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Tetrasomy 9p: confirmation by enzyme analysis

S J Moedjono, B F Crandall, R S Sparkes

Journal of Medical Genetics

|June 1, 1980

Summary

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RAPADILINO syndrome: a multiple malformation syndrome with radial and patellar aplasia.

Teratology·1999

Tetrasomy 9p, a rare chromosomal disorder, was diagnosed in a newborn with severe midline defects. Enzyme analysis confirmed the genetic abnormality, highlighting its impact on development.

Area of Science:

Genetics
Developmental Biology
Clinical Medicine

Background:

Congenital anomalies require precise etiological diagnosis.
Midline defects can indicate underlying genetic syndromes.

Observation:

A 4-day-old infant presented with significant midline skull and facial defects and skeletal malformations.
Cytogenetic analysis revealed tetrasomy 9p (47,XY, + i(9p)) without mosaicism.

Findings:

Tetrasomy 9p was confirmed through chromosomal analysis.
Elevated galactose-1-P uridyl transferase activity, localized to 9p, supported the cytogenetic findings.

Implications:

This case underscores the association between tetrasomy 9p and severe congenital malformations.

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Accurate genetic diagnosis is crucial for understanding developmental abnormalities and genetic counseling.