A 2-year-old male, birth weight 3,100g with malformations and severe mental retardation had the karyotype 46,XY,der ( 9), (9qter--+9p24::18q21-->18qter)mat. Clinical features were round face, low set ears, high hair implantation, short and round nose, retrognatia, bilateral cryptorchidism, severe ps
Trisomy 18 and a constitutional maternal translocation (2;18)
β Scribed by Teshima, Ikuko E. ;Winsor, Elizabeth J. T. ;Van Allen, Margot I.
- Publisher
- John Wiley and Sons
- Year
- 1992
- Tongue
- English
- Weight
- 296 KB
- Volume
- 43
- Category
- Article
- ISSN
- 0148-7299
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This report describes a malformed infant with distal 2q trisomy/distal 18p monosomy due to adjacent segregation of a familial t(2;18). The rearrangement was present in four generations, and linkage studies were performed.
A component of placental isoferritin, p43, is an immuno-regulatory protein associated with suppression of the immune system. Maternal serum p43 levels increase throughout pregnancy and low serum levels have been associated with various pathological pregnancies, particularly those with a defect of pl