J Korean Soc Neonatol.  2005 Nov;12(2):217-221.

Chromosome 7q Deletion Syndrome [46, XX, del(7)(q34)] with Hydronephrosis

• Sung NJ
• Kim MJ
• Kim YH
• Jung JA
• Yang S
• Hwang IT
• Lee HR

Abstract

Chromosome 7q deletion, relatively rare syndrome, was first described by de Grouchy in 1969. The most frequent clinical manifestations of a "7q deletion syndrome" include; low birth weight, postnatal growth retardation, mental retardation, developmental delay, microcephaly, congenital heart disease, hypotonia, bulbous nasal tip and abnormal ears. We report a case of 7q deletion syndrome with microcephaly, upslanting palpabral fissure, micrognathia, bulbous nasal tip, developmental delay and hydronephrosis.

Keyword

Chromosome 7q deletion syndrome; Hydronephrosis

MeSH Terms

Ear
Heart Defects, Congenital
Humans
Hydronephrosis*
Infant, Low Birth Weight
Infant, Newborn
Intellectual Disability
Microcephaly
Muscle Hypotonia