Table 1 Karyotype and CNVs results of the woman’s three pregnancies
The number of pregnancy | phenotypic | Sonographic findings | karyotype | results of CNV-seq | Pregnancy outcomes | gender |
|---|---|---|---|---|---|---|
First pregnancy | / | fetal edema and fluid buildup in the abdomen | / | dup(4)(q32.3q35.2) | odinopoeia | male |
del(5)(p15.33p15.2) | ||||||
del(15)(q11.1q11.2) | ||||||
Second pregnancy | high-pitched cat-like cry, developmental delay, severe psychomotor and mental retardation | No abnormality was found on ultrasound | 46,XY,der(5)t(4;5)(q33;p15)mat | del (5) (p15.33p15.2) | Born at term/boy | male |
dup (4) (q32.3q35.2) | ||||||
dup(1)(q41q42.11) | ||||||
dup(17)(p12) | ||||||
Third pregnancy | / | No abnormality was found on ultrasound | 46,XY,der(5)t(4;5)(q33;p15)mat | del (5) (p15.33p15.2) | odinopoeia | male |
dup (4) (q32.3q35.2) |