摘要:

The number and morphologies of cells rapidly adhering to glass (RA cells) found in amniotic fluids from foetuses with neural tube defects is independent of soluble factors in the supernatant fluid. Cells taken directly from brain and spinal cord of normal foetuses, which are rapidly adherent in culture, show numerous similarities to those RA cells which are present in the amniotic fluids of foetuses with neural tube defects. This suggests that RA cells in amniotic fluid may be reliably used as a diagnostic marker of foetal lesions involving neural tissue, in particular spina bifida and anencephaly. Other RA cells extracted from foetal peritoneal cavity and bone marrow also have distinctive morphologies and may be useful in early antenatal diagnosis of congenital defects such as exomphalos.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb00926.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY

摘要:

In a family, of which 32 members belonging to three generations could be examined, 21 subjects were normal, while 11 were affected by hyperlipoproteinaemia types IV and V or related biological disorders. Neither an autosomal dominant inheritance nor an autosomal recessive inheritance nor a multiple‐type hyperlipoproteinaemia can unreservedly be accepte

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb00927.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY

摘要:

One aim in the analysis of pedigree data may be to infer the mode of inheritance of a characteristic. If only “interesting” pedigrees are analysed, the ascertainment bias may lead to some modes of inheritance being unintentionally preferred. Also, it is clearly most efficient in attempting to make such inferences, if a decision on whether to continue sampling a pedigree is made conditional on the types of individuals who have been observed; ana prioridecision to examine 500 members of a pedigree may lead to much wasted effort, since the pedigree may prove to be largely uninformative. The present paper shows that providedallobserved families are included in the analysis, even those which appeared “uninteresting” or “sporadic” and were not sampled further, and provided a decision to continue sampling is made conditional on types observed up to that point, the correct likelihood for the mode of inheritance may be easily computed. This opens the way for a more detailed study of the wider problem of optimal sampling rules o

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb00928.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY

摘要:

Syndactyly Type II is reported in eight members of a family in four generations. Affected individuals show two distinctive patterns of variation in the expression of the gene. Distortion of dermatoglyphic patterns is associated with the severe but not the mild manifestation of the malformation. The diagnostic significance of minimal features of the condition is discussed. Linkage data suggest that loci for Syndactyly II and for blood‐group antigens ABO, MNSs, P, Rh and Kell are not closely linke

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb00929.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY

摘要:

An infant is described with multiple congenital anomalies associated with mosaic trisomy 9. Review of the three previously reported cases of trisomy 9 shows that these patients have several common features which make trisomy 9 a clinically distinct syndrome. The frequently encountered findings are: upward‐slanted eyes, small palpebral fissures, enophthalmos or microphthalmos, broad base and prominent tip of the nose, microcephaly, micrognathia, low‐set malformed ears, high‐arched palate, congenital heart disease, skeletal and genito‐urinary anomalies, abnormal palmar creases, failure to thrive, hypotonia and reta

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb00930.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY

摘要:

A 27‐year‐old, non‐retarded male with trisomy 8 mosaicism (46, XY/47, XY,+8) had a short head, a short broad‐bridged nose, a protruding upper lip, pterygium colli, moderate kypho‐scoliosis, camptodactyly of all fingers and deep furrowing on the soles. Radio‐graphic examination of columna showed spina bifida of L1 and fusion of L5 and S1. These findings are characteristic for the trisomy 8 syndrome.A psychological study showed a personality characterized by immaturity and lack of spontaneity and self‐confidence. An intelligence test (WAIS) placed him within the normal range, but presented an uneven development of the cognitive functions with special difficulties in synthetic abilities and visual scanning. His auditive span was rather low, and his memory functions were somewhat

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb00931.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY

摘要:

Four independently ascertained children who presented with unusual facies and delayed mental and physical development were found to have a similar deletion of part of the long arm of chromosome 7 (46, XX or XY, del(7)(q32); 46, XX or XY, del(7)(pter→q32:)). Comparison of the findings of these four cases with one other case report of a similar deletion revealed similar dysmorphologic features in all five case

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb00932.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY

摘要:

This paper reports two patients with a ring 22 chromosome which has been confirmed by Q‐banding. The literature contains 19 patients with a ring G‐group chromosome which has been shown by chromosome banding to be a ring 22. The most commonly reported features in affected patients have included: retardation with disproportionate verbal delay, reduced head circumference, hypotonia, unsteady gait, large ears with abnormal configuration, and epicanthic folds. The importance of these, as well as other, less often noted findings, is discussed in relation to a possible r(22) syndr

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb00933.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY

摘要:

Spinal muscular atrophy (S.M.A.) type I (Infantile Werdnig ‐ Hoffmann Disease) was found in 4:1,600 (1:400) infants of the Egyptian Karaite community. This group constitutes a representative sample of the Egyptian Karaite community in Israel, which numbers at present somewhat more than 7,000. The community existed as a religious and reproductive isolate for over 10 centuries. The very high gene frequency, 0.05 for the autosomal recessive gene of S.M.A. type I, is probably the result of genetic drif

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb00934.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb00935.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY