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Microdeletion in the X-chromosome and prenatal diagnosis in a family with Norrie disease

✍ Scribed by Zhu, Danping ;Antonarakis, Stylianos E. ;Schmeckpeper, Barbara J. ;Diergaarde, Paul J. ;Greb, Anne E. ;Maumenee, Irene H.


Book ID
101445791
Publisher
John Wiley and Sons
Year
1989
Tongue
English
Weight
392 KB
Volume
33
Category
Article
ISSN
0148-7299

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PRENATAL DIAGNOSIS OF RING CHROMOSOME 6
✍ MARTHA E. WALKER; DAVID A. LYNCH-SALAMON; ATHENA MILATOVICH; HOWARD M. SAAL πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 774 KB

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