title: Risk determination in cases with an extra minute chromosome: prenatal diagnosis.
abstract: 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.
authors.affiliation: Clinical Dysmorphology Laboratory, National Children's Medical Research Center, Tokyo, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Sago
authors.forename: K
authors.initials: K
authors.lastname: Iinuma
authors.forename: S
authors.initials: S
authors.lastname: Yoshiwara
authors.forename: T
authors.initials: T
authors.lastname: Takeda
authors.forename: O
authors.initials: O
authors.lastname: Takeda
authors.forename: T
authors.initials: T
authors.lastname: Onda
authors.forename: M
authors.initials: M
authors.lastname: Kitagawa
authors.forename: N
authors.initials: N
authors.lastname: Komuro
authors.forename: Y
authors.initials: Y
authors.lastname: Terashima
authors.forename: H
authors.initials: H
authors.lastname: Kinoshita
mesh_terms: D000328:Adult; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000175:diagnosis* / Q000235:genetics; D025063:Chromosome Disorders; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D011247:Pregnancy; D011256:Pregnancy Outcome; D011296:Prenatal Diagnosis / Q000379:methods; D012307:Risk Factors