Incidenţa anomaliilor cromosomice la nou-născuţi

Trisomie autosomală

13 – sindrom Patau

18 – sindrom Edward

21 – sindrom Down

0,08‰

0,15‰

1,2‰

Global 1,4‰

Triploidie

0,02‰

Aneuploidii gonosomale la băieţi

47,XXY – sindrom Klinefelter

47,XYY – sindrom dublu Y

alte

1 ‰

1 ‰

0,74‰

Global 2,75‰

Aneuploidii gonosomale la fete

monosomie X – sindrom Turner

47,XXX – sindrom triplo X

alte

0,3‰

1,1‰

0,37‰

Global 1,8‰

Anomalii cromosomice structurale neechilibrate

0,7‰

Anomalii cromosomice neechilibrate (numerice şi structurale)

4‰ (1/250)

Anomalii cromosomice structurale echilibrate

Translocaţii reciproce

Translocaţii Robertsoniene

Inversii

2,5‰

1‰

0,8‰

Global 4,3‰

                                                                                                          Total

8,3‰ (1/120)

Prof.dr. Eusebiu Vlad Gorduza