摘要:

Sidransky E, Tsuji S, Stubblefield BK, Currie J, FitzGibbon E, Ginns EI. Gaudier patients with oculomotor abnormalities do not have a unique genotype. Clin Genet 1992: 41: 1–5.Sixteen non‐Ashkenazic American children with Gaucher disease who demonstrate slowing of the horizontal saccades are described. Attempts to correlate this specific clinical phenotype with a unique genotype were unsuccessful. Focusing on the three most common mutations, at least five different genotypes were present in these patients. Children with this isolated oculomotor abnormality generally had a diffusely slowed background on EEG, but an otherwise normal neurologic examination, and exhibited earlier and more severe systemic manifestations and mortality. This study emphasizes the need for careful sequential neuro‐ophthalmo‐logic examinations in Gaucher patients and the need for caution in attempting to make clinical predictions regarding the course of Gaucher disease on the basis of current DNA mutational a

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1992.tb03618.x

出版商:Blackwell Publishing Ltd    

年代:1992

数据来源: WILEY

摘要:

Milman N, Graudal N, Nielsen LS, Fenger K. An HLA study in 74 Danish haemochromatosis patients and in 21 of their families. Clin Genet 1992: 41: 6–11HLA‐A and ‐B alleles in 74 Danish patients and 21 homozygous relatives with idiopathic haemochromatosis (IH) were compared with those in a sample of 1719 chromosomes from healthy Danish control subjects. The following alleles occurred with higher frequencies in IH compared to controls: A3: 53.6% vs. 15.1% (Pc<0.001); B7: 33.1% vs. 15.6% (Pc0.05). Pedigree analyses disclosed 19 different haplotypes in IH subjects, compared to 286 haplotypes in controls. The following haplotypes occurred with higher frequency in IH compared to controls: A3,B5: 10.3% vs. 0.3% (Pc0.05). The major IH marker HLA‐A3 was found in 56% of the haplotypes. The patterns of HLA‐alleles associated with IH in Denmark show similarities to those in Central Europe, Australia, USA and Canada, being A3,B7 dominated and those in Central Sweden, England and Ireland, being A3, B14

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1992.tb03619.x

出版商:Blackwell Publishing Ltd    

年代:1992

数据来源: WILEY

摘要:

Cohen Jr MM, Kreiborg S. Birth prevalence studies of the Crouzon syndrome: comparison of direct and indirect methods. Clin Genet 1992: 41: 12–15.An indirect method for estimating the birth prevalence of the Crouzon syndrome is presented. The fraction of Crouzon syndrome patients in large clinical surveys of all cases of craniosynostosis is calculated and the fractional component obtained is multiplied by the known birth prevalence of craniosynostosis in general. Crouzon syndrome makes up approximately 4.8% of all cases of craniosynostosis. Using a weighted average estimate, birth prevalence was calculated to be 16.5/1 000 000. The results of the indirect method compare favorably with those obtained by the direct method. Nevertheless, because the indirect method is based on a number of assumptions that are easily violated, we cannot recommend its general use except under special circumstance

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1992.tb03620.x

出版商:Blackwell Publishing Ltd    

年代:1992

数据来源: WILEY

摘要:

Grubben C, De Cock P, Borghgraef M, Van den Berghe H, Fryns JP. Severe pre‐ and postnatal growth retardation, developmental delay with hypotonia and marked hypertrophy of the distal extremities, dental anomalies and eczematous skin. A new autosomal recessive entity. Clin Genet 1992:41: 16–21.We report on three young children, two girls and one boy, with pre‐ and postnatal growth deficiency, hypotonia, psychomotor retardation with notably impaired speech development, hypotrophy of the distal extremities, small hands and feet, small and widely spaced teeth, eczematous skin, and, in two of them, a partial agenesis of the corpus callosum. To our knowledge this specific combination of features has not been reported before. Since the two girls are sisters and the boy is the product of a consanguineous marriage, the inheritance of this new syndrome appears to be autosomal rece

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1992.tb03621.x

出版商:Blackwell Publishing Ltd    

年代:1992

数据来源: WILEY

摘要:

Van Maldergem L, Wetzburger C, Verloes A, Fourneau C, Gillerot Y. Mental retardation with blepharo‐naso‐facial abnormalities and hand malformations: a new syndrome. Clin Genet 1992:41: 22–24.A syndrome involving facial abnormalities (telecanthus, epicanthus, broad flattened nose, large inverted W‐shaped mouth and malformed ears), malformed extremities (camptodactyly, clinodactyly, interdigital webbing and joint hyperlaxity) and mental retardation is described in a girl at birth and at 11 years old. A comparison with Pashayan‐Pruzansky syndrome, fetal alcohol syndrome, VATER association, Marden‐Walker syndrome and Tel‐Hashomer syndrome is discussed. We suggest this patient represents a new malformation syndrome or an extreme pheno‐typic variant of one of the above‐me

