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PRENATAL DIAGNOSIS OF RING CHROMOSOME 6 IN A FETUS WITH HYDROCEPHALUS

โœ Scribed by MARTHA E. WALKER; DAVID A. LYNCH-SALAMON; ATHENA MILATOVICH; HOWARD M. SAAL

Publisher
John Wiley and Sons
Year
1996
Tongue
English
Weight
774 KB
Volume
16
Category
Article
ISSN
0197-3851

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โœฆ Synopsis

A patient with ring chromosome 6/monosomy 6 mosaicism is presented. At 25 weeks' gestation, ultrasound examination demonstrated fetal hydrocephalus. Amniocentesis was performed. The fetal karyotype was 45,XY, -61 45,XY, -6,+f/46,XY,r(6)(p25q27). Delivery of this male infant was by Caesarean section at 37 weeks' gestation. The karyotype in peripheral blood lymphocytes was 46,XY,r(6)(p25q27) with no indications of mosaicism. The infant had hydrocephalus which required treatment with a ventriculoperitoneal shunt at 22 days of age. He had no other obvious serious congenital anomalies. By 17 months he had developed microcephaly, seizures, severe bilateral hearing loss, and global development delay. This patient provides information regarding phenotypic variability of ring chromosome 6 and also reinforces the importance of offering amniocentesis if fetal hydrocephalus is detected as an isolated anomaly.

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