摘要:

A complex dysostosis characterized by brachy‐ and/or ectrodactyly and fibular hypoplasia was found in two distantly related individuals. The proposita, aged 25 years, showed metacarpal and phalangeal hypoplasia on both hands, ectrodactyly on both feet, and nearly complete bilateral absence of the fibula. Only milder acromelic defects were detected in a second cousin. A similar pattern of skeletal involvement had been previously described in an unrelated Italian family. The peculiar segregation pattern can be explained by autosomal dominant inheritance with low penetrance and variable expressivit

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1990.tb03589.x

出版商:Blackwell Publishing Ltd    

年代:1990

数据来源: WILEY

摘要:

This paper describes the first case of Hb Bart's hydrops fetalis syndrome in the Sardinian population. Despite the high frequency of α‐thalassemia, fetal hydrops is extraordinarily rare in the Sardinian population because α‐thalassemia is more usually the result of the single α‐thalassemia globin gene deletion and is very rarely produced by the deletion of two α‐globin genes. The fetus, the product of a consanguineous marriage at risk for β‐thalassemia, was monitored by chorionic villi DNA analysis which detected the heterozygous state for the codon 39 nonsense mutation. Follow‐up ultrasound examination showed fetal hydrops, which led us to carry out further investigation. Hemoglobin and α‐globin gene analysis on cord blood obtained by cordocentesis revealed the homozygous state for the most common deletion α°‐thalassemia in Mediterranean populations. Retrospective evaluation of the father's hematological features showed very low MCH‐MCV for a β‐thalassemia carrier which may indicate coinherited α‐thalassemia. These findings indicate that careful evaluation of red cell indices of parents at risk for β‐thalassemia and adequate consideration of the consanguinity may point to co‐inherited α‐thalassem

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1990.tb03590.x

出版商:Blackwell Publishing Ltd    

年代:1990

数据来源: WILEY

摘要:

Familial Mediterranean fever is an autosomal recessive disease manifested by recurrent short episodes of fever associated with polyserositis. It is common in a variety of Mediterranean and near Eastern populations. The biochemical defect is unknown, and there have been few studies of genetic marker associations or linkage with the disease. We have screened blood samples from members of 14 nuclear Armenian families, the population with the highest known gene frequency, for 19 different polymorphic phenotypic genetic markers. These 14 families included 31 affected and 43 unaffected family members. No association was found with any of the markers studied. Linkage could be excluded at the distance of 0–15% recombination with 14 markers. Linkage could not be excluded with 5 other markers. These results exclude the FMF gene from those portions of the human gene map that are at least 0.5% recombination distance from these 14 genetic markers, and represent the first comprehensive step in the eventual localization and isolation of the FMF gen

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1990.tb03591.x

出版商:Blackwell Publishing Ltd    

年代:1990

数据来源: WILEY

摘要:

Prenatal diagnosis of cystic fibrosis based on amniotic fluid microvillar enzyme activity assay has become routine practice in the past few years. Normal (median) values of these enzymes were determined in 177 normal healthy pregnancies between 15–20 gestational weeks and were related to enzyme values measured in 50 pregnancies complicated with congenital malformations, 6 monogenic inherited diseases and 4 chromosomal aberrations. It is concluded that increased trehalase activity has diagnostic importance in detecting fetal kidney diseases, and radial‐renal syndrome (with elevated GGT activity), while low enzyme activities may indicate chromosomal aberrations (with no signs of intestinal obstruction). With the collection of further data, the analysis of these enzymes might provide an opportunity to set up diagnostic procedures for the detection of other, non‐CF‐relate

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1990.tb03592.x

出版商:Blackwell Publishing Ltd    

年代:1990

数据来源: WILEY

摘要:

Two cases of aphalangy, hemivertebrae, and urogenital‐intestinal dysgenesis in a sibship are described. This constellation of malformations may represent a previously undescribed autosomal recessive trai

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1990.tb03593.x

出版商:Blackwell Publishing Ltd    

年代:1990

数据来源: WILEY

摘要:

An unusual pedigree of female‐limited seizures with or without mental retardation is updated. The disorder was first detected in a large cohort of women whose fathers were brothers, and affected women had previously transmitted the disorder. Four brothers of affected females have now had five unaffected daughters while four affected women have had four affected and one unaffected daughters and two unaffected sons. This unusual transmission pattern is discussed in terms of germ‐line imprinting, neuronal sexual differentiation, and the generally higher risk of seizures seen when the mother, rather than the father, is affec

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1990.tb03594.x

出版商:Blackwell Publishing Ltd    

年代:1990

数据来源: WILEY

摘要:

A newborn male, born to Turkish first cousins, presented with severe pre‐ and postnatal growth retardation. Weight was 800 g at term. Salient clinical features were dwarfism with moderate limb shortening, microcephaly, hirsutism, facial dysmorphism including prominent small cloudy eyes, large nose with high nasal root, retrognathism and low‐set ears. Radiologic abnormalities included huge clavicles, dysplastic vertebrae and enlargement of proximal metaphyses with medial sp

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1990.tb03595.x

出版商:Blackwell Publishing Ltd    

年代:1990

数据来源: WILEY

摘要:

Clinical and genetic data of 10 patients with neurofibromatosis 2 (NF‐2) are presented. Interestingly, no family history of neurofibromatosis was detectable in any of them, which indicates that these are sporadic cases of NF‐2, most likely due to a new mutational event. According to our own results and the data in the literature, sporadic cases of NF‐2 are clinically characterized by a high incidence of multiple meningiomas and spinal tumors in addition to the bilateral occurrence of acoustic neurinomas. The clinical heterogeneity of NF‐2 is pointed out and the possible existence of different forms of this disease is di

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1990.tb03596.x

出版商:Blackwell Publishing Ltd    

年代:1990

数据来源: WILEY

摘要:

Three years' experience with direct karyotyping of cord blood and neonatal venous blood is recorded. Fifty cord blood samples have been processed and 39 yielded satisfactory diagnostic results. Eight of 14 neonatal venous blood samples yielded diagnostic chromosome results after direct karyotyping. Factors which affected success are discussed.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1990.tb03597.x

出版商:Blackwell Publishing Ltd    

年代:1990

数据来源: WILEY

摘要:

Trigonocephaly due to craniosynostosis of the sutura metopica was found in two sibs with normal intelligence. Both were microcephalic. The father had a sloping forehead and possibly partial metopic craniosynostosis. The paternal grandfather had a bony ridge at the upper half of the metopic suture without significant head deformity. A paternal sister was possibly also affected. None of the affected persons showed significant other anomalies. Craniosynostosis of the metopic suture may be an autosomal dominantly inherited disorder, not associated with functional brain or other abnormalities.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1990.tb03598.x

出版商:Blackwell Publishing Ltd    

年代:1990

数据来源: WILEY