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Journals and Conferences
We studied the mechanism of ring chromosome 21 (r(21)) formation in 13 patients (11 unique r(21)s), consisting of 7 from five families with familial r(21) and 6 with de novo r(21). The copy number of chromosome 21 sequences in the rings of these patients was determined by quantitative dosage analyses for 13 loci on 21q. Nine of 11 r(21)s, including the 5… (More)
A dysmorphic 3 year old boy with severe psychomotor retardation is described. His karyotype was 45,XY,t(13q;14q)rob, fra (12q13). The relationship between fra(12q13) and the clinical picture is discussed.
In a young male with Fanconi's anaemia, 10% of cells in a direct bone marrow preparation had chromosome abnormalities. Breaks involving primarily groups B and C members constituted the most frequent changes encountered, while 2 cells had either a dicentric or a ring chromosome. Smears from the same aspirate showed anaphase bridges in 3oo of mitoses. It is… (More)
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.
The Prader-Willi syndrome is frequently associated with cytogenetic abnormality involving chromosome 15.1 This report presents a new case of this syndrome with the karyotype 45,XX,-15,-19, +der(19),t(15 ;19)(ql2;ql3). The child was born at 8 months' gestation to young, unrelated parents. The mother's first pregnancy resulted in spontaneous abortion after 3… (More)
WI., He attended a school for the mentally disabled for 2 years with little success. He is now 178 cm tall, weight 70 kg, and head circumference 56 cm. He has pale blue irides, a slightly bulbous nose, and abnormal ears (fig 2). Testicular volume is 74 ml and 56.6 ml for the right and left testis respectively. IQ is 34. He becomes agitated, almost… (More)
A critical role of the X chromosome in primary determination of sex and fertility has recently been revealed. Studies of deletions of the X chromosome showed that in most cases of Xqaberrations the breaks occur within the critical region Xql3-q27,6 which is responsible for normal ovarian and female sex development. Female patients with deletions of the long… (More)
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).