Genetic compensation in a human genomic disorder.
Cytogenetic studies of the parents of a girl with the DiGeorge (or velocardiofacial) syndrome, who carried a deletion at 22q11.2, revealed an unexpected rearrangement of both 22q11.2 regions in the unaffected father. He carried a 22q11.2 deletion on one copy of chromosome 22 and a reciprocal 22q11.2 duplication on the other copy of chromosome 22. Genetic compensation, which is consistent with the normal phenotype of the father, was shown through quantitative-expression analyses of genes located within the genetic region associated with the DiGeorge syndrome. This finding has implications for genetic counseling and represents a case of genetic compensation in a human genomic disorder.
Carelle-Calmels
Nadège
N
Department of Cytogenetics, Strasbourg University Hospital, Strasbourg, France.
Saugier-Veber
Pascale
P
Girard-Lemaire
Françoise
F
Rudolf
Gabrielle
G
Doray
Bérénice
B
Guérin
Eric
E
Kuhn
Pierre
P
Arrivé
Mathilde
M
Gilch
Catherine
C
Schmitt
Evelyne
E
Fehrenbach
Séverine
S
Schnebelen
Albert
A
Frébourg
Thierry
T
Flori
Elisabeth
E
D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D004062:DiGeorge Syndrome / Q000235:genetics*; D004303:Dosage Compensation, Genetic; D005220:Fathers; D005260:Female; D020440:Gene Duplication; D015321:Gene Rearrangement; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D018895:Microsatellite Repeats; D010375:Pedigree; D010641:Phenotype