Unbalanced 15;22 translocation in a patient with manifestations of DiGeorge and velocardiofacial syndrome

Marisela Jaquez, Deborah A. Driscoll, Mengrong Li, Beverly S. Emanuel, Isabel Hernandez, Fransisca Jaquez, Nicolas Lembert, Joanny Ramirez, Reuben Matalon

Research output: Contribution to journalArticle

18 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)6-10
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume70
Issue number1
DOIs
StatePublished - May 2 1997
Externally publishedYes

Keywords

  • 15;22 translocation
  • Di-George chromosomal region
  • DiGeorge syndrome
  • fluorescence in situ hybridization
  • velocardiofacial syndrome

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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