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Ring chromosome 21 transmitted from mother to daughter: its stability in a lymphoblastoid cell line
T Ikeuchi1, K Yamamoto, F Qiao
1Department of Genetics, Tokyo Medical and Dental University, Japan.
Insights
A ring chromosome 21 (r(21)) was identified in a female infant with distinct features, inherited from her healthy mother. This ring chromosome 21 remained stable in cell cultures, indicating its consistent genetic behavior.
Area of Science:
- Genetics
- Cytogenetics
- Human Genetics
Background:
- Ring chromosome 21 (r(21)) is a rare chromosomal abnormality.
- Understanding the stability and behavior of ring chromosomes is crucial for genetic counseling and diagnosis.
Observation:
- A female infant presented with a high-pitched cry and hypertelorism, carrying a karyotype of 46,XX,r(21)(p11.2q22.3).
- The r(21) was inherited from her phenotypically normal mother.
- The r(21) exhibited stable structure and behavior in peripheral lymphocyte cultures for both mother and infant.
Findings:
- The stability of the r(21) was further confirmed in a lymphoblastoid cell line derived from the proband.
- The normal-sized r(21) persisted in most cells during prolonged culture (over 5 months).
Implications:
- This case highlights the potential for phenotypically normal carriers of ring chromosomes.
- The stability of this specific r(21) suggests predictable behavior in cellular environments.
- Further research into ring chromosome stability can inform genetic diagnostics and risk assessment for families.
Abstract:
A female infant with a high-pitched cry and hypertelorism but an otherwise normal facies was found to have the karyotype 46,XX,r(21)(p11.2q22.3). The r(21) was transmitted from the phenotypically normal mother. In both cases, the structure and behavior of the r(21) were rather stable in peripheral lymphocyte cultures. This stable nature of the r(21) was also confirmed in a lymphoblastoid cell line derived from the proband, where the normal-sized r(21) was persistent in most cells in prolonged culture for at least 5 months.