J Korean Soc Neonatol.  2000 May;7(1):68-71.

A Case of Deletion 9p Syndrome

• Kim JH
• Kim CS
• Nho US
• Kim EJ
• Yoo CW
• Kim CK

Abstract

Since Alfi et al. first described the 9p deletion syndrome in 1973, approximately 40 cases with deletion of the chromosome 9p have been reported. These patients have multiple anomalies in craniofacies, limbs, and cardiovascular system, and mental retardation. In most cases, the breakpoint is located at the band 9p22 and the deletion is de novo. We report a neonate with 9p deletion syndrome diagnosed by clinical features and chromosomal analysis. He had multiple anomalies such as up slanting of palpebral fissures, epicanthal folds, arched eyebrows, anteverted nares, cleft palate, micrognathia, pectus excavatum, widely spaced nipples, cryptorchidism, atrial septal defect, tricuspid regurgitation (grade : III) and persistent muscle hypotonia.

Keyword

9p deletion syndrome; Multiple anomalies; Neonate

MeSH Terms

Cardiovascular System
Cleft Palate
Cryptorchidism
Extremities
Eyebrows
Funnel Chest
Heart Septal Defects, Atrial
Humans
Infant, Newborn
Intellectual Disability
Male
Muscle Hypotonia
Nipples
Tricuspid Valve Insufficiency