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A patient with an interstitial deletion of the short arm of chromosome 6

✍ 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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Interstitial deletion of the short arm o
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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

Distal deletion of the short arm of chro
✍ Zurcher, Vickie L. ;Golden, Wendy L. ;Zinn, Arthur B. πŸ“‚ Article πŸ“… 1990 πŸ› John Wiley and Sons 🌐 English βš– 443 KB πŸ‘ 3 views

## 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 non‐specific phenotype, with the poss