Korean J Pediatr.  2009 Feb;52(2):242-246. 10.3345/kjp.2009.52.2.242.

A case of mosaic ring chromosome 13 syndrome

• Kim SY
• Oh SM
• Kim MJ
• Song ES
• Kim YO
• Choi YY
• Woo YJ
• Hwang TJ

• KMID: 2281682
• DOI: http://doi.org/10.3345/kjp.2009.52.2.242

Abstract

The clinical features of ring chromosome 13 include mental and growth retardation, CNS anomalies, facial dysmorphism, cardiac defects, genital malformations, limb anomalies, skeletal deformities and anal malformations. Although many cases of ring chromosome 13 have been reported worldwide, only 6 cases have been reported in Korea, and the latter cases were not mosaic but pure ring chromosome 13. Here we report a case with mosaic ring chromosome 13. The baby boy was born at 37 weeks of gestation by induced vaginal delivery due to intrauterine growth restriction (IUGR). He was the second baby of a 28-year-old hepatitis B carrier mother and a 32-year-old father. There was no family history of chromosomal anomalies. The baby was a symmetric IUGR with a birth weight of 1,860 g, length of 44.8 cm, and head circumference of 29.4 cm. The physical examination revealed microcephaly, trigonocephaly, flat occiput, large ears, short neck and dysmorphic facial features, including microophthalmia, hypertelorism, antimongoloid slanting palpebral fissures, a flat nasal bridge, and micrognathia. The karyotype of this patient performed by peripheral blood lymphocytes was 46,XY,r(13)(p13q34)/45,XY,-13/46,XY,dic r(13;13)(p13q34;p13q34). The baby showed failure to thrive, hypotonia, and developmental delay. We report the first case of mosaic ring chromosome 13 in a male baby in Korea and compare this case with other Korean cases of non-mosaic ring chromosome 13.

Keyword

Mosaicism; Ring chromosome 13; Facial dysmorphism; Intrauterine growth restriction (IUGR)

MeSH Terms

Adult
Birth Weight
Chromosomes, Human, Pair 13
Congenital Abnormalities
Craniosynostoses
Ear
Extremities
Failure to Thrive
Fathers
Fetal Growth Retardation
Head
Hepatitis B
Humans
Hypertelorism
Karyotype
Korea
Lymphocytes
Male
Microcephaly
Mosaicism
Mothers
Muscle Hypotonia
Neck
Physical Examination
Pregnancy
Ring Chromosomes
Chromosomes, Human, Pair 13
Ring Chromosomes