Combination chromosome abnormaliries in girl with malformations of the large intestine

The purpose of the clinical case was to describe combination chromosome abnormaliries in girl with malformations of the large intestine.
Girl A., 1, 9 year old was born prematurely. From birth, multiple stigmas of dysembriogenesis: poor weight gain, absence of an independent stool, marked delayed physical and psychomotor development attracted attention. During doppler echocardiography, a left-sided right- formed heart (chest), an open arterial duct, hemodynamically insignificant, with a diameter of about 1 mm is determined. In the second year of life, cholelithiasis was diagnosed (a single gallbladder concretion of 1.5 mm), erosive- hemorrhagic gastritis, subatrophic duodenoejunitis, an anomaly of the development of the large intestine (dolichosigma, dolichocolon) with hypomotor-type kolodiskinesia. During the examination, multiple stigmas of dysembriogenesis (oblique occiput, ocular hypotelorism, large, protruding auricles, strabismus, umbilical hernia), marked muscular hypotension, marked delayed physical and psychomotor development attract attention. Physical development: body length 70 cm, body weight 6650 g, teeth 8. SDS height –4.5, BMI 13.57 kg/m2, SDS –6.12. A molecular cytogenetic study revealed a normal female karyotype in proband’s mother, an abnormal karyotype 46, XX, der (21) t(4;21)(q31; q22) pat in proband’s mother, and a normal male karyotype with a balanced translocation 46, XX, t(4:21) in the patient’s father(q31: q22). The child has a chromosomal anomaly: partial trisomy of the q-arm of chromosome 4, as a result of translocation between chromosomes 4 and 21 of paternal inherited. Thus, the patient has an unbalanced karyotype, which causes a clinical features characterized by the marked delay in psychomotor and physical development, multiple stigmas of dysembriogenesis and malformations of the large intestine.

1. Gadzhikerimov G. E., Al- Zrer K. M. The main trends in the incidence of children from birth to 14 years in the Russian Federation. Russian Pediatric Journal. 2020; 23:(6): 396. (In Russ.)

2. Errichiello E., Novara F., Cremante A., et al. Dissection of partial 21q monosomy in different phenotypes: clinical and molecular characterization of five cases and review of the literature. Mol Cytogenet. 2016;9(1):21. doi: 10.1186/s13039-016-0230-3.

3. Guion-Almeida M.L., Richieri-Costa A., Jehee F. S., et al. Frontonasal dysplasia, callosal agenesis, basal encephalocele, and eye anomalies syndrome with a partial 21q22.3 deletion. Am J Med Genet A. 2012;158А(7):1676–1679. doi: 10.1002/ajmg.a.35351.

4. Tosca L., Brisset S., Petit F. M., et al. Recurrent 70.8 Mb 4q22.2q32.3 duplication due to ovarian germinal mosaicism. Eur J Hum Genet. 2010;18(8):882–888. doi: 10.1038/ejhg.2010.46.

5. Zhuang J., Zhang N., Fu W., et al. Cytogenetic and molecular analysis of distal 4q duplication with distinctive phenotype using single-nucleotide polymorphism array. Mol Cytogenet. 2021;14(1):46. doi: 10.1186/s13039-021-00568-9.