PMID- 34321463
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20220113
IS  - 2054-345X (Print)
IS  - 2054-345X (Electronic)
IS  - 2054-345X (Linking)
VI  - 8
IP  - 1
DP  - 2021 Jul 28
TI  - The acrocentric part of der(Y)t(Y;acro)(q12;p1?2) contains D15Z1 sequences in the 
      majority of cases.
PG  - 32
LID - 10.1038/s41439-021-00163-9 [doi]
LID - 32
AB  - Chromosomal heteromorphisms (CHMs) are currently largely disregarded in human 
      genetic diagnostics. One exception is der(Y)t(Y;acro)(q12;p1?2), which has at 
      least been mentioned in karyotypes and discussed in reports. This derivative is 
      frequently observed in healthy males with idiopathic infertility, which is not 
      uncommon for CHMs. Here, we present the first systematic fluorescence in situ 
      hybridization (FISH)-based study of 7 carriers of der(Y)t(Y;acro)(q12;p1?2). 
      Specific probes for 15p11.2 (D15Z1) and 22p11.2 (D22Z4) were applied to answer 
      the question of whether either of the short arms may be involved in the formation 
      of the derivative Y-chromosome. In 6 out of 7 cases, specific staining was 
      achieved using the D15Z1 probe, while the derivative acrocentric chromosomal 
      region was not positive for D22Z4 in any of the 7 cases.In conclusion, this study 
      implies that the acrocentric chromosomal region is derived from chromosome 15 in 
      the majority of cases with der(Y)t(Y;acro)(q12;p1?2).
CI  - (c) 2021. The Author(s).
FAU - Fuchs, Sigrid
AU  - Fuchs S
AD  - Institute of Human Genetics, University Medical Center Hamburg, Hamburg, Germany.
FAU - Lisfeld, Jasmin
AU  - Lisfeld J
AD  - Institute of Human Genetics, University Medical Center Hamburg, Hamburg, Germany.
FAU - Kankel, Stefanie
AU  - Kankel S
AD  - Jena University Hospital, Friedrich Schiller University, Institute of Human 
      Genetics, Jena, Germany.
FAU - Person, Luisa
AU  - Person L
AD  - Jena University Hospital, Friedrich Schiller University, Institute of Human 
      Genetics, Jena, Germany.
FAU - Liehr, Thomas
AU  - Liehr T
AUID- ORCID: 0000-0003-1672-3054
AD  - Jena University Hospital, Friedrich Schiller University, Institute of Human 
      Genetics, Jena, Germany. Thomas.Liehr@med.uni-jena.de.
LA  - eng
PT  - Journal Article
DEP - 20210728
PL  - England
TA  - Hum Genome Var
JT  - Human genome variation
JID - 101652445
PMC - PMC8319415
COIS- The authors declare no competing interests.
EDAT- 2021/07/30 06:00
MHDA- 2021/07/30 06:01
PMCR- 2021/07/28
CRDT- 2021/07/29 06:01
PHST- 2021/03/26 00:00 [received]
PHST- 2021/06/29 00:00 [accepted]
PHST- 2021/05/31 00:00 [revised]
PHST- 2021/07/29 06:01 [entrez]
PHST- 2021/07/30 06:00 [pubmed]
PHST- 2021/07/30 06:01 [medline]
PHST- 2021/07/28 00:00 [pmc-release]
AID - 10.1038/s41439-021-00163-9 [pii]
AID - 163 [pii]
AID - 10.1038/s41439-021-00163-9 [doi]
PST - epublish
SO  - Hum Genome Var. 2021 Jul 28;8(1):32. doi: 10.1038/s41439-021-00163-9.