Six cases of 7p deletion: Clinical, cytogenetic, and molecular studies
β Scribed by Chotai, Kokila A. ;Brueton, Louise A. ;van Herwerden, Lyn ;Garrett, Christine ;Hinkel, Georg K. ;Schinzel, Albert ;Mueller, Robert F. ;Speleman, Frank ;Winter, Robin M.
- Publisher
- John Wiley and Sons
- Year
- 1994
- Tongue
- English
- Weight
- 524 KB
- Volume
- 51
- Category
- Article
- ISSN
- 0148-7299
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
A 46,XX,del(10)p13 karyotype (Paris Conference, 1971) was identified in a 5-year-old Negro girl with mental and growth retardation, brachy- and trigonocephaly, downward slanting palpebral fissures, hypotelorism, epicanthal folds, ptosis, strabismus, dysplastic nose, high-arched palate, microdontia,
## Abstract ## BACKGROUND Fluorescent subtelomeric probes for the 41 different subtelomeric regions (the p arms of the acrocentric chromosomes were excluded) have been developed over the last 10 years. These probes can detect deletions, duplications, and translocations in the geneβrich subtelomeri
Two unpublished cases with partial tandem duplication of 12p and one previously published case were studied by fluorescence in situ hybridization using 11 cosmid DNA probes from 12p. We propose that the smallest duplications of 12(p13.2pter) and 12(p13.lp13.33) produce the "trisomy 12p syndrome" whi
An interstitial deletion of segment 3p14 (breakpoints 3p21.1 and 3p13) was found in a 5-year-old short, microcephalic, and mentally retarded girl with a pattern of anomalies comprising a wide forehead, short upslanting palpebral fissures, small nose and ears, hypoplasia of larynx, trachea, and bronc