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

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.

Copy number analysis of 413 isolated talipes equinovarus patients suggests role for transcriptional regulators of early limb development

“…Although skeletal anomalies are not a defining feature of DiGeorge syndrome, rare cases of lower limb defects including talipes equinovarus have been described in chromosome 22q11 deletions. [45][46][47] Finally, we detected two individuals with Klinefelter's syndrome (XXY) who were not previously known to have this disorder. Like the other individuals in this study, these individuals presented with isolated talipes equinovarus, and are cognitively and physically normal at 45 years follow-up.…”

Phenotypic variability of atypical 22q11.2 deletions not includingTBX1

“…A limited number of patients with atypical deletions (Fig. 1) or translocations have been described [Kurahashi et al, 1996;Jaquez et al, 1997;Garcia-Minaur et al, 2002;Rauch et al, 2005;D'Angelo et al, 2007;Fernandez et al, 2009;McGoey and Lacassie, 2009;Dundar et al, 2010;Yu et al, 2011].…”

Distal 3p Duplication and 22q13.3 Deletion with Severe Hypotonia Originating from a Paternal Balanced Translocation (3;22)

“…Two more studies reported patients with chromosomal abnormalities involving the short arm of chromosome 3 at 3p25 and the long arm of chromosome 22 at 22q11. Respectively, Dundar et al [2010] reported a patient with developmental delay and a de novo karyotype, 45,X,der(3) t(3; 22)(p25;q11),-22, while Faed et al [1987] described a child with de novo monosomy for chromosomes 22 22q11.2 deletion syndrome (also known as DiGeorge syndrome) is one of the most common microdeletion syndromes in the community. Its prevalence is known as 1/4,000, but with new studies, it is stated that the 22q11.2 deletion is more common than estimated [Grati et al, 2015].…”