Deletion 1q42.3----qter in a girl with psychomotoric retardation and multiple dysmorphisms.
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.
Kausch
K
K
Department of Human Genetics, University of Würzburg, West Germany.
Köhler
J
J
Schmid
M
M
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002478:Cells, Cultured; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002878:Chromosomes, Human, Pair 1; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008214:Lymphocytes / Q000166:cytology; D008297:Male; D011596:Psychomotor Disorders / Q000235:genetics*; D013577:Syndrome