Open AccessA paternal t(6;22)(q25.3;p12) leading to a deleted and satellited der(6) in a short‐lived infant
Author(s) -
Domínguez María Guadalupe,
Rivera Horacio,
DávalosPulido Rosa María,
DávalosRodríguez Ingrid Patricia
Publication year - 2020
Publication title -
journal of clinical laboratory analysis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.536
H-Index - 50
eISSN - 1098-2825
pISSN - 0887-8013
DOI - 10.1002/jcla.23355
Subject(s) - chromosomal translocation , genetics , centromere , offspring , biology , haploinsufficiency , chromosome , karyotype , pregnancy , gene , phenotype
Abstract Background 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. Case presentation 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 ARID1B 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–. Conclusion 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.