PMID- 20186810
OWN - NLM
STAT- MEDLINE
DCOM- 20100412
LR  - 20200930
IS  - 1552-4833 (Electronic)
IS  - 1552-4825 (Linking)
VI  - 152A
IP  - 3
DP  - 2010 Mar
TI  - Prenatal diagnosis of a recombinant chromosome 7 resulting in trisomy 7q11.22 --> 
      qter.
PG  - 721-5
LID - 10.1002/ajmg.a.33238 [doi]
AB  - Prenatal diagnosis of trisomy 7 is complex due to only a few reported cases. We 
      report here on a stillborn boy with very large duplication of 7q11.22 --> qter, 
      encompassing almost the entire long arm of chromosome 7. Ultrasound, fetal and 
      parental chromosome banding, fluorescence in situ hybridization (FISH), and array 
      comparative genomic hybridization (CGH) analyses were performed. Sonographic 
      findings included growth retardation, micrognathia, ventricular septal defect 
      (VSD), aortic coarctation, bradyarrhythmia, pericardial effusion, bilateral 
      hydronephrosis, infravesical obstruction, and cerebellar hypoplasia. Chromosome 
      analysis after cordocentesis at 23 weeks of gestation revealed an abnormal male 
      karyotype with 46 chromosomes and a derivative chromosome 7 with a very large 
      duplication of the long arm, 46,XY,der(7)(qter --> q11.2::p22 --> qter). The 
      mother was found to carry an apparently balanced pericentric inversion, 
      46,XX,inv(7)(p22q11.2). Thus, the recombinant chromosome 7 
      [rec(7)dup(7q)inv(7)(p22.3q11.22)mat] of the fetus must have arisen through 
      meiotic crossing-over between the inverted chromosome and the normal chromosome 7 
      in the maternal germline. FISH and array CGH results confirmed the recombinant 
      chromosome 7 in the fetus and indicated a loss of 1.9 Mb at chromosome 7pter --> 
      p22.3 (pter to 1,948,072 bp), and a gain of 87.04 Mb at chromosome 7q11.22 --> 
      qter (71,760,154 bp to qter). The rare syndrome of almost complete trisomy 7q may 
      be suspected in cases of growth retardation, cerebellar hypoplasia, micrognathia, 
      aortic coarctation and VSD and hydronephrosis. Invasive prenatal diagnosis must 
      be offered to the parents.
CI  - (c) 2010 Wiley-Liss, Inc.
FAU - Tchirikov, M
AU  - Tchirikov M
AD  - Department of Obstetrics and Fetal Medicine, University Medical Center Mainz, 
      Mainz, Germany. tchirikov@uni-mainz.de
FAU - Merinsky, A
AU  - Merinsky A
FAU - Strohner, M
AU  - Strohner M
FAU - Bonin, M
AU  - Bonin M
FAU - Beyer, V
AU  - Beyer V
FAU - Haaf, T
AU  - Haaf T
FAU - Bartsch, O
AU  - Bartsch O
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/diagnosis/*genetics
MH  - Chromosome Banding
MH  - Chromosome Inversion
MH  - Chromosomes, Human, Pair 7/*genetics
MH  - Comparative Genomic Hybridization
MH  - Female
MH  - Fetal Growth Retardation/genetics
MH  - Heart Defects, Congenital/genetics
MH  - Humans
MH  - Hydronephrosis/genetics
MH  - In Situ Hybridization, Fluorescence
MH  - Male
MH  - Micrognathism/genetics
MH  - Pregnancy
MH  - *Prenatal Diagnosis
MH  - Recombination, Genetic
MH  - Stillbirth/genetics
MH  - *Trisomy
MH  - Young Adult
EDAT- 2010/02/27 06:00
MHDA- 2010/04/13 06:00
CRDT- 2010/02/27 06:00
PHST- 2010/02/27 06:00 [entrez]
PHST- 2010/02/27 06:00 [pubmed]
PHST- 2010/04/13 06:00 [medline]
AID - 10.1002/ajmg.a.33238 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2010 Mar;152A(3):721-5. doi: 10.1002/ajmg.a.33238.