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During meiosis, chromosomes occasionally separate improperly. This occurs due to failure of homologous chromosome separation during meiosis I or failed sister chromatid separation during meiosis II. In some species, notably plants, nondisjunction can result in an organism with an entire additional set of chromosomes, which is called polyploidy. In humans, nondisjunction can occur during male or female gametogenesis and the resulting gametes possess one too many or one too few chromosomes.

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During meiosis, chromosomes occasionally separate improperly. This occurs due to failure of homologous chromosome separation during meiosis I or failed sister chromatid separation during meiosis II. In some species, notably plants, nondisjunction can result in an organism with an entire additional set of chromosomes, which is called polyploidy. In humans, nondisjunction can occur during male or female gametogenesis and the resulting gametes possess one too many or one too few chromosomes.

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Frontonasal dysostosis in two successive generations.

N C Nevin¹, A G Leonard, B Jones

¹Regional Genetics Service, Belfast City Hospital Trust, Belfast, Northern Ireland. nc.nevin@bch.n-i.nhs.uk

American Journal of Medical Genetics

|November 24, 1999

Summary

This summary is machine-generated.

Frontonasal dysostosis, a rare genetic disorder, presents with facial abnormalities. Familial cases suggest dominant inheritance patterns, highlighting the need for early diagnosis in families.

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Area of Science:

Genetics
Developmental Biology
Pediatrics

Background:

Frontonasal dysostosis is a congenital condition characterized by specific craniofacial malformations.
While typically sporadic, familial occurrences of frontonasal dysostosis have been documented.

Observation:

A 2-year-old girl presented with anterior cranium bifidum occultum, corpus callosum lipoma, and hypertelorism.
Her mother exhibited a widow's peak and a history of cribriform plate defect causing nasal drip.

Findings:

The observed familial pattern in this case suggests potential autosomal dominant or X-linked dominant inheritance.
This case expands the phenotypic spectrum of frontonasal dysostosis.

Implications:

Early identification of mild frontonasal dysostosis expressions is crucial for accurate genetic counseling.
Understanding inheritance patterns aids in predicting recurrence risk and family planning.