Interstitial deletion of the long arm of chromosome 15.
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Abnormalities, Multiple↗
Biomedical subjects
A de Muelenaere
Publications and source records attributed to A de Muelenaere.
The 4p-syndrome in a 24-year-old female.
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Adult↗
Partial distal 1q trisomy. A distinct clinical dysmorphic syndrome in adulthood.
Partial distal 1q trisomy (1q32 leads to 1qter) is reported in a 19 year-old deeply mentally handicapped girl. The dysmorphic stigmata in this patient are strikingly similar to those found in the two previously reported adult individuals, which were trisomic for the same segment of 1q.
Adult↗
Partial distal 12q trisomy.
Two profoundly mentally retarded sisters with partial trisomy for the distal part of the long arm of chromosome 12 (12q24 leads to 12qter) are described. Their anomaly arose as a segregation product of a balanced t(12q-; 17q+) translocation in the mother. Both patients display a similar craniofacial dysmorphism, but lack gross internal or external malformations.
Adult↗