Beschreibung:
<jats:title>Abstract</jats:title><jats:sec><jats:title>Background</jats:title><jats:p>Non‐acrocentric satellited chromosomes mostly result from familial balanced insertions or translocations with p12 or p13 of any acrocentric. Although all non‐acrocentrics have been involved, only 12 instances of chromosome 6 involvement are known.</jats:p></jats:sec><jats:sec><jats:title>Case presentation</jats:title><jats:p>A female infant exhibited clinical features typical of 6qter deletions and also generalized hypertrichosis and synophrys, traits seldom reported in patients with similar imbalances or haploinsufficiency of <jats:italic>ARID1B</jats:italic> located in 6q25.3. She had a paternal derivative satellited 6q of a t(6;22)(q25.3;p12)pat entailing a 6q terminal deletion, karyotype 46,XX,der(6)t(6;22)(q25.3;p12)pat [16].ish del 6q subtel–.</jats:p></jats:sec><jats:sec><jats:title>Conclusion</jats:title><jats:p>Male and female carriers of reciprocal translocations or insertions between chromosome 6 and the short arm of any acrocentric have few unbalanced offspring mostly by adjacent‐1 segregation. In addition, spontaneous abortions or male infertility was present in 7/13 instances of satellited chromosome 6.</jats:p></jats:sec>