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A malformed child with a recombinant chromosome 7, rec(7) dup p, derived from a maternal pericentric inversion
A Delicado1, E Escribano, I Lopez Pajares
1Sección de Genética Medica, Hospital de la SS La Paz, Madrid, Spain.
Insights
A child with multiple congenital anomalies, including facial dysmorphism and heart defects, was found to have partial trisomy 7p due to a maternal inversion. This genetic condition, partial trisomy 7p, impacts development.
Area of Science:
- Genetics
- Clinical Genetics
- Pediatric Genetics
Background:
- Genetic abnormalities can lead to a range of congenital anomalies.
- Maternal chromosomal rearrangements can result in offspring with unbalanced chromosomal complements.
Observation:
- A child presented with facial dysmorphic features, hypogonadism, intestinal malrotation, congenital heart defect, and limb anomalies.
- Karyotype analysis revealed a recombinant chromosome 7, rec(7) dup p, arising from a maternal pericentric inversion inv(7)(p15 q36).
Findings:
- The child exhibits partial trisomy 7p and distal monosomy 7.
- This chromosomal imbalance is associated with the observed complex phenotype.
Implications:
- Understanding the genotype-phenotype correlation in partial trisomy 7p is crucial for diagnosis.
- This case highlights the importance of parental karyotyping in cases of unexplained congenital anomalies.
- Genetic counseling principles are discussed for families with chromosomal rearrangements.
Abstract:
We report a child with facial dysmorphic features, hypoplasia of the external genitalia, intestinal malrotation, congenital cardiac defect, and minor limb anomalies. Chromosome studies showed a recombinant chromosome 7, rec(7) dup p, resulting from a maternal pericentric inversion inv(7)(p15 q36). Thus, this child had partial trisomy 7p in addition to a small distal monosomy 7. The clinical findings are compared with those found in previous reports of trisomy 7p. Finally, some general principles for genetic counselling are discussed.