De novo unbalanced translocation t(15;22)(q26.2;q12) with velo‑cardio‑facial syndrome: A case report and review of the literature

Abstract

The present study reports the case of a 3-h old male with a de novo unbalanced t(15;22) translocation and velo-cardio-facial syndrome (VCFS), with other abnormalities. The manifestations of the condition observed in the patient included cleft palate with feeding difficulties, respiratory infection, dysmorphic face with almond-shaped eyes, a long and wide nose, small and low-set ears, tetralogy of Fallot, cryptorchidism and varus equinus. Standard lymphocyte cytogenetic analysis using G-banding demonstrated a 45,XY,-22,der (15),t(15;22)(q26.2;q12) karyotype. Fluorescent in situ hybridization with DiGeorge/VCFS TUPLE 1 confirmed 22q11 deletions. These cytogenetic aspects appear to be rare in the etiology of VCFS, as >1% of all 22q11 deletions are the result of an unbalanced translocation, which involves chromosomes 22 and another chromosome. To the best of our knowledge, this is the second reported case where the clinical features associated with VCFS are combined with an unbalanced (15;22) translocation involving the critical 22q11.2 region.

De novo 8p21.3→ p23.3 Duplication With t(4;8)(q35;p21.3) Translocation Associated With Mental Retardation, Autism Spectrum Disorder, and Congenital Heart Defects: Case Report With Literature Review

“…The phenotype of inverted duplications 8p is distinct from and much more severe than the clinical effect of partial trisomy 8p due to direct duplications known so far ( 6 ). Genetic counseling must consider that gonadal mosaicism cannot be excluded ( 37 , 38 ). For this reason, prenatal diagnosis was performed in subsequent pregnancies ( 39 – 41 ).…”

A Case of Inherited t(4;10)(q26;q26.2) Chromosomal Translocation Elucidated by Multiple Chromosomal and Molecular Analyses. Case Report and Review of the Literature

“…However, the practical risk is only around 5% because viable unbalanced embryos can result from an adjacent-1 segregation of maternal derivative chromosomes and the embryos carrying the association between 4q trisomy and 10q monosomy. The embryos with an association between 10q trisomy and 4q monosomy (generated by an adiacent-1 segregation) and those that result from an adjacent-2 segregation of maternal derivative chromosomes are unviable [ 85 , 86 , 87 , 88 ].…”

CHARGE syndrome associated with de novo (I1460Rfs*15) frameshift mutation of CHD7 gene in a patient with arteria lusoria and horseshoe kidney

“…It was hypothesized that one parent had germinal mosaicism (8). Considering this possibility, prenatal diagnosis should be recommended for each future pregnancy (31,32). De novo mutations are more frequent than inherited mutations and the majority are frameshift mutations (33)(34)(35).…”