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Partial duplication 14q/deletion 2q in two sibs due to t(2;14) (q37.1;q31.2) pat
A A de la Fuente1, K B Gerssen-Schoorl, A S Breed
1Streeklaboratorium, Dept. Pathology, Enschede, The Netherlands.
Insights
This study details a rare genetic condition, duplication 14q/deletion 2q, in siblings resulting from a paternal translocation. Both siblings presented with similar, severe phenotypes, highlighting the syndrome
Area of Science:
- Human Genetics
- Clinical Genetics
- Reproductive Genetics
Background:
- Describes a rare chromosomal abnormality: duplication 14q/deletion 2q.
- This condition arises from a paternal translocation t(2;14)(q37.1;q31.2).
Observation:
- Presents two siblings with this translocation, one male infant and one female fetus.
- Both siblings exhibited nearly identical, severe phenotypes.
- The anomaly was detected in the female fetus via amniocentesis.
Findings:
- Identical phenotypes in siblings suggest strong genotype-phenotype correlation.
- Key features include asymmetric head shape, low-set ears, micrognathia, and limb abnormalities.
- Other observed anomalies include rib defects, camptodactyly, long fingers, and contractures.
Implications:
- Contributes to understanding the clinical spectrum of 14q duplication/2q deletion syndrome.
- Highlights the importance of genetic counseling for carriers of balanced translocations.
- Informs prenatal diagnosis and management strategies for this rare chromosomal disorder.
Abstract:
Two siblings are described with duplication 14q/deletion 2q due to a paternal translocation (2;14) (q37.1;q31.2). The first one, a boy, born at term, lived 14 days. The second one, a female foetus, was born after induced labour when the anomaly was discovered by way of amniocentesis. They both had almost identical phenotypes. From a study of the literature it is inferred that a typical asymmetric head form, low set abnormal ears, micrognathia, long upper lip, rib anomalies, camptodactyly, long fingers and contractures are prominent features of the syndrome.