Rett syndrome: presumptive carriers of the gene defect. Sex ratio among their siblings
Akesson, H.O.; Hagberg, B.; Wahlström, J.
European Child and Adolescent Psychiatry 6(Suppl 1): 101-102
1997
ISSN/ISBN: 1018-8827 PMID: 9452931 Document Number: 475574
The live-born full siblings of 121 presumptive carriers of Rett syndrome belonging to eight pedigrees were examined as to sex ratio at birth. A total of 394 such siblings born in the period 1757-1966 were identified. 183 (46.4%) of them were male and 211 (53.6%) female, i.e., significantly fewer than in the average Swedish population (p = 0.03) were male. Our findings support the existence of one or more lethal alleles causing Rett syndrome.