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1992.tb03622.x

出版商:Blackwell Publishing Ltd    

年代:1992

数据来源: WILEY

摘要:

Sarda P, Lefort G, Taviaux S, Humeau C, Rieu D. Interstitial deletion of chromosome 1 del (1) (q32 q42): case report and review of the literature. Clin Genet 1992:41:25–27.We describe the case of a female infant with multiple congenital anomalies who was found to have ade novodistal interstitial del (1) (q32 q42). The clinical features of other reports of similar deletions are briefly reviewed. No characteristic phenotype seems to be as yet definable due to the limited number of cases publishe

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1992.tb03623.x

出版商:Blackwell Publishing Ltd    

年代:1992

数据来源: WILEY

摘要:

De Arce MA, Costigan C, Gosden JR, Lawler M, Humphries P. Further evidence consistent with Yqh as an indicator of risk of gonadal blastoma in Y‐bearing mosaic Turner syndrome. Clin Genet 1992:41:28–32.An 8‐year‐old girl with some features of Turner syndrome and karyotype 45X/46XY had developed a bilateral gonadoblastoma in her rudimentary ovaries. Her normal Y chromosome showed the characteristic distal fluorescence, as seen in her father's. Another mosaic, this time 45X/46XidicY, and also with some Turner features had rudimentary ovaries, but no gonadoblastoma had developed at age 14.The nature of her idicY, which showed no fluorescent distal Yq and had one of the centromeres inactivated, was confirmed byin situhybridisation with a Yp‐specific probe. Using primers from a human Yp‐specific sequence, we amplified DNA extracted from paraffin‐embedded ovarian tissue from both cases, and from a normal testicle and a normal ovary as controls. The finding of the expected Y‐derived PCR product in the rudimentary gonads from these mosaic patients indicates the presence of their Y chromosome in both. We discuss the validity of the findings, and the possible role of sequences in or near the fluorescent part of Yq in the origin of gonadoblastoma in Y‐bearing mosai

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1992.tb03624.x

出版商:Blackwell Publishing Ltd    

年代:1992

数据来源: WILEY

摘要:

Romain DR. Chapman CJ. Fragile site Xq27.3 in a family without mental retardation. Clin Genet 1992:41: 33–35.Routine parental blood analysis for a couple undergoing prenatal diagnosis because of maternal age, revealed a 47,XXX karyotype in the mother and expression of the fragile site Xq27.3 in the father. Additional family studies show the fragile site in the father's sister and her two sons. There is no history of intellectual handicap in this family, nor of any physical manifestations of the Fra(X) mental retardation syndrom

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1992.tb03625.x

出版商:Blackwell Publishing Ltd    

年代:1992

数据来源: WILEY

摘要:

Graham DA, Jewitt MM, Fitzgerald PH. Trisomy 18 mosaicism with complete peripheral lymphocyte trisomy and normal intelligence. Clin Genet 1992:41: 36–38.We report a patient with trisomy 18 in all peripheral lymphocytes, mosaicism in cultured fibroblasts, mild nonspecific dysmorphic features, and normal intelligence. Trisomy 18 mosaicism with complete peripheral lymphocytic trisomy has not been previously described. The karyotype of lymphocytes is not diagnostic in the absence of congruent morphologic feature

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1992.tb03626.x

出版商:Blackwell Publishing Ltd    

年代:1992

数据来源: WILEY

摘要:

Holmgren G, Bergström S, Drugge U, Lundgren E, Nording‐Sikström C, Sandgren O, Steen L. Homozygosity for the transthyretin‐Met30‐gene in seven individuals with familial amyloidosis with polyneuropathy detected by restriction enzyme analysis of amplified genomic DNA sequences. Clin Genet 1992:41:39–41.Familial amyloidotic polyneuropathy (FAP) with a mutation in position 30 of transthyretin (TTR) (previously called prealbumin) is an autosoma! dominant inherited disorder characterized by varying degrees of peripheral neuropathy, nephropathy, gastrointestinal problems, and vitreous amyloid. We have earlier diagnosed homozygosity for the TTR‐Met30‐gene using Southern analysis in four Swedish individuals. We have found it possible to detect homozygosity for the Met‐30 mutation by amplifying discrete regions of the TTR‐gene using polymerase chain reaction (PCR), and the amplification products restricted with Nsil analysed by gel electro‐phoresis. Clinical data on seven homozygous individuals, including three new c

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1992.tb03627.x

出版商:Blackwell Publishing Ltd    

年代:1992

数据来源: WILEY