摘要:

Vitamin levels were measured in twenty women under 35 years of age with a history of two or more neural tube defect pregnancies. Each index case was compared with a female control matched for age, obstetric history and social class. The mean concentration of red cell folate in the subjects was 178 ng/ml, significantly lower than the mean of 268 ng/ml for the control group (P=0.005). Red cell folate levels showed a linear relationship with the number of neural tube defect pregnancies, the levels being lowest in women who had had three or four affected offspring. There was no significant difference in serum folate; plasma or white cell vitamin C; plasma vitamin A; thiamine, riboflavine or pyridoxine status; serum vitamin B12; plasma vitamin E; total protein, albumin, transferrin, magnesium, copper or zinc. Diet was assessed by a questionnaire. The dietary intakes of total folate and other vitamins except vitamin A were lower in the subjects than the controls but none of the differences were statistically significant. Regression analysis showed a difference between subjects and controls in the relationship of red cell folate to dietary folate.This study demonstrates an association between susceptibility to offspring with neural tube defects and depressed red cell folate levels which cannot be entirely attributed to a lower dietary intake of folate. It is postulated that one factor predisposing to the occurrence of neural tube defects may be an inherited disorder of folate metabolism.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1987.tb02809.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

In this paper female non‐identical twins of a known Duchenne carrier are presented; one has typical features and the anticipated progression of Duchenne dystrophy, the other appears to be normal. In addition, two female children with Duchenne‐like dystrophy are discussed. These cases show no evidence of translocation or mosaicism and offer an opportunity to reappraise the genetics of Duchenne dystrophy with specific regard to females. The subjects have been fully investigated, and in Case 3 the glycolytic enzymes and mitochondrial energy‐producing capacity were also st

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1987.tb02810.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

A semistructured personal interview was performed with 29 carriers of hemophilia A or B, 1–4 years after a pregnancy in which prenatal diagnosis (PND) of hemophilia was performed by fetal blood sampling. The carriers had received different recommendations regarding future pregnancies, and 14/29 did not know before they became pregnant that PND by fetal blood sampling was possible. One third of the women felt that important information was lacking in the consultations that preceded the PND.The conclusions regarding future genetic counselling are that more attention should be paid to improving education of all female carriers before a pregnancy, to motivating fathers‐to‐be to attend counselling sessions with the carriers, and to emphasizing the importance of the emotional support given by the family doctor and by other females who have experience

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1987.tb02811.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

We report a mother and son who have a microcephaly with a characteristic dysmorphic face. Prominent manifestations include facial asymmetry, prominent glabella, deafness, low‐set, cup‐shaped ears, thick, protruding lower lip, micrognathia, and mental retardation.We conclude that these patients have a previously undescribed type of genetic microcephaly. The mother has become normocephalic and we would not have been able to diagnose her condition without her childhood photographs. Such photographs are essential in the recognition of familial syndro

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1987.tb02812.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

In 492 cases of reciprocal translocations in balanced carriers, the 984 breakpoints were studied for a possible relationship to the 45 fragile sites. Random coincidence was predicted at 14% and the observed coincidence was 14.3%, indicating that the two events are unrelated. However, chromosomes 1,11 and 14 were exceptions and did show a statistically significant relationship.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1987.tb02813.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

Three individuals, ascertained for differing reasons, were found to have extra material in the proximal long arm of chromosome 15. The abnormal offspring of one of these also carried this chromosome. The extra material appears identical in all four individuals. The occurrence of this variant in patients of normal phenotype indicates that the region q11‐q13 of chromosome 15 contains material which can be duplicated with little effect, unless the gene whose disruption causes Prader‐Willi syndrome is involved at the breakpo

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1987.tb02814.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

Linkage studies using restriction fragment length polymorphisms were conducted in the X‐linked disorder, choroideremia, designated TCD for Progressive Tapeto‐Choroidal Dystrophy. Previously demonstrated close linkage with locus DXYS1 was confirmed (lod 11.44 at 0 recombination distance). In addition, locus DXYS12 was found to be closely linked with TCD (lod 3.31 at 0 recombination distance). The disease mainly occurs in three large kindreds in remote Northern Finland. While formal genealogical proof is lacking, all presently living (more than 80 affected males and 120 carrier females) probably originate from a common founder couple born in 1644 and 1646, twelve generations ago. All 36 patients and 48 carriers tested from the three kindreds had the same haplotype (TCD/DXYS1, llkb/DXYS12,1.6kb). Given that at least 105 female meioses transmitting TCD have occurred since 1650 in these kindreds, extremely close linkage between TCD, DXYS1 and DXYS12 is suggested. The above haplotype is a very useful diagnostic tool in these TCD families. We suggest that our historical‐genealogical approach to linkage analysis may be possible elsewhere in similar isolated popula

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1987.tb02815.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

We report seven cases of Angelman's syndrome from three families. Recurrence risks are not small, as previously suggested.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1987.tb02816.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

Two patients with the oro‐facial‐digital syndrome II or Mohr syndrome presented laryngeal anomalies and hallucal and postaxial polysyndactyly of the feet. Those rare malformations are typically observed in patients with the Majewski syndrome, a lethal, short rib‐polydactyly skeletal dysplasia with orofacial findings almost identical to those of the Mohr syndrome. Phenotypic overlap between the Mohr and the Majewski syndromes has already been reported in the literature, and it has been suggested that the two syndromes may be mild and severe expressions of the same autosomal recessive disorder. Our two cases give further support to this hypot

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1987.tb02817.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

We describe six generations of a family with an autosomal dominant condition combining different degrees of trichodysplasia and xeroderma.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1987.tb02818.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY