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FISH for Pre-implantation Genetic Diagnosis

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Published on: February 23, 2011

Ring chromosome 9 in a newborn.

O Aldemir¹, I H Celik², K Karaer³

¹Mersin Maternity and Children Hospital Medical Genetic, Mersin, Turkey. o_aldemir@hotmail.com

Genetic Counseling (Geneva, Switzerland)

|February 21, 2014

Summary

Ring chromosome 9 is a rare genetic disorder with variable symptoms. This study details a newborn diagnosed with r(9) and compares findings to existing literature.

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Area of Science:

Genetics
Pediatrics
Clinical Genetics

Background:

Ring chromosome 9 (r(9)) is a rare chromosomal abnormality.
It presents with a variable phenotype, often with less distinct clinical features.

Observation:

A newborn presented with trigonocephaly, upward-slanting palpebral fissures, small face, micrognathia, high arched palate, low set ears, hypertrichosis, broad eyebrows, and a short neck.
Chromosomal analysis confirmed the diagnosis of ring chromosome 9.

Findings:

The observed clinical features in this newborn case of r(9) were documented.
Comparison with previously reported cases in the literature was performed to understand the spectrum of r(9) phenotypes.

Implications:

This case contributes to the understanding of the clinical presentation of ring chromosome 9.
Further case studies and literature comparisons are essential for characterizing r(9) phenotypes and improving diagnosis.