TRISOMY 21, CHOLELITHIASIS AND POSITIVE SWEAT TEST AT INFANT-DIAGNOSTIC DIFICULTY

L Pop, I Popa, Popa Zagorca, Ciuca Ioana, Nicolicea Cerasella, Lacatusu, Gug Cristina, Tamas
JURNALUL PEDIATRULUI-Year XII   unpublished
A 5 month old female infant was admitted to hospital for evaluation of a particular phenotype. The particular phenotype was assimilated to a Langdon-Down syndrome The kariotype has confirmed a structural chromosomal abnormality of robertsonian translocation type between acrocentric chromosomes 21 and 22, and a numerical chromosomal abnormality consistent with a total trisomy 21 type, the cytopenic formula being: 46, XX,-22, +21, trob (21;22). The echocardiography, revealed a common
more » ... common atrioventricular canal in its complete form. An abdominal ultrasonographic scan was also performing, showing the gallbladder, which exhibited three hyper echoic image. The sweat test was positive. The genetic test for cystic fibrosis was negative. The conclusion is, if it is about comorbidity trisomy 21 and cystic fibrosis, or sweat test could be fals positive in trisomy 21.
fatcat:bfwhsvxbergu7bjdv3vqgrct2y