摘要:

A further study of the electrocardiogram in patients with sex chromosome abnormalities who have no evidence of heart disease is described. It is confirmed that in 47, XYY males the atrioventricular conduction is delayed and that in 45, X females it is accelerated. In 47, XYY males there is also a higher than normal frequency of minor defects of intraventricular conduction. No significant deviation from normal was found in the electrocardiogram of men with a 47, XXY karyotype or in 47, XXX women. The significance of the finding is discussed.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1974.tb00623.x

出版商:Blackwell Publishing Ltd    

年代:1974

数据来源: WILEY

摘要:

The pedigree is described of a Mexican family with multiple epiphyseal dysplasia tarda (MEDT) suggestive of autosomal recessive inheritance. The parents were probably consanguineous and three of the five siblings of the propositus had the disease. The affected individuals had a total of 13 normal offspring, which makes dominant inheritance quite unlikely. Although most cases of MEDT follow an autosomal dominant pattern there are several families like that presented here, which suggests that this condition is heterogeneous.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1974.tb00624.x

出版商:Blackwell Publishing Ltd    

年代:1974

数据来源: WILEY

摘要:

A 19‐year‐old boy, with Klinefelter's syndrome and a history of LSD usage, developed acute lymphoblastic leukemia. The possibility is discussed that this was caused by cytogenetic injuries subsequent to LSD exposure and the inherited chromosomal anomaly acting in conc

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1974.tb00625.x

出版商:Blackwell Publishing Ltd    

年代:1974

数据来源: WILEY

摘要:

Among 5,049 consecutive liveborn children in a Danish maternity hospital, three had an extra small bisatellited metacentric chromosome, apparently an isochromosome of the short arms of a D or G group chromosome. In two of the probands' families, the deviating chromosome was inherited through three generations. One proband was a mosaic; her grandmother, mother and one sister had the karyotype 46, XX,9qh+; one of her brothers had the karyotype 46, XY,9qh+, and he had one daughter with the karyotype 46, XX,9qh+ and another daughter who was 45, X.All the carriers of an extra metacentric chromosome were normally developed, except one proband who died shortly after birth and displayed multiple, internal congenital abnormalities.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1974.tb00626.x

出版商:Blackwell Publishing Ltd    

年代:1974

数据来源: WILEY

摘要:

Congenital, severe, generalized muscle hypertonia during wakefulness, and normotonia during sleep were observed in a male infant, and were indirectly ascertained to have been present in six out of his 19 sibs. The neuromuscular impairment produced fetal hypokinesia, pharyngoesophageal dyskinesia and cardiopulmonary distress. The latter characteristic, further complicated by bronchopneumonia non‐responsive to therapy, seems to have led to the infants' early deaths (between 2 and 4 months of age). Another feature was the presence of umbilical herniae. The pedigree data were consistent with an autosomal recessive pattern of inheritance. This disease does not seem to have been described previousl

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1974.tb00627.x

出版商:Blackwell Publishing Ltd    

年代:1974

数据来源: WILEY

摘要:

Focal dermal hypoplasia in five sisters and their mother is presented. The lesions present in this family and in eight additional Mexican cases are reviewed. Fourteen out of 15 cases were females and two were males. All cases had cutaneous lesions, clinically typical of focal dermal hypoplasia; these were confirmed histologically. Osseous changes and syndactyly were the more frequently associated lesions. The resemblance of this syndrome to incontinentia pigmenti and to aplasia cutis congenita is stressed. The study of this family, together with five families reported in the literature, suggests X‐linked dominant inheritance with lethality in males. The known male cases could represent occasional survival or genetic heterogeneit

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1974.tb00628.x

出版商:Blackwell Publishing Ltd    

年代:1974

数据来源: WILEY

摘要:

A girl with the combination of hereditary spherocytosis and hereditary elliptocytosis is presented. She had a moderately severe haemolytic anaemia. This was the result either of a summation of the clinical effects of the involved genes or of the mutual enhancement of any of genes involved in the two conditions.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1974.tb00629.x

出版商:Blackwell Publishing Ltd    

年代:1974

数据来源: WILEY

摘要:

A syndrome has been observed in four individuals in three generations in which there is polydactyly and syndactyly of the hands and feet and triphalangeal thumbs. The syndrome is characterized by an unusual malformation of the lower extremities, in which there is hypoplasia of the tibia and a large, curved fibula dislocated on the femur. The pattern of inheritance is consistent with the action of an autosomal dominant gene.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1974.tb00630.x

出版商:Blackwell Publishing Ltd    

年代:1974

数据来源: WILEY

摘要:

A patient presenting with progressive mental and physical deterioration, convulsions and hypotonia was found to have increased urinary alanine and glycine. Arylsulfatase A activities in brain, liver, and kidney were one‐half to one‐fourth normal. Both acid phosphatase and beta‐glucuronidase activities were increased. Cholesterol sulfate and two unidentified lipids were present in elevated quantities in brain, liver, and kidney. Froth parents and the patient's only sibling were clinically normal and exhibited normal urinary amino acid excretion profiles. Glycine loading was unsuccessful in eliciting abnormal responses in the parents' excretion patterns. Both parents had normal levels of leukocyte beta‐glucuronidase and arylsulf

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1974.tb00631.x

出版商:Blackwell Publishing Ltd    

年代:1974

数据来源: WILEY

摘要:

Twenty‐one linkage relations of the C3 locus have been analyzed in Norwegian family material by means of the computer program MOSM. No suggestion of linkage was found. Excluding linkage intervals for which our data have reduced the probability of linkage by more than 95 %, it appears thatin males, PGM1, Rh and ACP1are not linked to C3 closer than TH –.40; Fy and HL‐A not closer than. 35; ABO and Hp not closer than. 30; Gm not closer than. 25; MNSs and K not closer than. 20; PGM3and Inv not closer than. 15; Do, Gc and Tf not closer than. 10; and Pi not closer than. 05.In females, PTC is not closer to C3 than. 20; Le(Se) not closer than. 15; Jk and P not closer than. 10; and Lu not closer than. 02. Low exclusion levels reflect low information except for C3‐Gc. But if the trend found for this relation should reflect a loose linkage, a very large amount of information would be necessary to estab

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1974.tb00632.x

出版商:Blackwell Publishing Ltd    

年代:1974

数据来源: WILEY