Interstitial deletion del(2)(q24q31) with a phenotype similar to del(2)(q31q33)

C Wamsler; B Müller; G Freyberger; M Schmid

doi:10.1002/ajmg.1320390217

Interstitial deletion del(2)(q24q31) with a phenotype similar to del(2)(q31q33)

Am J Med Genet. 1991 May 1;39(2):204-6. doi: 10.1002/ajmg.1320390217.

Authors

C Wamsler¹, B Müller, G Freyberger, M Schmid

Affiliation

¹ Department of Human Genetics, University of Würzburg, Germany.

PMID: 2063926
DOI: 10.1002/ajmg.1320390217

Abstract

A 3 3/12-year-old girl with multiple anomalies is reported. An interstitial deletion del(2)(q24q31) was demonstrated. There is considerable overlap of symptoms in cases with del(2)(q31q33), which are reviewed.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / genetics
Child, Preschool
Chromosome Banding
Chromosome Deletion*
Chromosomes, Human, Pair 2*
Facial Bones / abnormalities
Female
Humans
Phenotype
Skull / abnormalities
Syndrome