PMID- 15017469
OWN - NLM
STAT- MEDLINE
DCOM- 20040603
LR  - 20041117
IS  - 0735-1631 (Print)
IS  - 0735-1631 (Linking)
VI  - 21
IP  - 2
DP  - 2004 Feb
TI  - A dysmorphic newborn infant with a complex rearrangement involving chromosomes 2, 
      4, and 6 detected by fluorescence in situ hybridization (FISH).
PG  - 69-71
AB  - A newborn female infant with multiple congenital anomalies was found to have an 
      unusual and abnormal karyotype. Cytogenetic studies revealed an apparent balanced 
      translocation between chromosome 4q31.3 and chromosome 6q25.1. Additional 
      material on chromosome 2p was identified and determined to be from chromosome 6q 
      by analysis with fluorescence in situ hybridization (FISH). The karyotype is 
      46,XX,der(2)t(2;6)(p23;q25.1), t(4;6)(q31.3;q25.1). Her mother has a normal 
      female karyotype. The father was unavailable for physical examination or 
      cytogenetic analysis.
FAU - Hoffman, David J
AU  - Hoffman DJ
AD  - Section of Neonatal Medicine, MCP-Hahnemann School of Medicine and St. 
      Christopher's Hospital for Children, Philadelphia, Pennsylvania, USA.
FAU - Punnett, Hope H
AU  - Punnett HH
FAU - Pyeritz, Reed E
AU  - Pyeritz RE
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Am J Perinatol
JT  - American journal of perinatology
JID - 8405212
SB  - IM
MH  - Abnormalities, Multiple/diagnosis/genetics
MH  - *Chromosome Aberrations
MH  - Chromosomes, Human, Pair 2
MH  - Chromosomes, Human, Pair 4
MH  - Chromosomes, Human, Pair 6
MH  - Diagnosis, Differential
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant, Newborn
MH  - Translocation, Genetic
EDAT- 2004/03/17 05:00
MHDA- 2004/06/04 05:00
CRDT- 2004/03/17 05:00
PHST- 2004/03/17 05:00 [pubmed]
PHST- 2004/06/04 05:00 [medline]
PHST- 2004/03/17 05:00 [entrez]
AID - 10.1055/s-2004-820514 [doi]
PST - ppublish
SO  - Am J Perinatol. 2004 Feb;21(2):69-71. doi: 10.1055/s-2004-820514.