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