Unbalanced 3;22 Translocation With 22q11 and 3p Deletion Syndrome

作者：Dundar Munis^*; Kiraz Aslihan; Tasdemir Sener; Akalin Hilal; Kurtoglu Selim; Hafo Filiz; Cine Naci; Savli Hakan

来源：American Journal of Medical Genetics, Part A, 2010, 152A(11): 2791-2795.

DOI：10.1002/ajmg.a.33249

• DiGeorge anomaly
• 22q11 deletion syndrome
• unbalanced chromosome rearrangement
• 3
• 22 translocation
• array CGH

This report describes a 25-day-old Turkish boy with unbalanced 3;22 translocation that includes the 22q11.2 deletion and 3p25 deletion syndrome. The karyotype was 45, XY,der(3)t(3;22)-(p25;q11),-22. Although no immunological dysfunction could be demonstrated, the boy presented some manifestations of DiGeorge anomaly (DGA), which has been associated with monosomy for the same region of chromosome 22, velocardiofacial syndrome (VCFS), and the 3p deletion syndrome. Clinical features include short stature, hypertelorism, low set ears, cleft lip with cleft palate, short neck, truncus arteriosus, micropenis, clubfoot, over riding toes on right foot, four digits on left foot and growth delay. In addition he had feeding difficulties, respiratory infections, and developmental delay. Fluorescence in situ hybridization (FISH) studies confirmed loss of the proximal DiGeorge chromosomal region (DGCR). Array CGH analysis showed the deletion sites on chromosomes 3 and 22. This report documents a rare chromosomal aberration that causes the 22q11 and 3p deletion syndrome simultaneously.

• 出版日期2010-11