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.

Microcephaly

Head circumference below 2 standard deviations below the mean for age and gender.


Total: 3

                       


(per page)
PMID (PMCID)
17526969
 MALE Infant
Ring chromosome 9 in a dysmorphic child.
Sheth J, Joshi R, Sheth F.
Indian J Pediatr. 2007;74(5):507-8.
An eight-mth-old boy, presenting with broad and dark eyebrows with protruding tongue, microcephaly, short stature and failure to thrive was found to have ring chromosome 9.
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.