1. Unbalanced 15;22 translocation in a patient with manifestations of DiGeorge and velocardiofacial syndrome
- Author
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Isabel Hernandez, Beverly S. Emanuel, Mengrong Li, Reuben Matalon, Joanny Ramirez, Deborah A. Driscoll, Fransisca Jaquez, Marisela Jaquez, and Nicolas Lembert
- Subjects
Heart Defects, Congenital ,Chromosomes, Human, Pair 22 ,Chromosomal translocation ,Scoliosis ,Biology ,Short stature ,Translocation, Genetic ,Craniofacial Abnormalities ,DiGeorge syndrome ,medicine ,DiGeorge Syndrome ,Humans ,Abnormalities, Multiple ,Hypertelorism ,Child ,Genetics (clinical) ,In Situ Hybridization, Fluorescence ,Chromosomes, Human, Pair 15 ,medicine.diagnostic_test ,Microstomia ,Anatomy ,Syndrome ,medicine.disease ,Karyotyping ,Chromosomal region ,Female ,medicine.symptom ,Gene Deletion ,Fluorescence in situ hybridization - Abstract
We report on an 8-year-old girl with an unbalanced 15;22 translocation and manifestations of DiGeorge syndrome (DGS), velocardiofacial syndrome (VCFS), and other abnormalities. The main manifestations of our patient were feeding difficulties, respiratory infections, short stature, peculiar face with hypertelorism, prominent nose, abnormal ears, microstomia and crowded teeth, short broad neck and shield chest with pectus deformity and widely spaced nipples with abnormal fat distribution, heart defect, scoliosis, asymmetric limb development, abnormal hands and feet, and hyperchromic skin patches. Cytogenetic studies demonstrated a 45,XX,der(15)t(15;22)(p11.2;q11.2), -22 karyotype. Fluorescence in situ hybridization (FISH) studies confirmed loss of the proximal DiGeorge chromosomal region (DGCR). This case adds to the diversity of clinical abnormalities caused by deletions within 22q11.2. Am. J. Med. Genet. 70:6–10, 1997. © 1997 Wiley-Liss, Inc.
- Published
- 1997