Deletion 1q42.3----qter in a girl with psychomotoric retardation and multiple dysmorphisms

K Kausch; J Köhler; M Schmid

Deletion 1q42.3----qter in a girl with psychomotoric retardation and multiple dysmorphisms

Ann Genet. 1988;31(3):193-4.

Authors

K Kausch¹, J Köhler, M Schmid

Affiliation

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

PMID: 3265611

Abstract

A de novo deletion 1q42.3----qter in a 10-month-old girl with psychomotoric retardation and multiple dysmorphic signs is reported. The patient's symptoms are in accordance with a recently described distal 1q deletion syndrome.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / genetics*
Adult
Cells, Cultured
Chromosome Banding
Chromosome Deletion*
Chromosomes, Human, Pair 1*
Female
Humans
Infant, Newborn
Karyotyping
Lymphocytes / cytology
Male
Psychomotor Disorders / genetics*
Syndrome