Partial DiGeorge syndrome in two patients with a 10p rearrangement.
We describe 2 patients with a partial DiGeorge syndrome (facial dysmorphism, hypoparathyroidism, renal agenesis, mental retardation) and a rearrangement of chromosome 10p. The first patient carries a complex chromosomal rearrangement, with a reciprocal insertional translocation between the short arm of chromosome 10 and the long arm of chromosome 8, with karyotype 46, XY ins(8;10) (8pter 8q13::10p15-->10p14::8q24.1-->8qter) ins(10:8) (10pter--> 10p15::8q24.1-->8q13::10p14-->10qter). The karyotype of the second patient shows a terminal deletion of the short arm of chromosome 10. In both patients, the breakpoints on chromosome 10p reside outside the previously determined DiGeorge critical region II (DGCRII). This is in agreement with previous reports of patients with a terminal deletion of 10p with breakpoints distal to the DGCRII and renal malformations/hypoparathyroidism, and thus adds to evidence that these features may be caused by haploinsufficiency of one or more genes distal to the DGCRII.
Van Esch
H
H
Laboratory for Molecular Oncology, Center for Human Genetics, University of Leuven and Flanders Interuniversity Institute for Biotechnology, Belgium.
Groenen
P
P
Daw
S
S
Poffyn
A
A
Holvoet
M
M
Scambler
P
P
Fryns
J P
JP
Van de Ven
W
W
Devriendt
K
K
D002648:Child; D018244:Chromosomes, Artificial, Yeast; D002879:Chromosomes, Human, Pair 10; D002898:Chromosomes, Human, Pair 8; D002658:Developmental Disabilities / Q000235:genetics / Q000503:physiopathology; D004062:DiGeorge Syndrome / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D014178:Translocation, Genetic