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Risk Determination in Cases with an Extra Minute Chromosome: Prenatal Diagnosis
Author(s) -
Sago Haruhiko,
Iinuma Kazuso,
Yoshiwara Sachiko,
Takeda Tomoko,
Takeda Osamu,
Onda Takekazu,
Kitagawa Michihiro,
Komuro Nobuyoshi,
Terashima Yoshiteru,
Kinoshita Hideo
Publication year - 1991
Publication title -
asia‐oceania journal of obstetrics and gynaecology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.597
H-Index - 50
eISSN - 1447-0756
pISSN - 0389-2328
DOI - 10.1111/j.1447-0756.1991.tb00042.x
Subject(s) - flow chart , prenatal diagnosis , medicine , in utero , girl , pediatrics , guideline , obstetrics , pregnancy , genetics , pathology , biology , fetus , engineering drawing , engineering
The interpretation of an extra minute chromosome (EMC) detected in utero presents both diagnostic and prognostic problems. Two EMC cases are presented and a flow‐chart guideline is proposed for the determination of developmental risk. A prenatally detected EMC was familially inherited through a normal phenotype father. The pregnancy was continued and a normal baby boy was delivered. At one year his development was within normal ranges. The second EMC case was a mentally retarded girl examined at 4 years and 7 months of age. The EMC was identified with a combination of various staining techniques to be an inversion duplication (15). The importance of differential diagnosis of EMCs by DA/DAPI staining is emphasized.