Paternal origin of the de novo deleted chromosome 4 in Wolf-Hirschhorn syndrome

R Tupler; L Bortotto; E M Bühler; M Alkan; N J Malik; N Bösch-Al Jadooa; L Memo; P Maraschio

doi:10.1136/jmg.29.1.53

Paternal origin of the de novo deleted chromosome 4 in Wolf-Hirschhorn syndrome

J Med Genet. 1992 Jan;29(1):53-5. doi: 10.1136/jmg.29.1.53.

Authors

R Tupler¹, L Bortotto, E M Bühler, M Alkan, N J Malik, N Bösch-Al Jadooa, L Memo, P Maraschio

Affiliation

¹ Genetisches Labor, Universitats-Kinderklinik, Basel, Switzerland.

Abstract

The parental origin of the de novo deleted chromosome 4 was studied in five cases of Wolf-Hirschhorn syndrome using polymorphic probes mapping in the 4p16.3 region. In all the patients the deleted chromosome was found to be of paternal origin and these results, together with similar ones obtained by another group, make the preferential paternal origin of the de novo chromosome 4 deletion highly significant.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Abnormalities, Multiple / genetics*
Child
Child, Preschool
Chromosome Deletion*
Chromosomes, Human, Pair 4*
Fathers
Female
Humans
Hypertelorism / genetics
Male
Microcephaly / genetics