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Regarding trisomy 2p syndrome

✍ Scribed by Wellesley, Diana; Boyle, Tracy

Publisher: John Wiley and Sons
Year: 2000
Tongue: English
Weight: 2 KB
Volume: 92
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(20000605)92:4<295::aid-ajmg15>3.0.co;2-6

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✦ Synopsis

1999], "Trisomy 2p syndrome: A fetus with anencephaly and postaxial polydactyly." We would like to report on another case of anencephaly in a fetus with triplication of 2p23.1→2pter resulting from a paternally derived translocation. The karyotype in this case was 46,XX,der(3)t(2;3)(p23.1;q29)pat.

The fetus was diagnosed at 15 weeks with anencephaly when the mother presented for amniocentesis on account of the known paternal translocation. Autopsy confirmed anencephaly and demonstrated, in addition, a sacral meningomyelocoele; no other abnormalities were detected.

A paternal sister with the same unbalanced translocation is now 25 years old. She was not available for examination but is said to be severely retarded with absent tear ducts and a scoliosis. She is able to walk.

Neural tube defects have now been reported in several cases with trisomy 2p [

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