Four cases of trisomy 9p syndrome with particular chromosome rearrangements.
The authors present four children, two males and two females, with a 9p duplication, derived from various chromosome rearrangements, diagnosed using clinical, cytogenetic and biochemical evaluations. In particular, GALT dosage allowed them to define with accuracy the different chromosome break-points.
Bussani Mastellone
C
C
Dipartimento di Pediatria, Universitá degli Studi di Firenze, Italia.
Giovannucci Uzielli
M L
ML
Guarducci
S
S
Nathan
G
G
D002899:Chromosomes, Human, Pair 9; D005260:Female; D015321:Gene Rearrangement / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D013577:Syndrome; D014314:Trisomy