A balanced reciprocal translocation in a case of hypomelanosis of Ito with confirmation of mosaicism using buccal cell interphase FISH

2006 ◽  
Vol 140A (10) ◽  
pp. 1111-1113 ◽  
Author(s):  
W.T. Keng ◽  
L. Harewood ◽  
E. Grace ◽  
C. Paxton ◽  
W.W.K. Lam ◽  
...  
1992 ◽  
Vol 33 (2) ◽  
pp. 97-101 ◽  
Author(s):  
Eve Finkelstein ◽  
Eric Shinwell ◽  
Ilana Avinoach ◽  
Dafna Hallel-Halevy ◽  
Sima Halevy
Keyword(s):  

1984 ◽  
Vol 44 (2) ◽  
pp. 219-224 ◽  
Author(s):  
Ursula Mittwoch ◽  
Shantha Mahadevaiah ◽  
Leslie A. Setterfield

SUMMARYTwo male-sterile chromosome anomalies, the insertion Is(7; 1)40H and the tertiary trisomy, Ts(512)31H, were found to be associated with reduced ovarian volumes in immature females. Together with the reciprocal translocation, T(11; 19)42H, in which this effect was described previously, reduced ovaries have been found in all three male-sterile chromosome anomalies investigated so far, suggesting that ovarian involvement is likely to be common in these conditions. Assuming that the smaller ovarian size reflects a reduction in the number of oocytes, it is suggested that male-sterile chromosome anomalies may exert basically similar deleterious effects on meiotic germ cells in males and females, the difference in outcome being due to cell-physiological differences between spermatocytes and oocytes and to the small number of surviving oocytes required for fertility in females.


1992 ◽  
Vol 52 (3) ◽  
pp. 367-370 ◽  
Author(s):  
K. Anamthawat-Jonsson ◽  
S.E. Long ◽  
P.K. Basrur ◽  
S. Adalsteinsson

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