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Am J Med Genet A. 2010 Nov;152A(11):2791-5. doi: 10.1002/ajmg.a.33249.

Unbalanced 3;22 translocation with 22q11 and 3p deletion syndrome.

Author information

1
Department of Medical Genetics, Erciyes University Medical Faculty, Kayseri, Turkey. dundar@erciyes.edu.tr

Abstract

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.

PMID:
20949503
DOI:
10.1002/ajmg.a.33249
[Indexed for MEDLINE]

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