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46,XX/47XX, + 14 mosaicism in a liveborn infant
Insights
This study details a liveborn infant with a rare chromosomal abnormality, XX, +14 mosaicism. The infant presented with features overlapping with trisomy 14 and atypical D trisomy cases.
Area of Science:
- Genetics
- Human Genetics
- Medical Genetics
Background:
- Mosaic trisomy, characterized by the presence of an extra chromosome in some cells, can lead to a spectrum of developmental outcomes.
- Chromosome 14 abnormalities, including partial or full trisomy, are associated with distinct phenotypic features.
- Atypical D trisomy cases present diagnostic challenges due to variable expressivity and overlapping features.
Observation:
- A liveborn infant with 46,XX/47,XX,+14 mosaicism was identified.
- The infant exhibited a constellation of dysmorphic features and developmental anomalies.
- These features were compared to previously reported cases of trisomy 14 and atypical D trisomy.
Findings:
- The infant shared common features with trisomy 14 and atypical D trisomy cases.
- Key features included developmental retardation, specific facial dysmorphia (wide flat nose, large mouth), short neck, low-set ears, retrognathia, digital anomalies, palatal anomalies, and cryptorchidism.
- The findings suggest a potential link between XX, +14 mosaicism and the observed phenotype.
Implications:
- This case contributes to the understanding of phenotypic variability in chromosome 14 abnormalities.
- It highlights the importance of cytogenetic analysis in diagnosing complex congenital anomalies.
- Further research is needed to delineate the full spectrum of features associated with XX, +14 mosaicism.
Abstract:
A liveborn infant with the complement 46,XX/47,XX, + 14 shared certain features in common with the following previously reported cases: (1) the one previously reported possible case of trisomy 14, (2) cases in which individuals had at least some portion of chromosome No. 14 in triplicate, and (3) cases of atypical D trisomy (Snodgrass category II). The common features include developmental retardation, wide flat nose with bulbous or wide tip, large mouth with turned down corners (some with protruding lips), short neck (some with redundant skin folds), low-set ears, retrognathia, digital anomalies (usually contractions and deviations), palatal anomalies, and cryptorchidism.