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Table 1 Results of two fetuses with sSMC

From: Prenatal genetic analysis and differential pregnancy outcomes of two de novo cases showing mosaic isodicentric Y chromosome

Fetus No.

Fetus 1

Fetus 2

Karyotyping

mos 45, X[92]/46, X,+ idic(Y)[8]

mos 45,X[20]/46,X,+ idic(Y)[80]

SNP Array

7.76 Mb deletion in Yq11.222q11.23; 15.68 Mb duplication in Yp11.2q11.21

21 Mb repetition in Yp11.3q11.223

FISH

mos nuc ish(DXZl×1,DYZ3 × 0)[178]/(DXZl×1, DYZ3×2)[22]

mos nuc ish(DXZl×1,DYZ3×0)[38]/ (DXZl×1, DYZ3×2)[162]

AZF

AZFa(+) AZFb+c(−)

AZFa+b + c(+)

Parental comparison

(−)

(−)

Outcome

Pregnancy terminated by no fetal examination.

Normal male born with normal development at 10 months of age