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Interstitial deletions without phenotypic effect: Prenatal diagnosis of a new family and brief review
Author(s) -
Barber John C. K.,
Mahl Harjit,
Portch Janet,
Crawfurd Martin D'A.
Publication year - 1991
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.1970110613
Subject(s) - amniocentesis , phenotype , prenatal diagnosis , karyotype , genetics , fetus , euchromatin , biology , medicine , chromosome , gene , pregnancy , heterochromatin
Abstract A 39‐year‐old woman (G4P1SAB2) was referred for amniocentesis for advanced maternal age. An interstitial deletion of the G‐dark band 11 pi 2 was found in the fetus. Blood from the mother and her previous son was cultured and the same deletion was found in both. The absence of phenotypic effect in this family further confirms that G‐dark euchromatic deletions are compatible with a normal phenotype, and underlines the importance of checking familial karyotypes even when apparently unbalanced structural rearrangements are found at prenatal diagnosis.