Interstitial deletion of chromosome 10, del(10) (q11.2q22.1) in a boy with developmental delay and multiple congenital anomalies

J. L. Zenger-Hain, J. Roberson, D. L. Van Dyke, L. Weiss

Research output: Contribution to journalArticle

6 Scopus citations

Abstract

We describe a 4-year-old boy with an interstitial deletion of the long arm of chromosome 10:del(10) (q11.2q22.1). Frontal bossing, hypertelorism, bright blue iris color, up-slanting palpebral fissures, a flat nasal bridge, a broad nose, apparently low-set ears, micrognathia, deep philtrum, and hypotonia were noted neonatally. A murmur was noted at age 5 1/2 months and surgical repair of subaortic stenosis was required at 4 years. At 4 years micrognathia was no longer evident, but the palate was high-arched. The pattern of abnormalities included postnatal-onset slow growth, short stature, mental retardation, and cardiac anomalies.

Original languageEnglish (US)
Pages (from-to)438-440
Number of pages3
JournalAmerican journal of medical genetics
Volume46
Issue number4
DOIs
StatePublished - Jan 1 1993

Keywords

  • chromosomal deletion
  • chromosome 10q
  • congenital malformations

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Fingerprint Dive into the research topics of 'Interstitial deletion of chromosome 10, del(10) (q11.2q22.1) in a boy with developmental delay and multiple congenital anomalies'. Together they form a unique fingerprint.

  • Cite this