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Chromosome 22q11 deletion presenting as the Potter sequence
K Devriendt1, P Moerman, D Van Schoubroeck
1Centre for Human Genetics, University Hospital Leuven, Belgium.
Journal of Medical Genetics
|May 1, 1997
Summary
A fetus with Potter sequence and Müllerian agenesis had a 22q11 deletion. This genetic finding, inherited from a father with velocardiofacial syndrome, expands the known clinical spectrum of this deletion.
Area of Science:
- Genetics
- Developmental Biology
- Pediatric Pathology
Background:
- Potter sequence is a condition characterized by specific fetal abnormalities, often linked to urinary tract issues.
- Chromosome 22q11 deletion is associated with a range of congenital anomalies, including velocardiofacial syndrome.
- Müllerian agenesis (Von Mayer-Rokitansky-Küster anomaly) involves the absence of the uterus and fallopian tubes.