• Rare syndromes: a clinical case of «cat’s cry» syndrome 

Rare syndromes: a clinical case of «cat’s cry» syndrome 

PERINATOLOGIYA I PEDIATRIYA. 2016.2(66):94-96; doi 10.15574/PP.2016.66.94 
 

Rare syndromes: a clinical case of «cat's cry» syndrome 
 

Tyazhkaia A. V., Gorobets N. I., Pochinok T. V., Gorobets A. A., Gorobets N. M., Gavrylyshyn U. V., Reznikov Yu. P.

A.A. Bogomolets National Medical University, Kyiv, Ukraine 
 

In the article was presented the clinical case of «cat's cry» syndrome as one of the rare and the most severe genetic disease that requires genetic testing at the stage of planning of pregnancy. In case of suspicion of any deviations during the ultrasound in the first trimester of pregnancy it is necessary to carry out invasive prenatal diagnosis (chorionic villus sampling, amniocentesis and cordocentesis). One of the modern and accurate methods of cytogenetic research is currently FISH-method (fluorescent in situ hybridization). The advantage of this method is the ability to investigate not only metaphase chromosomes but also interphase nuclei. 
 

Key words: «cat's cry» syndrome, invasive prenatal diagnosis, FISH-method. 
 

REFERENCES

1. Bochkov NP. 2002. Clinical genetics. Moskow, Geotar-Med: 189—191.

2. Ginter EG. 2003. Medical genetics тика. Moskow, Meditsina: 195.

3. Grechanina OYa. 2007. Medical genetics. Kyiv, Meditsina: 321—325.

4. Zaporozhan VP. 2005. Medical genetics. Odessa: 83—84.

5. Berman RE, Kligman RM, Hol B Dzhekson. 2009. Nelson's pediatrics. Translation from english by professor Baranov AA. Moskow, Rid Elsiver. 1: 251—260.

6. Sorokman TV, Pishak VP, Lastivka IV 2006. Clinical genetics. Chernivtsi, Meduniversitet: 80.

7. Cerruti Mainardi P. 2006.Cri du Chat syndrome. Orphanet Journal of Rare Diseases. http://dx.doi.org/10.1186/1750-1172-1-33; PMid:16953888 PMCid:PMC1574300

8. Marinescu RC, Cerruti Mainardi P, Collins MR et al. 2000. Growth charts for cri-du-chat syndrome: an international collaborative study. Am J Med Genet. http://dx.doi.org/10.1002/1096-8628(20000911)94:2<153::AID-AJMG8>3.0.CO;2-#

9. Cerruti Mainardi P, Pastore G, Castronovo C et al. 2006.The natural history of Cri du Chat Syndrome. A report from the Italian Register. Eur J Med Genet.