishing Ltd    

年代:1994

数据来源: WILEY

摘要:

High‐resolution chromosome banding and chromosomalin situsuppression hybridization were used to identify a derivative X in a 10‐month‐old female patient with congenital heart defect and slight dysmorphism. The unbalanced karyotype was monosomic for Xp22.3‐pter and trisomic for 3p23 ‐pter regions. The derivative X was inherited from the mother carrier of a balanced translocation (X;3) (p22.3;p23). Replication study of the patient showed the abnormal X,t(X;3) to be late replicating, except for the translocated segment. This patient demonstrated only epicanthus and congenital heart defect, despite her partial trisomy 3. The clinical phenotype may be less severe when the X‐chromosome is involved in an unbalanced tr

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1994.tb04179.x

出版商:Blackwell Publishing Ltd    

年代:1994

数据来源: WILEY

摘要:

A 12 1/2‐month‐old girl was referred because of short stature, short neck, large internipple distance and simian crease on her right hand. By routine cytogenetic techniques the presence of an unidentifiable marker chromosome and loss of one X chromosome was noted (i.e. 45, X/46, X, mar/47, X, mar, +mar). By fluorescencein situhybridization (FISH) technique, the marker chromosome was identified as an isodicentric non‐fluorescent Y chromosome ((45, X/46, X, idic (Ynf)/47, X, idic (Ynf), +idic (Ynf)). Although the clinical significance of this finding cannot be assessed at present, possible development of gonadoblastoma in such cases is a major concern and warrants follow‐up eval

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1994.tb04180.x

出版商:Blackwell Publishing Ltd    

年代:1994

数据来源: WILEY

摘要:

Several patients with partial 12p duplications are known. An additional patient, who presented with the clinical manifestations of trisomy 12p syndrome, is described.De novoduplication 12p13.1 →pter was diagnosed using subchromosomal painting libraries obtained from somatic cell hybrid

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1994.tb04181.x

出版商:Blackwell Publishing Ltd    

年代:1994

数据来源: WILEY

摘要:

We report a patient with Antley‐Bixler syndrome and review 13 patients from the literature. The cardinal features of this condition include craniosynostosis, severe mid‐face hypoplasia, proptosis, choanal atresia/stenosis, frontal bossing, dysplastic ears, depressed nasal bridge, radiohumeral synostosis, long‐bone fractures and femoral bowing, urogenital abnormalities and a normal karyotype. Early death was identified in 54% of the reported cases, usually due to respiratory complications. The oldest patient at the time of follow up was 10 years of age. Intellectual performance has been variable (developmental testing of our patint at 30 months of age showed a range of developmental skills equivalent to 6 to 11 months of age). Chronic respiratory distrees, especially if accompanied by periods of apnea, may be important in the causation of mental retardation. Some patients with the syndrome have normal itelligence, which suggests a normally developing brain, particularly if a craniectomy is performed to treat sutural synostosis and idicates that there may be secondary factors (e.g., apnea) plaing a role in the mental retardation (as seen in our patient with a history of apnea) in patients with the Antley‐Bixer syndrome. Since choanal atresia/stenosis which diminishes the airway passage is a cardinal feature of this syndrome, choanal stenting shoule be performed on those patients with this finding during infancy to decrease the airway obstruction. All patients followed beyond infancy were ambulatory, including our patient at 35 months of age, who will take steps with assistance. Although most cases are sporadic, there were reports of recurrence in siblings of both sexes in two families, suggesting an autosomal recessive mode of inhe

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1994.tb04182.x

出版商:Blackwell Publishing Ltd    

年代:1994

数据来源: WILEY