A Case of Partial Monosomy lOq Syndrome.
- Author:
Young Kyoun KIM
1
;
Yong Won PARK
;
Chong Guk LEE
;
Sang Woo KIM
Author Information
1. Department of Pediatrics, Inje University Seoul Paik Hospital, Seoul, Korea.
- Publication Type:Case Report
- Keywords:
Partial monosomy 10;
Terminal deletion;
Chromosome abnormality
- MeSH:
Arm;
Cardiomyopathy, Dilated;
Chromosome Aberrations;
Chromosome Deletion*;
Chromosomes, Human, Pair 10;
Ear;
Female;
Humans;
Hypothyroidism;
Infant, Newborn;
Karyotype;
Pregnancy;
Survival Rate
- From:Journal of the Korean Pediatric Society
1999;42(6):863-867
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
It has been estimated that chromosomal aberrations account for 2.3% to 3% of normal pregnancies and of them 85% are aborted. Therefore, the survival rate of neonates with chromosomal aberrations are very low. Patients with partial deletion of the long arm of chromosome 10 are rare. We experienced a case of partial monosomy 10 in a 14-years-old girl. She showed mental and growth retardation, low-set malformed ears, hyperterolism, hypothyroidism and dilated cardiomyopathy. Chromosomal analysis on G-banding with high resolution showed a terminal deletion of the long arm of chromosome 10. Her karyotype was designated as 46, XX, del (l0) (q26). A brief review of literature is also presented.
