摘要:

A Sephardi Jewish family is reported in which the two brothers had mental retardation, lower limb spasticity and bilateral clasped thumbs anomaly. This X‐linked recessive disorder has only been reported twice. We believe this syndrome comprises a distinct entity among the X‐linked mental retardation syndro

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1991.tb03105.x

出版商:Blackwell Publishing Ltd    

年代:1991

数据来源: WILEY

摘要:

An autosomal dominant dysplasia‐malformation syndrome affecting seven individuals in one family is reported. The components of the syndrome include congenital nasopalpebral lipoma, telecanthus, and bilateral colobomas of upper and lower lids without midface hypoplasia. It appears to be the second recorded example resulting from an autosomal dominant gene fully penetrant in both sexe

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1991.tb03106.x

出版商:Blackwell Publishing Ltd    

年代:1991

数据来源: WILEY

摘要:

The relationship between the cystic fibrosis (CF) genotype and endocrine and exocrine pancreatic function was studied in 215 CF patients. In the 211 patients with theΔF508 mutation, endocrine pancreatic function (oral glucose tolerance; WHO criteria) was normal in 72.5%, impaired in 12.3%, and diabetic in 15.2% of the patients, with no difference between CF patients homozygous (N=163, median age 15 years, range 2–40) or heterozygous (N=48, 18 years, 3–40; age difference not significant) for theΔF508 mutation. Exocrine pancreatic sufficiency (no need for pancreatic enzyme substitution) was found in 0.6% of the patients homozygous for theΔF508 mutation and in 10.4% of the heterozygotes (p<0.01). Homozygous patients with pancreatic insufficiency took more pancreatic enzyme capsules (median 42 per day, range 0–192) than the heterozygotes (29 per day, 0–300; p<0.001). The four patients (1.9%) without theΔF508 mutation had normal glucose tolerance but exocrine pancreatic insufficiency. In conclusion, the major mutation genotype in CF (ΔF508) affects the severity of the exocrine pancreatic insufficiency, whereas endocrine pancreatic function is unrelated to t

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1991.tb03107.x

出版商:Blackwell Publishing Ltd    

年代:1991

数据来源: WILEY

摘要:

A premature male infant is described in whom the presence of coarse facies, diaphragmatic hernia, genital anomalies and Dandy‐Walker malformation suggested a diagnosis of Fryns' syndrome. Lymphocyte karyotype revealed a partial trisomy 22, and his mother carried an apparently balanced 11/22 translocation. Three infants have been described recently with features of Fryns' syndrome and various aneuploidies. It is suggested that amplified developmental instability of the midline developmental field may account for some of the phenotypic resemblances between these case

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1991.tb03108.x

出版商:Blackwell Publishing Ltd    

年代:1991

数据来源: WILEY

摘要:

We report on a liveborn male infant with mosaic tetraploidy who presented with multiple congenital anomalies including features of the DiGeorge anomaly (type I truncus arteriosus with other cardiovascular malformations, thymic hypoplasia, hypocalcemia). No structural chromosome aberrations, namely of chromosome 22, were detected. These findings contribute to the variability of symptoms of the polyploid phenotype. Additionally, the cytogenetic studies in our case emphasize the necessity of investigating fibroblasts in order to evaluate the relevant proportion of aberrant cells in mosaicism.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1991.tb03109.x

出版商:Blackwell Publishing Ltd    

年代:1991

数据来源: WILEY

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1991.tb03110.x

出版商:Blackwell Publishing Ltd    

年代:1991

数据来源: WILEY

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1991.tb03111.x

出版商:Blackwell Publishing Ltd    

年代:1991

数据来源: WILEY