PMID- 20949503
OWN - NLM
STAT- MEDLINE
DCOM- 20110204
LR  - 20200930
IS  - 1552-4833 (Electronic)
IS  - 1552-4825 (Linking)
VI  - 152A
IP  - 11
DP  - 2010 Nov
TI  - Unbalanced 3;22 translocation with 22q11 and 3p deletion syndrome.
PG  - 2791-5
LID - 10.1002/ajmg.a.33249 [doi]
AB  - This report describes a 25-day-old Turkish boy with unbalanced 3;22 translocation 
      that includes the 22q11.2 deletion and 3p25 deletion syndrome. The karyotype was 
      45, XY,der(3)t(3;22)(p25;q11),-22. Although no immunological dysfunction could be 
      demonstrated, the boy presented some manifestations of DiGeorge anomaly (DGA), 
      which has been associated with monosomy for the same region of chromosome 22, 
      velocardiofacial syndrome (VCFS), and the 3p deletion syndrome. Clinical features 
      include short stature, hypertelorism, low set ears, cleft lip with cleft palate, 
      short neck, truncus arteriosus, micropenis, clubfoot, over riding toes on right 
      foot, four digits on left foot and growth delay. In addition he had feeding 
      difficulties, respiratory infections, and developmental delay. Fluorescence in 
      situ hybridization (FISH) studies confirmed loss of the proximal DiGeorge 
      chromosomal region (DGCR). Array CGH analysis showed the deletion sites on 
      chromosomes 3 and 22. This report documents a rare chromosomal aberration that 
      causes the 22q11 and 3p deletion syndrome simultaneously.
CI  - (c) 2010 Wiley-Liss, Inc.
FAU - Dundar, Munis
AU  - Dundar M
AD  - Department of Medical Genetics, Erciyes University Medical Faculty, Kayseri, 
      Turkey. dundar@erciyes.edu.tr
FAU - Kiraz, Aslihan
AU  - Kiraz A
FAU - Tasdemir, Sener
AU  - Tasdemir S
FAU - Akalin, Hilal
AU  - Akalin H
FAU - Kurtoglu, Selim
AU  - Kurtoglu S
FAU - Hafo, Filiz
AU  - Hafo F
FAU - Cine, Naci
AU  - Cine N
FAU - Savli, Hakan
AU  - Savli H
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
SB  - IM
MH  - Abnormalities, Multiple/genetics
MH  - Adult
MH  - *Chromosome Deletion
MH  - Chromosomes, Human, Pair 22/*genetics
MH  - Chromosomes, Human, Pair 3/*genetics
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant, Newborn
MH  - Karyotyping
MH  - Male
MH  - Pregnancy
MH  - *Translocation, Genetic
MH  - Young Adult
EDAT- 2010/10/16 06:00
MHDA- 2011/02/05 06:00
CRDT- 2010/10/16 06:00
PHST- 2010/10/16 06:00 [entrez]
PHST- 2010/10/16 06:00 [pubmed]
PHST- 2011/02/05 06:00 [medline]
AID - 10.1002/ajmg.a.33249 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2010 Nov;152A(11):2791-5. doi: 10.1002/ajmg.a.33249.