Ring chromosome 9 syndrome

Ring chromosome 9 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including developmental delay, some degree of intellectual disability, facial dysmorphism, microcephaly, congenital heart anomalies, and variable genital, limb and skeletal anomalies.

Short neck

Diminished length of the neck.


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PMID (PMCID)
24551976
 MALE Infant, Newborn
Ring chromosome 9 in a newborn.
Aldemir O, Celik IH, Karaer K, Ceylaner G.
Genet Couns. 2013;24(4):357-60.
We examined in a newborn patient with trigonocephaly, upward-slanting palpebral fissures, small face, micrognathia, high arched palate, low set ears, hypertrichosis and broad eyebrows, short neck and we diagnosed this patient as ring chromosome 9 by chromosomal analysis.