PMID- 22730277
OWN - NLM
STAT- MEDLINE
DCOM- 20130709
LR  - 20151119
IS  - 1542-0760 (Electronic)
IS  - 1542-0752 (Linking)
VI  - 94
IP  - 7
DP  - 2012 Jul
TI  - An unusual case of Cat-Eye syndrome phenotype and extragonadal mature teratoma: 
      review of the literature.
PG  - 561-6
LID - 10.1002/bdra.23038 [doi]
AB  - BACKGROUND Cat-Eye syndrome (CES) with teratoma has not been previously reported. 
      We present the clinical and molecular findings of a 9-month-old girl with 
      features of CES and also a palpable midline neck mass proved to be an 
      extragonadal mature teratoma, additionally characterized by array comparative 
      genomic hybridization (aCGH). RESULTS High resolution oligonucleotide-based aCGH 
      confirmed that the supernumerary marker chromosome (SMC) derived from chromosome 
      22, as was indicated by molecular cytogenetic analysis with fluorescence in situ 
      hybridization (FISH). Additionally, aCGH clarified the size, breakpoints, and 
      gene content of the duplication (dup 22q11.1q11.21; size:1.6 Mb; breakpoints: 
      15,438,946-17,041,773; hg18). The teratoma tissue was also tested with aCGH, in 
      which the CES duplication was not found, but the analysis revealed three 
      aberrations: del Xp22.3 (108,864-2788,689; 2.7 Mb hg18), dup Yp11.2 
      (6688,491-7340,982; 0.65 Mb, hg18), and dup Yq11.2q11.23 (12,570,853-27,177,133; 
      14.61 Mb, hg18). These results indicated 46 XY (male) karyotype of the teratoma 
      tissue, making this the second report of mature extragonadal teratoma in a female 
      neonate, probably deriving from an included dizygotic twin of opposite sex (fetus 
      in fetu). CONCLUSIONS Our findings extend the phenotypic spectrum of CES 
      syndrome, a disorder with clinical variability, pointing out specific 
      dosage-sensitive genes that might contribute to specific phenotypic features.
CI  - Copyright (c) 2012 Wiley Periodicals, Inc.
FAU - Tzetis, Maria
AU  - Tzetis M
AD  - Department of Medical Genetics, Medical School, University of Athens, Greece.
FAU - Stefanaki, Kalliopi
AU  - Stefanaki K
FAU - Syrmou, Areti
AU  - Syrmou A
FAU - Kosma, Konstantina
AU  - Kosma K
FAU - Leze, Eleni
AU  - Leze E
FAU - Giannikou, Krinio
AU  - Giannikou K
FAU - Oikonomakis, Vasilis
AU  - Oikonomakis V
FAU - Sofocleous, Christalena
AU  - Sofocleous C
FAU - Choulakis, Michael
AU  - Choulakis M
FAU - Kolialexi, Aggeliki
AU  - Kolialexi A
FAU - Makrythanasis, Periklis
AU  - Makrythanasis P
FAU - Kitsiou-Tzeli, Sophia
AU  - Kitsiou-Tzeli S
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20120622
PL  - United States
TA  - Birth Defects Res A Clin Mol Teratol
JT  - Birth defects research. Part A, Clinical and molecular teratology
JID - 101155107
RN  - Schmid-Fraccaro syndrome
SB  - IM
MH  - Aneuploidy
MH  - Chromosome Disorders/complications/*genetics
MH  - Chromosomes, Human, Pair 22/genetics
MH  - Comparative Genomic Hybridization
MH  - Eye Abnormalities
MH  - Female
MH  - Head and Neck Neoplasms/complications/*genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Karyotyping
MH  - Phenotype
MH  - Teratoma/complications/*genetics
EDAT- 2012/06/26 06:00
MHDA- 2013/07/10 06:00
CRDT- 2012/06/26 06:00
PHST- 2012/03/28 00:00 [received]
PHST- 2012/04/30 00:00 [revised]
PHST- 2012/05/01 00:00 [accepted]
PHST- 2012/06/26 06:00 [entrez]
PHST- 2012/06/26 06:00 [pubmed]
PHST- 2013/07/10 06:00 [medline]
AID - 10.1002/bdra.23038 [doi]
PST - ppublish
SO  - Birth Defects Res A Clin Mol Teratol. 2012 Jul;94(7):561-6. doi: 
      10.1002/bdra.23038. Epub 2012 Jun 22.