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Prenatal diagnosis of trisomy 12 mosaicism: Physical and developmental follow‐up
Author(s) -
Meck Jeanne M.,
Kozma Chahira,
Tchabo JeanGilles,
King Jeffrey C.,
Lencki Shaun,
Pinckert Thomas L.
Publication year - 1994
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970140919
Subject(s) - amniocentesis , trisomy , prenatal diagnosis , obstetrics , karyotype , psychomotor disorder , amnion , medicine , chromosome abnormality , psychomotor learning , pregnancy , gynecology , fetus , biology , chromosome , genetics , cognition , psychiatry , gene
Follow‐up evaluations were performed on a child at the ages of 2 years 8 months and also at 5 years who had been found on prenatal amniocentesis to be mosaic for trisomy 12. Eight of 36 colonies (22 per cent) were trisomy 12 at amniocentesis, with the remaining colonies showing a normal female karyotype. Cord blood, amnion, chorion, placental, and skin fibroblast chromosome studies failed to show any further evidence of a trisomy 12 cell line. At her evaluations, the child had normal physical and neurological findings. Psychomotor development was appropriate for age on screening.