Partial DiGeorge syndrome in two patients with a 10p rearrangement
1999; Wiley; Volume: 55; Issue: 4 Linguagem: Inglês
10.1034/j.1399-0004.1999.550410.x
ISSN1399-0004
AutoresHilde Van Esch, Peter Groenen, Sarah Daw, Ann Poffyn, Maureen Holvoet, Peter Scambler, Jean‐Pierre Fryns, Wim Van de Ven, Koenraad Devriendt,
Tópico(s)Renal and related cancers
ResumoWe 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.
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