TY - JOUR
T1 - Unbalanced 15;22 translocation in a patient with manifestations of DiGeorge and velocardiofacial syndrome
AU - Jaquez, Marisela
AU - Driscoll, Deborah A.
AU - Li, Mengrong
AU - Emanuel, Beverly S.
AU - Hernandez, Isabel
AU - Jaquez, Fransisca
AU - Lembert, Nicolas
AU - Ramirez, Joanny
AU - Matalon, Reuben
PY - 1997/5/2
Y1 - 1997/5/2
N2 - 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.
AB - 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.
KW - 15;22 translocation
KW - Di-George chromosomal region
KW - DiGeorge syndrome
KW - fluorescence in situ hybridization
KW - velocardiofacial syndrome
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U2 - 10.1002/(SICI)1096-8628(19970502)70:1<6::AID-AJMG2>3.0.CO;2-Z
DO - 10.1002/(SICI)1096-8628(19970502)70:1<6::AID-AJMG2>3.0.CO;2-Z
M3 - Article
C2 - 9129733
AN - SCOPUS:0030995925
SN - 0148-7299
VL - 70
SP - 6
EP - 10
JO - American Journal of Medical Genetics
JF - American Journal of Medical Genetics
IS - 1
ER -