Abstract
We report a girl with a de novo duplication of the distal part of the long arm of chromosome 3 and review the literature. Our patient had the facial characteristics and many other anomalies of the partial 3q duplication syndrome. As a hitherto undescribed symptom in partial 3q trisomy syndrome, she had microphthalmia. The karyotype of this girl was interpreted as an inverse duplication of the terminal portion of chromosome 3: 46,XX,inv dup (3)(pter-q28::q28-q25::q28-qter). Quantitative hybridisation studies with 3p and 3q probes gave a consistent 3:2 ratio of the relative intensities of the q bands in relation to the p bands between patient and control. This confirmed the presence of a 3q duplication and delineated the location of D3S5 to 3q25-3q28.
Original language | English |
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Pages (from-to) | 151-154 |
Number of pages | 4 |
Journal | HUMAN GENETICS |
Volume | 87 |
Issue number | 2 |
Publication status | Published - Jun-1991 |
Keywords
- PARTIAL TRISOMY 3Q
- DUP(3Q) SYNDROME
- TRANSLOCATION
- DELETION