Sex chromosome pentasomy (49,XXXXY) presenting as cystic hygroma at 16 weeks' gestation

Abstract

The pentasomy 49,XXXXY is one of the rarest sex chromosome defects, occurring with an estimated incidence of 1 in 85000 male births. This condition is associated with pre‐ and postnatal growth deficiency, severe mental retardation, hypogenitalism, and other skeletal, facial and cardio‐vascular anomalies. In this report we present such a case diagnosed prenatally by chorionic villus sampling after the ultrasound detection of cystic hygroma at 16 weeks' gestation. Although the prenatal diagnosis of cystic hygroma and its association with aneuploidy has been documented in numerous reports, sex chromosome aneuploidy, other than the 45,X karyotype, accounts for only 0·3 per cent of cases. Copyright © 1999 John Wiley & Sons, Ltd.

Prenatal diagnosis and genetic analysis of X chromosome polysomy 49,XXXXY

“…Fetuses with a 49,XXXXY karyotype have been reported to be associated with abnormal prenatal sonographic ®ndings such as cystic hygroma (Cullen et al, 1990;Sepulveda et al, 1999), abnormal posturing of the lower extremities (Sepulveda et al, 1999) and hydrops fetalis (Hovav et al, 1993). These features were also seen in the present case, in which the second trimester ultrasound demonstrated hydrops fetalis, a large septated cystic hygroma colli, intrauterine growth retardation and clubfoot deformity.…”

Prenatal presentation of 49,XXXXY syndrome

“…Micropenis was suspected in 2 of 15 reported prenatal cases, and hypogenitalism was the most common postnatal exam finding. Our series adds to the prior literature establishing abnormal appearance of the fetal genitalia as a prenatal feature of 49,XXXXY, with now 4 of 17 reported cases demonstrating abnormalities of the fetal genitalia …”

XXXXY Syndrome

“…Hydrops fetalis 3. Cystic hygroma (Sepulveda et al 1999): the commonest finding (Peitsidis et al 2009) 4. Polyhydramnios 5.…”