Expression of fragile X chromosome and possible deletion in successive cell divisions.
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Biomedical subjects
Publications and source records attributed to Z Laća.
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A 35-year-old female patient with oligomenorrhoea had a deletion of the long arm of the X chromosome. The breakpoint at band q23 caused infertility in spite of excessive pituitary stimulation. The aberrant X chromosome was inactivated in all cells analysed.
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This paper presents a female patient with primary amenorrhea in whose karyotype an aberrant X chromosome was present. The chromosome resulted from the fusion of two X chromosomes at distal parts of the long arm and from the loss of the segment q24 leads to qter. The clinical and cytogenetic picture is compared with that of patients with the same aberration reported by other authors.
This paper presents the clinical and cytogenetic findings in a female patient with secondary amenorrhea and normal phenotype. Some difficulties related to karyotype-phenotype correlation are discussed.
Two patients with partial trisomy 7q are reported. The fathers of both patients are distantly related and carry the same balanced translocation - 46,XY,rep(4;7) (q35;q32).
Two brothers trisomic for the distal two thirds of 10p are reported. Trisomy results from the malsegregation of a familial translocation rcp (10;18)(p13;q23) present in the father, a half-brother and the grand-father of the propositi. The phenotype is comparable to that of other 10p trisomic patients reported in the literature.
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