A specific syndrome due to deletion of the distal long arm of chromosome 1.
We have studied 2 patients with de novo deletion 1 (q42.3----qter): a 5 1/2-year-old boy and an unrelated 1 9/12-year-old girl. The analysis of the phenotype which is now possible in a total of 23 cases shows that the deletion of the terminal 1q leads to a definable multiple congenital anomalies/mental retardation (MCA/MR) syndrome. The phenotype is so characteristic that, as a rule, the clinical data should suggest the correct cytogenetic diagnosis.
Meinecke
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Humangenetische Untersuchungsstelle, Hamburg, Federal Republic of Germany.
Vögtel
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D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D002872:Chromosome Deletion; D002878:Chromosomes, Human, Pair 1 / Q000648:ultrastructure; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D013577:Syndrome