PMID- 9129733
OWN - NLM
STAT- MEDLINE
DCOM- 19970626
LR  - 20190905
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 70
IP  - 1
DP  - 1997 May 2
TI  - Unbalanced 15;22 translocation in a patient with manifestations of DiGeorge and 
      velocardiofacial syndrome.
PG  - 6-10
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.
FAU - Jaquez, M
AU  - Jaquez M
AD  - Research Institute, Miami Children's Hospital, Florida, USA.
FAU - Driscoll, D A
AU  - Driscoll DA
FAU - Li, M
AU  - Li M
FAU - Emanuel, B S
AU  - Emanuel BS
FAU - Hernandez, I
AU  - Hernandez I
FAU - Jaquez, F
AU  - Jaquez F
FAU - Lembert, N
AU  - Lembert N
FAU - Ramirez, J
AU  - Ramirez J
FAU - Matalon, R
AU  - Matalon R
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
SB  - IM
MH  - Abnormalities, Multiple/*genetics
MH  - Child
MH  - *Chromosomes, Human, Pair 15
MH  - *Chromosomes, Human, Pair 22
MH  - Craniofacial Abnormalities/complications/genetics
MH  - DiGeorge Syndrome/complications/*genetics
MH  - Female
MH  - *Gene Deletion
MH  - Heart Defects, Congenital/genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Syndrome
MH  - *Translocation, Genetic
EDAT- 1997/05/02 00:00
MHDA- 2000/06/20 09:00
CRDT- 1997/05/02 00:00
PHST- 1997/05/02 00:00 [pubmed]
PHST- 2000/06/20 09:00 [medline]
PHST- 1997/05/02 00:00 [entrez]
AID - 10.1002/(SICI)1096-8628(19970502)70:1<6::AID-AJMG2>3.0.CO;2-Z [pii]
AID - 10.1002/(sici)1096-8628(19970502)70:1<6::aid-ajmg2>3.0.co;2-z [doi]
PST - ppublish
SO  - Am J Med Genet. 1997 May 2;70(1):6-10. doi: 
      10.1002/(sici)1096-8628(19970502)70:1<6::aid-ajmg2>3.0.co;2-z.