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First‐trimester prenatal diagnosis of homozygous (14;21) translocation in a fetus with 44 chromosomes
Author(s) -
Dallapiccola B.,
Ferranti G.,
Altissimi D.,
Colloridi F.,
Paesano R.
Publication year - 1989
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.1970090804
Subject(s) - chromosomal translocation , robertsonian translocation , prenatal diagnosis , fetus , psychomotor learning , obstetrics , genetics , down syndrome , pregnancy , medicine , biology , karyotype , chromosome , psychiatry , gene , cognition
A (14;21) homozygous Robertsonian translocation was detected by first‐trimester prenatal diagnosis. The related parents were heterozygous for the same translocation. At birth the baby was physically normal and had a normal psychomotor development. Together with a few previous observations in living homozygotes for (13;14) translocations, this case corroborates the idea that these subjects with 44 chromosomes are healthy without dysmorphic features.