[Clinical picture of partial monosomy of chromosome 11 q].
A ten months old male infant was found to have a de-novo-deletion of the long arm of chromosome 11 (q23----qter). With regard to previous reports the combination of the following signs seems to be pathognomonic for partial monosomy of the long arm of chromosome 11: trigonocephaly, abnormal palpebral fissure, epicanthus, broad and depressed nasal bridge, carp shaped mouth, low-set malformed ears and statomotoric retardation. Cerebral atrophy, BNS-seizures, hypsarrhythmia and persistent leukocytopenia have not yet been described. Three distinct types of severity and probably correlated prognosis seem to exist.
D000015:Abnormalities, Multiple / Q000235:genetics; D002869:Chromosome Aberrations / Q000235:genetics*; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002880:Chromosomes, Human, Pair 11; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D008297:Male
Das klinische Erscheinungsbild der partiellen Monosomie von Chromosom 11 q.