Mosaicism for structural non-centromeric autosomal rearrangement in prenatal diagnoses: evidence for sex-specific selection against chromosomal abnormalities

Table 1 Sex ratio in carriers of mosaicism for segmental autosomal mosaicism

Study groups	Unbalanced rearrangements			Balanced rearrangements
Study groups	Males	Females	Sex ratio	Males	Females	Sex ratio
Asymptomatic carriers of gonadal mosaicism (transmitting parents)^a	7	28	0.25	9	8
Asymptomatic carriers of somatic mosaicism (patients with reproductive disorders and fortitously detected carriers)^a	2	8	0.25	15	14
Total	9	36	0.25*	24	22	1.1
Affected carriers of somatic and gonadal mosaicism^a,b	95	133	0.7	7	6
Prenatally diagnosed affected carriers^c	15	23	0.65	2	1
Total	110	156	0.7**	9	7	1.3
Prenatally diagnosed normal carriers^c	18	10	1.8 ***	12	8	1.5

^aKovaleva, Cotter, 2016; ^bKovaleva, Cotter, 2017; ^cpresent data
*different from population ratio of 1.06, p < 0.0001
**different from population ratio of 1.06, p = 0.0009 (binomial test)
***different from SR = 0.7 in combined sample, p = 0.0348 (chisquare, Yates-corrected()

ISSN: 1755-8166