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.

Micrognathia

Developmental hypoplasia of the mandible.


Total: 3

                       


(per page)
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.
10486077
 FEMALE Infant, Newborn
Ring chromosome 9 with a 9p22.3-p24.3 duplication.
Seghezzi L, Maraschio P, Bozzola M, Maserati E, Tupler R, Marchi A, Tiepolo L.
Eur J Pediatr. 1999;158(10):791-3.
A ring chromosome 9 containing an inverted 9p22.3-p24.3 duplication was found in a girl presenting with some of the phenotypic characteristics of ring 9 syndrome such as trigonocephaly, microcephaly, hypotelorism, micrognathia, single palmar crease, and bilateral clinodactyly.
10486077
 FEMALE Infant, Newborn
Ring chromosome 9 with a 9p22.3-p24.3 duplication.
Seghezzi L, Maraschio P, Bozzola M, Maserati E, Tupler R, Marchi A, Tiepolo L.
Eur J Pediatr. 1999;158(10):791-3.
A ring chromosome 9 containing an inverted 9p22.3-p24.3 duplication was found in a girl presenting with some of the phenotypic characteristics of ring 9 syndrome such as trigonocephaly, microcephaly, hypotelorism, micrognathia, single palmar crease, and bilateral clinodactyly.