摘要:

Accurate interpretation of chromosomal variants is essential in prenatal diagnosis in order to distinguish polymorphisms from potential pathology in the fetus. This paper reports intrauterine diagnosis of a satellited Yq in two unrelated families. The 29‐year‐old consultand in Case A sought prenatal diagnosis because of a maternal family history of Down syndrome. Case B was studied because of maternal age of 37. GTG banded chromosome analysis of cultured amniotic fluid cells from both cases revealed a 46, XY chromosome constitution with extra material present on the Yqter. This was interpreted to be satellite material. QFQ, CBG and AgNOR staining were performed. The material in question proved to be AgNOR positive, indicating that it was transcriptionally active for ribosomal RNA production during the last cell cycle. In addition, frequent satellite association between the Yqter and other acrocentric chromosomes was noted. These findings confirmed the initial interpretation. Other family members were studied and an AgNOR positive Yqs chromosome was confirmed in normal males in three generations of both families. The Yqs chromosome observed in the fetal cells was therefore considered a normal variant. The outcome of pregnancy in Case A was a phenotypically normal male. Case B had not delivered at the time of this writing. The origin of this satellite material on the Y chromosome is conside

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1983.tb00086.x

出版商:Blackwell Publishing Ltd    

年代:1983

数据来源: WILEY

摘要:

We report two brothers and two second cousins with 4p trisomy secondary to a familial translocation t(4;7) (pl2;q36). A comparison of their physical features demonstrates the variability of clinical manifestations associated with this chromosome abnormality. While previous authors have emphasized the distinctiveness of the 4p trisomy syndrome, the variability seen in the affected relatives in this family suggests that trisomy 4p is one of the less distinctive chromosomal syndromes. Further comparison of our patients with the previously reported cases of 4p trisomy and with two cases whose chromosomal breakpoints were similar confirms this variability. Studies of phenotype/karyotype correlations in affected relatives provides the best opportunity to determine the phenotypic consequences of a specific (that is, identical) translocation. Studies of unrelated persons are complicated by the effects of different breakpoints and of possible partial deletions.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1983.tb00087.x

出版商:Blackwell Publishing Ltd    

年代:1983

数据来源: WILEY

摘要:

Two male infants with almost complete trisomy 16q due to a maternal translocation, are reported. The phenotypic similarities of these patients who had trisomy 16qll‐>16qter and of the eight previously published reports of partial trisomy 16q, were compare

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1983.tb00088.x

出版商:Blackwell Publishing Ltd    

年代:1983

数据来源: WILEY

摘要:

A 14‐year‐old boy is described with hypogonadism, ichthyosis and mental retardation. His karyotype was 46, Y, der (X), t(X;) (p22;q11). His mother's karyotype was 46, X, der (X), t(X; Y) (p22;ql 1). Thus the son is nullisomic for the region Xp22 → pter and the mother is monosomic for the same region.The steroid sulfatase activity in this boy is discussed in relationship to the enzyme's locus on the X chromosome and the manifestation of ichth

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1983.tb00089.x

出版商:Blackwell Publishing Ltd    

年代:1983

数据来源: WILEY

摘要:

A male subject with Turner‐like stigmata and chromosomic constitution 45, XO (97.5%) and 49.XYYYY (1.1%) is reported.The finding of a low percentage line bearing Y chromosome in a patient with clinical features similar to those described for XO males, would support the hypothesis that masculinization in certain individuals with 45, XO karyotype may be due to an undetected mosaicis

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1983.tb00090.x

出版商:Blackwell Publishing Ltd    

年代:1983

数据来源: WILEY

摘要:

We report a case of trisomy 13 with cystic hygroma and generalized hydrops fetalis diagnosed prenatally by routine ultrasound prior to genetic amniocentesis in a 34‐year‐old woman. Although fetal cystic hygroma is usually associated with a 45, X karyotype, this and other previous reports suggest that it may be seen in association with other chromosomal and nonchromosomal abnormalities as well. Thus, a diagnosis of Turner Syndrome should not be made on the basis of a cystic hygroma observed by prenatal sonography al

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1983.tb00091.x

出版商:Blackwell Publishing Ltd    

年代:1983

数据来源: WILEY