SUMMARY
This article describes a rare clinical case in which intrauterine growth retardation detected during prenatal ultrasound examination manifested after birth as severe psychomotor delay, craniofacial dysmorphic features, and neuropsychiatric abnormalities. The case highlights the necessity of medical-genetic counseling at both antenatal and postnatal stages. In Azerbaijan, the fetocide procedure is not practiced; therefore, even when severe malformations are detected during prenatal examination, pregnancy is terminated by induced delivery while the fetus remains viable. The examined patient was born at 28 weeks of gestation with a birth weight of 1100 g; since the neonatal period, craniofacial dysmorphism, muscle hypotonia, and patent foramen ovale were observed. At four years of age, the child is unable to sit, speak, or make eye contact, with profound intellectual disability. Copy Number Variation analysis revealed two chromosomal abnormalities — del 5p15.1 (“Cri-du-chat” syndrome) and dup 14q32.12–qter. This observation reflects the complex clinical manifestation of prenatal developmental impairment combined with dual chromosomal abnormality.
Keywords: psychomotor disorders, Whole Exome Sequencing, Copy Number Variation, Cri du chat syndrome, chromosomal abnormalities, fetocid

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