A patient with an interstitial deletion of the short arm of chromosome 6
β Scribed by E. van Swaay; G. C. Beverstock; J. J. P. van de Kamp
- Book ID
- 115089764
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 485 KB
- Volume
- 33
- Category
- Article
- ISSN
- 0009-9163
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A de novo interstitial deletion of the short arm of chromosome 3 was prenatally diagnosed in a male fetus, karyotype 46,XY,del(3)(pter----p14.2::p11----qter). The fetus had craniofacial dysmorphisms, a single transverse palmar crease, ulnar deviation in the wrists, cardiovascular anomalies, a slight
## Abstract We report on a patient with deficiency of distal 6p and compare the clinical and cytogenetic findings in this child with those of three previously reported patients who had similar deletions. Distal del(6p) appears to be associated with a relatively nonβspecific phenotype, with the poss