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A partial long arm deletion of chromosome 7:46,XY,del(7)(q32)
Journal of Medical Genetics
|April 1, 1977
Insights
A partial deletion on chromosome 7 long arm was found in a newborn boy. This genetic anomaly was associated with multiple congenital anomalies, including microcephaly and limb malformations.
Area of Science:
- Genetics
- Developmental Biology
- Clinical Medicine
Background:
- Chromosome 7 deletions can lead to a range of developmental abnormalities.
- Understanding the specific genetic alterations is crucial for diagnosing and managing congenital conditions.
Observation:
- A male neonate presented with a constellation of major anomalies.
- Observed anomalies included microcephaly, syndactyly (synbrachydactyly), diastasis recti, hypospadias, a short neck, and widely spaced nipples.
Findings:
- Karyotyping revealed a partial deletion on the long arm of chromosome 7 (7q).
- This specific chromosomal aberration is linked to the observed phenotypic features.
Implications:
- This case highlights the importance of chromosomal analysis in neonates with multiple congenital anomalies.
- Further research into 7q deletions can refine genotype-phenotype correlations and inform genetic counseling.
Abstract:
We have identified a partial deletion of the long arm of chromosome 7 in a newborn baby boy. His major anomalies were microcephaly, synbrachydactyly, diastisis recti, hypospadias, short neck, and widely spaced nipples.