PMID- 17605151
OWN - NLM
STAT- MEDLINE
DCOM- 20080115
LR  - 20070903
IS  - 0197-3851 (Print)
IS  - 0197-3851 (Linking)
VI  - 27
IP  - 9
DP  - 2007 Sep
TI  - Distal partial trisomy 1q: report of two cases and a review of the literature.
PG  - 865-71
AB  - We report on two cases with partial trisomy 1q syndrome. One case was a 
      mid-trimester fetus with multiple malformations that was prenatally diagnosed 
      with a de novo distal partial trisomy 1q. Prenatal ultrasound at 24th gestational 
      week demonstrated the presence of cleft lip and palate, increased biparietal 
      diameter and decreased abdominal circumference. Cytogenetic analysis (GTG 
      banding) and subsequent fluorescence in situ hybridization (FISH) using whole 
      chromosome paint 1 and multicolor banding (MCB) demonstrated an aberrant 
      karyotype 46,XY,dup(1)(q31q43 approximately 44). The second case was a newborn 
      male infant with multiple congenital malformations. He had a derivative 
      chromosome 18 as a result of a maternal insertion involving chromosomes 1 and 18. 
      Further analyses including MCB showed his karyotype as 
      46,XY,ins(18;1)(q22;q23q31.1 approximately 32). The present cases and a review of 
      the literature suggest that partial trisomy of the long arm of chromosome 1 is a 
      distinct clinical entity.
CI  - 2007 John Wiley & Sons, Ltd
FAU - Utine, G E
AU  - Utine GE
FAU - Aktas, D
AU  - Aktas D
FAU - Alanay, Y
AU  - Alanay Y
FAU - Gucer, S
AU  - Gucer S
FAU - Tuncbilek, E
AU  - Tuncbilek E
FAU - Mrasek, K
AU  - Mrasek K
FAU - Liehr, T
AU  - Liehr T
LA  - eng
PT  - Case Reports
PT  - Letter
PT  - Review
PL  - England
TA  - Prenat Diagn
JT  - Prenatal diagnosis
JID - 8106540
SB  - IM
MH  - Abnormalities, Multiple/diagnosis/genetics
MH  - *Chromosomes, Human, Pair 1
MH  - Chromosomes, Human, Pair 18
MH  - Clonal Deletion
MH  - Cytogenetic Analysis
MH  - Female
MH  - Humans
MH  - Hypertelorism/genetics
MH  - Infant
MH  - Male
MH  - Pregnancy
MH  - Prenatal Diagnosis
MH  - Trisomy/*diagnosis/genetics
RF  - 28
EDAT- 2007/07/03 09:00
MHDA- 2008/01/16 09:00
CRDT- 2007/07/03 09:00
PHST- 2007/07/03 09:00 [pubmed]
PHST- 2008/01/16 09:00 [medline]
PHST- 2007/07/03 09:00 [entrez]
AID - 10.1002/pd.1788 [doi]
PST - ppublish
SO  - Prenat Diagn. 2007 Sep;27(9):865-71. doi: 10.1002/pd.1788.