Proximal 5p trisomy resulting from a marker chromosome implicates band 5p13 in 5p trisomy syndrome.
We describe an infant with trisomy of (5)(p10p13.1) resulting from a de novo marker chromosome. The marker's origin was identified by chromosome microdissection and reverse in situ hybridization. The clinical findings are compared to those of other partial and complete 5p duplications. This case further defines the critical region of 5p trisomy syndrome to proximal 5p.
Avansino
J R
JR
University of Nevada School of Medicine, Reno, Nevada.
Dennis
T R
TR
Spallone
P
P
Stock
A D
AD
Levin
M L
ML
D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D002871:Chromosome Banding; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D020732:Cytogenetic Analysis; D005260:Female; D005307:Fertilization in Vitro; D005819:Genetic Markers; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D013577:Syndrome; D014310:Triplets; D014314:Trisomy
D005819:Genetic Markers