摘要:

The analysis of DNA repair processes is described in two pregnancies at risk for xeroderma pigmentosum. In both cases, excision repair (measured by unscheduled DNA synthesis) and postreplication repair were analyzed. An affected and an unaffected fetus were identified within 3 weeks after amniocentesis. The cells from the affected fetus were found to be deficient in excision DNA repair, whereas the PRR patterns were intermediate between those of normal and PRR deficient cells. This indicates the possibility of prenatal diagnosis of PRR deficient XP patients (XP variants).

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1979.tb00982.x

出版商:Blackwell Publishing Ltd    

年代:1979

数据来源: WILEY

摘要:

Two cases of the Prader‐Willi syndrome with 46, XY/47, XY, + mar are reported. The majority of Prader‐Willi patients with chromosome abnormalities have either 15/15 translocations or mosaicism. Both of these aberrations presumably occur after fertilization. A possible relationship between high parental age and chromosome abnormalities in the Prader‐Willi syndrome is disc

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1979.tb00983.x

出版商:Blackwell Publishing Ltd    

年代:1979

数据来源: WILEY

摘要:

A girl with a complex rearrangement of chromosome 9 is reported. She shows the characteristic clinical features of monosomy 9p syndrome. The rearrangement was apparently preceded by four breaks which resulted in a presumptive tiny deletion of the distal end of the short arm, inversion of the rest of this arm and a proven deletion of the secondary constriction region of the long arm. By means of C‐banding, it was possible to demonstrate the paternal origin of the rearranged chromosome 9. Finally, it is shown that the region determining the phenotypic expression of monosomy 9p syndrome is seemingly located at band 9p2

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1979.tb00984.x

出版商:Blackwell Publishing Ltd    

年代:1979

数据来源: WILEY

摘要:

A 10‐year‐old boy with a reciprocal translocation between chromosomes 17 and 18‐46XY, t (17;18) (q25; q21), appeared cytogenetically balanced. The patient was a healthy, thriving boy whose main abnormal feature was moderate mental retardation. However, abnormal ocular signs were present, including macular “fibrosis”, optic disc abnormalities with a traction retinal detachment, tapeto‐retinal degeneration, and tilting of the disc to the nasal side. These changes are consistent with the ocular changes previously described in the 18q‐ syndrome, suggesting that there has been a minimal deletion of chromosome material at the 18q21 breakpoint. The case also demonstrates that the ocular changes of the 18q‐ syndrome may

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1979.tb00985.x

出版商:Blackwell Publishing Ltd    

年代:1979

数据来源: WILEY

摘要:

An isochromosome for the long arm of chromosome number 18 ‐ 46, XY, i(18q) ‐ was found in an infant who had features of both trisomy 18 and 18p– syndromes. Findings compatible with trisomy 18 included postmature delivery, prominent occiput, severe congenital heart disease, overlapping fingers, and rocker‐bottom feet. Those of 18p– syndrome, which frequently resembles Turner syndrome, were downward obliquity to the palpebral fissures, short, webbed neck, low posterior hairline, and widely‐spaced nipples. The infant died of heart failure at 3.5 months of age. Parental karyotypes

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1979.tb00986.x

出版商:Blackwell Publishing Ltd    

年代:1979

数据来源: WILEY

摘要:

Oculodento‐osseous dysplasia (ODOD) has been recognised in three South African patients from two kindreds of Dutch descent. Their ocular, nasal, dental and digital stigmata resembled those of previously reported cases, but their cranial hyperostosis and mandibular overgrowth were of much greater degree. In addition, the two survivors had serious neurological complications consequent upon spinal cord compression at the base of the skull and calcification of the basal ganglia.Two of the patients were the product of marriages between a pair of brothers and a pair of sisters, who were themselves clinically normal. This situation is best explained by autosomal recessive inheritance. As ODOD is usually transmitted as an autosomal dominant, and in view of the unusual severity of the manifestations in our patients, it is possible that the condition is heterogeneous and that they had a distinct autosomal recessive form of the disorder. The presence of minimal stigmata in the mother and two prior generations of our third patient could be equally well interpreted as representing great variation in phenotypic expression of a single dominant gene or manifestation in a heterozygote for a recessive gen

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1979.tb00987.x

出版商:Blackwell Publishing Ltd    

年代:1979

数据来源: WILEY

摘要:

Paroxysmal nocturnal hemoglobinuria (PNH) is considered to be a clonal disorder, although most investigations have failed to show chromosomal abnormalities. The present patient suffered from PNH and exhibited in bone marrow cells two abnormal clones with 47 chromosomes in addition to cells with 46 chromosomes. One clone showed trisomy 9, a finding previously reported in leukemias and myeloproliferative disorders. Thus, PNH seems to be a clonal myeloproliferative disease.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1979.tb00988.x

出版商:Blackwell Publishing Ltd    

年代:1979

数据来源: WILEY

摘要:

The identification is reported of an extra bisatellited metacentric microchromosome in amniotic cell culture from the third pregnancy of an identical twin (amniocentesis being performed because of age), and its subsequent finding in the maternal parent as an inherited familial marker. The carriers of the microchromosome are all clinically normal and the parents opted for continuation of pregnancy. Only one other report was found in the literature of a similar microchromosome detected in amniotic fluid culture, but we believe ours to be the first bisatellited microchromosome to be clearly identified from an amniotic cell culture using silver staining.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1979.tb00989.x

出版商:Blackwell Publishing Ltd    

年代:1979

数据来源: WILEY

摘要:

A cytogenetic survey of 756 resident, but otherwise unselected, mentally retarded patients in a Scottish hospital is reported. The karyotypes of all patients were examined using orcein‐stained cells, and those found to be abnormal, other than those with standard trisomy 21, were further investigated using a banding technique. A total of 103 patients were found to have an abnormal chromosome complement, of whom 91 had Down's syndrome (including six with translocations), six had some other autosomal abnormality, and six had an abnormality of the sex chromosome complement, including two with an XXYY complement. Details of the clinical and cytogenetic features are presente

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1979.tb00990.x

出版商:Blackwell Publishing Ltd    

年代:1979

数据来源: WILEY

摘要:

A clinical description is given of a syndrome present in three postnatally and two prenatal‐ly detected cases with partial trisomy 16p, caused by a familial translocation t(16;21) (pll;q22). The most consistent features of this syndrome are: low birth weight, small head circumference, low‐set ears, palato(gnatho)schisis, micrognathia, thumb‐agenesis or hypoplasia, hypertonia, overlapping fingers, single umbilical artery, and psychomotor retardation. The clinical picture was identical to that described by Roberts&Duckett (1978) for a single

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1979.tb00991.x

出版商:Blackwell Publishing Ltd    

年代:1979

数据来源: WILEY