Article
Postnatal confirmation of prenatally diagnosed trisomy 16 mosaicism in two phenotypically abnormal liveborns.
Prenatal diagnosis - 1 Oct 1994
Pletcher B A, Sanz M M, Schlessel J S, Kunaporn S, McKenna C, Bialer M G, Alonso M L, Zaslav A L, Brown W T, Ray J H
Abstract excerpt
Two phenotypically abnormal liveborns in whom trisomy 16 mosaicism was diagnosed prenatally by amniocentesis are described. Analysis of a percutaneous umbilical blood sample in one case revealed a normal chromosomal complement. Ultrasound examinations performed at the time of amniocentesis were n...
Topics
- Abnormalities, Multiple
- Adult
- Amniocentesis
- Chromosome Aberrations
- Chromosome Disorders
- Chromosomes, Human, Pair 16
- Female
- Fetal Blood
- Fetal Diseases
- Fetal Growth Retardation
- Fibroblasts
- Heart Defects, Congenital
- Humans
- Infant, Newborn
- Male
- Maternal Age
- Mosaicism
- Phenotype