title: Unbalanced 15;22 translocation in a patient with manifestations of DiGeorge and velocardiofacial syndrome.
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.
authors.affiliation: Research Institute, Miami Children's Hospital, Florida, USA.
authors.forename: M
authors.initials: M
authors.lastname: Jaquez
authors.forename: D A
authors.initials: DA
authors.lastname: Driscoll
authors.forename: M
authors.initials: M
authors.lastname: Li
authors.forename: B S
authors.initials: BS
authors.lastname: Emanuel
authors.forename: I
authors.initials: I
authors.lastname: Hernandez
authors.forename: F
authors.initials: F
authors.lastname: Jaquez
authors.forename: N
authors.initials: N
authors.lastname: Lembert
authors.forename: J
authors.initials: J
authors.lastname: Ramirez
authors.forename: R
authors.initials: R
authors.lastname: Matalon
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D002884:Chromosomes, Human, Pair 15; D002892:Chromosomes, Human, Pair 22; D019465:Craniofacial Abnormalities / Q000150:complications / Q000235:genetics; D004062:DiGeorge Syndrome / Q000150:complications / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D013577:Syndrome; D014178:Translocation, Genetic