Korean J Pediatr.  2004 Oct;47(10):1128-1131.

A Case of Del 13(q24) Syndrome with Multiple Anomalies

• Lee SY
• Jung HJ
• Nam IH
• Jang MY

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 is very low. Among them, patients with partial deletion of the long arm of chromosome 13 are very rare. The natural history of deletion of the long arm is dependent on the deleted segment. It has been known that patients with proximal deletions not extending into q32 usually show mild to moderate mental retardation, variable minor anomalies, and growth retardation. Patients with more distal deletions, including at least part of q32, usually have severe mental retardation, growth deficiency, and major malformations including microcephaly and CNS defects, distal limb anomalies, eye defects, and gastrointestinal malformation. We report a case of a 13(q24) deletion male infant who showed intrauterine growth retardation, imperforate anus, CNS anomalies, hydronephrosis, clubfoot, clinodactyly and developmental delay, although his deletion site was proximal to q32.

Keyword

13q deletion; 13(q32); Chromosome disorder

MeSH Terms

Anus, Imperforate
Arm
Chromosome Aberrations
Chromosome Disorders
Chromosomes, Human, Pair 13
Clubfoot
Extremities
Fetal Growth Retardation
Humans
Hydronephrosis
Infant
Infant, Newborn
Intellectual Disability
Male
Microcephaly
Natural History
Pregnancy
Survival Rate