A paternal t(6;22)(q25.3;p12) leading to a deleted and satellited der(6) in a short‐lived infant
| Autor: | Rosa María Dávalos-Pulido, Horacio Rivera, M G Domínguez, Ingrid Patricia Dávalos-Rodríguez |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
Microbiology (medical) Offspring Clinical Biochemistry Chromosomal translocation Case Report satellited 6q Biology Male infertility 03 medical and health sciences 0302 clinical medicine Centromere medicine Immunology and Allergy chromosome 6 Genetics 6q deletion Biochemistry (medical) Public Health Environmental and Occupational Health Chromosome nucleolus organizer regions in 6q Karyotype Hematology Generalized hypertrichosis medicine.disease Medical Laboratory Technology 030104 developmental biology 030220 oncology & carcinogenesis Haploinsufficiency non‐acrocentric satellited chromosomes |
| Zdroj: | Journal of Clinical Laboratory Analysis |
| ISSN: | 1098-2825 0887-8013 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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