J Korean Pediatr Soc.  1999 Jun;42(6):863-867.

A Case of Partial Monosomy lOq Syndrome

• Kim YK
• Park YW
• Lee CG
• Kim SW

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.

Keyword

Partial monosomy 10; Terminal deletion; Chromosome abnormality

MeSH Terms

Arm
Cardiomyopathy, Dilated
Chromosome Aberrations
Chromosome Deletion*
Chromosomes, Human, Pair 10
Ear
Female
Humans
Hypothyroidism
Infant, Newborn
Karyotype
Pregnancy
Survival Rate