Multicolor chromosomal bar coding characterizes a de novo interstitial deletion (5)(q33.3q35.2) in a child with multiple congenital malformations.
We describe a boy with multiple congenital anomalies including a complex heart defect, club feet, adducted thumbs, and facial dysmorphic features. He died at the age of 2 months following cardiac surgery. G-banding analysis identified an abnormal chromosome 5q suspected to be an interstitial deletion (5)(q33q35). Breakpoints of the deleted segment were confirmed as del(5)(q33.3q35) by multicolor fluorescence in situ hybridization (FISH) using two sets of combinatorially labeled band specific YAC clones. Findings are discussed in view of previously published cases.
Schiffer
Christiane
C
Institute of Human Genetics, University of Heidelberg, Germany.
Popp
Susanne
S
Moshir
Sharareh
S
Rupprath
Gerhard
G
Düngfelder
Elke
E
Hager
Hans-Dieter
HD
Tariverdian
Gholamali
G
Jauch
Anna
A
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000503:physiopathology; D002872:Chromosome Deletion; D020223:Chromosome Painting; D002895:Chromosomes, Human, Pair 5; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male